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153 Cards in this Set

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3 week-ood admited for vomiting of 5 days duration. Has rapid heart rate, evidence of dehydration, and ambiguous genitalia. Na=120, K=7.5, HCO3=12, BUN=20. Dx? Txt?
Dx: Congenital Adrenal Hyperplasia (CAH)
Txt: Hydrocortisone or cortisone

21-Hydroxylase deficiency in CAH results in decreased pdtion of cortisol and other adrenal cortical hormonesand secondary hypertrophy of teh adrenal gland. Accumlation of androgen-like precursors leads to masculinization of the female fetus and ambiguous genitalia. There is also lack of mineralocorticoids leads to low Na and high K.
12 yo girl with painful swellings on the front of the legs of 3 days duration. Tender erythematous nodules, 1-2 com in diameter, on the extensor surfaces of the lower legs. Dx?
This pt has erythema nodosum commonly caused by gp A beta-hemolytic streptococcal ifection is a common cause. Erythema nodosum is a reactive phenomenon characterized by tender, erythematous nodules 1-2cm in diameter. The lesions are on the extensor surfaces of the extremities and are more common on the legs.
8yo child hospitalized for paroxysms of severe colicky pain which does not radiate to the back or groin. Generalized abdominal tenderness. Exploratory laparatomy reveals an edematous intestine without specific lesions.
The pt has anaphylactoid purpura (HSP-Henoch-Schonlein Purpura), which is fairly common in pediatrics. Anaphylactoid purpura is presents as colicky abdominal pain, nephritis, arthritis, and a characterisitc purpuric rash limited to the area below the waist.

Henoch-Schönlein purpura (HSP) is an immunoglobulin (Ig) A-mediated small-vessel vasculitis that predominantly affects children but also is seen in adults. HSP is a subset of necrotizing vasculitis characterized by fibrinoid destruction of blood vessels and leukocytoclasis. Clinical manifestations primarily include palpable purpura, arthralgia or arthritis, abdominal pain, gastrointestinal (GI) bleeding, and nephritis. The most serious long-term complication from HSP is progressive renal failure, which occurs in 1-2% of patients.
The etiology of HSP is unknown but involves the vascular deposition of IgA immune complexes. More specifically, the immune complexes are composed of IgA1 and IgA2 and are produced by peripheral B lymphocytes. These complexes likely are formed in response to an inciting factor. The circulating complexes become insoluble, are deposited in the walls of small vessels (arteries, capillaries, venules), and activate complement, most likely by the alternative pathway (based on the presence of C3 and properdin and the absence of the first component of complement in most biopsies).

Polymorphonuclear leukocytes are recruited by chemotactic factors and cause inflammation and necrosis of vessel walls with concomitant thrombosis. This leads to extravasation of erythrocytes from hemorrhage in the affected organs and is manifested histologically as leukocytoclastic vasculitis.

Histology of involved skin reveals polymorphonuclear cells or cell fragments around small dermal blood vessels. Immune complexes containing IgA and C3 have been found in skin, kidneys, intestinal mucosa, and joints, which are the major organ sites involved in HSP.

Clinical manifestations of HSP reflect small-vessel injury. Abdominal pain, present in as many as 65% of patients, is secondary to vasculitis-induced submucosal and subserosal hemorrhage and edema, with thrombosis of the microvasculature in the gut. Hematuria and proteinuria occur in HSP-associated nephritis. Renal manifestations range from minimal change to severe crescentic glomerulonephritis.

Etiology is secondary to the mesangial deposition of IgA predominantly, but IgG, IgM, C3, and properdin deposition also may occur. These deposits also can occur in the subendothelial and subepithelial glomerular spaces. Many believe that both HSP nephritis and IgA nephropathy (Berger disease), which are the most common causes of glomerulonephritis in the world, are different clinical presentations of the same disease process. Dermatologic manifestations occur secondary to immune complex deposition (IgA, C3) in vessels of the papillary dermis, resulting in vessel injury, extravasation of RBCs, and clinically observable palpable purpura. This tends to occur in dependent body regions, such as the lower legs, buttocks, back, and abdomen.
What are the signs and symptoms of Henoch-Schonlein Purpura (aka Anaphylactoid Purpura)?
he symptoms of HSP are usually preceded by a viral upper respiratory tract infection. The classic tetrad of HSP --- which can occur in any order at any time --- are, in order to decreasing frequency:

* (100%) rash --- typically purpuric with normal clotting times and usually in lower legs and arms. As purpura are small haemorrhages, they are non-blanching (i.e. they do not disappear on pressure), which can lead to confusion with the petechiae of meningococcal sepsis.
* (82%) arthralgia/arthritis --- usually affecting knees and ankles, are transient and cause no permanent damage
* (63%) abdominal pain
* (40%) renal disease.

GI bleed may occur in 33% of patients, nephritis and hematuria in 40%, and proteinuria in 25%. Other organs such as the CNS and lung can also be affected. 33% will develop recurrence of the syndrome. 1% will progress to chronic renal failure. Both recurrence and renal complications are more frequent in older children and adults.

GI disease is present in most HSP patients. Symptoms include colicky abdominal pain associated with vomiting, lower GI bleeding (melena or hematochezia), intussusception (usually in the ileum), pancreatitis, cholecystitis, and a protein-losing enteropathy. GI endoscopy may show purpuric lesions.

Renal disease is common in HSP patients, with 30-70% developing hematuria and/or proteinuria as shown by red cell and casts in the urinalysis. Other renal findings may include the nephrotic syndrome, hypertension, and acute renal failure. HSP nephritis accounts for about 15% of all glomerulopathies in childhood. The findings on renal biopsy correlates with the severity of symptoms: asymptomatic hematuria may only have focal mesangial proliferation while those with proteinuria may have marked cellular proliferation or even crescent formation. The number of crescentic glomeruli is an important prognostic factor in determining whether the patient will develop chronic renal disease or end-stage renal disease.
Pt. has flat-purplish-red hemangioma on the left-side of the face extending into the forehead. He has been having recurrent right focal seizures that progress to generalization. Dx? What so you expect to see on CT?
Dx: Sturge-Weber (aka Sturge-Weber-Dmitri Disease aka Encephalotrigeminal Angiomatosis). Unilateral facial hemangioma, particularlyin the distribution of the Trigeminal Nerve and focal seizures strongly suggest Struge-Weber Dz. Also expect to see Intracranial calcifications on the ipsilateral side as teh port-stain on the face.

Sturge-Weber Dz is characterized by a port-wine capillary nevus on the face (classically in the distribution of the first division of the trigeminal nerve), focal seizures on the contralateral side, and intracranial calsifications on the ipsilateral side. The intracranial pathology is caused by hemangiomatous changes of the meninges. The seizures often are very difficult to control. Other common features include mental deficiency and contralateral hemiparesis.
What is the disease associated with each finding on urinanalysis?
1)Dermatan and heparan sulfate
2)Galactose
3)Mannose
4) Urine has the odor of maple
syrup
5)Urine has the odor of sweaty feet
1) Dermatan and heparin sulfate-
1)Hurler Syndrome
2)Galactose
2)Galactosemia
3)Mannose
3)Mannosidosis
4) Odor of maple syrup
4) Branched-chain aminoacidemia
5) Odor of sweaty feet
5) Isovaleryl CoA dehydrogenase deficiency
What is Hurler Syndrome?
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease and gargoylism[1], is a genetic disorder that results in the deficiency of alpha-L iduronidase, which is an enzyme that breaks down mucopolysaccharides. Without this enzyme, the buildup of heparan sulfate and dermatan sulfate occurs in the body (the heart, liver, brain etc.). Symptoms appear during childhood and early death can occur due to organ damage.

Hurler Syndrome is classified as a Lysosomal Storage Disease
This rare, autosomal recessive disorder is characterized by growth retardation that generally starts after the first year of life. Classically, facial features become coarse and appear gargoyle-like. Hepatosplenomegaly results from the accumulation of mucopolysaccharide and often is striking). Bone and joint involvement with kyphosis and joint contractures is frequent. Corneal clouding results from the depositoin of mucopolysaccharide in that organ. The accumulation of mucopolysaccharide in the brain leads to mental retardation.
Hurler Syndrome
12 yo child is short and mentally retarded. The liver is enlarged to 5 cm below the right rib cage, and the spleen is enlarged to 6cm below the left rib cage. Lumbodorsal kyphosis is prominent. The child has a peculiar facies with thick lip and a large tonge ("gargoyle facies"). Unable to visualize the retina because of clouding of the corneas. Dx?
Hurler's Syndrome.
The condition is marked by progressive deterioration, hepatosplenomegaly, dwarfism and gargoyle-like faces. There is a progressive mental retardation, with death occurring by the age of 10 years.

Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. Language may be limited due to hearing loss and an enlarged tongue. In time, the clear layers of the cornea become clouded and retinas may begin to degenerate. Carpal tunnel syndrome (or similar compression of nerves elsewhere in the body) and restricted joint movement are common.

Affected children may be quite large at birth and appear normal but may have inguinal (in the groin) or umbilical (where the umbilical cord passes through the abdomen) hernias. Growth in height may be initially faster than normal, then begins to slow before the end of the first year and often ends around age 3. Many children develop a short body trunk and a maximum stature of less than 4 feet. Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year. By age 2, the ribs have widened and are oar-shaped. The liver, spleen and heart are often enlarged. Children may experience noisy breathing and recurring upper respiratory tract and ear infections. Feeding may be difficult for some children, and many experience periodic bowel problems. Children with Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, or cardiac complications.
also called Gargoylism, or Mucopolysaccharidosis I, one of several rare genetic disorders involving a defect in the metabolism of mucopolysaccharides, the class of polysaccharides that bind water to unite cells and to lubricate joints. Dx?
Hurler's Syndrome
Small (pinhead to 5-10 cm in diameter), pearly papules with translucent tops and waxy, whitish material inside, distributed on the face and anterior trunk. Some lesions are umbilicated Dx?
Molluscum contagiosum.
Molluscum contagiosum is a poxvirus that causes a chronic localized infection, consisting of flesh-colored, dome shaped papules on the skin of an infected individual.
Soft, flesh-colored papular or pedunculated lesions around the genitalia and rectum. Dx?
Condyloma acuminatum
The typical lesion of this dz is an ovoid, pink papule with fine scales. Lesions typically follow tension lines on the skin, giving the appearance of the branches of a pine tree or a Christmas tree on the patient's back. A single lesion appearing a week or two before other lesions is a common occurence and is referred to as a heerald patch. The lesions are characteristically very pruritic. Dx?
Pityriasis rosea.

A significant literature supports the hypothesis that PR is a manifestation of human herpesvirus 7 (HHV-7) reactivation.
3 dqy old term infant with unconjugated hyperbilirubinemia but with no evidence of hemolysis (normal retic count, normal Hb). Most likely Dx?
The mos likely cause would be physiologic jaundice, a generally benign condition of neonates associated with hepatic immunity and a peak bilirubin level of lass than 13 on day of life 3-4 for a term infant and 15 or less on day 5-7 for a preterm infant.
5 wk old infant has been jaundiced for 2 weeks. Has been asymptomatic and exam is normal. Lab values: Hb=14.3, reticulocytes=1.2%, bilirubin unconjugated 4.5, conjugated 5.5, ALT=25, ALT=75. Abdominal US reveals normal-sized liver, gallbladder is not visible for some reason. Dx?
Biliary atresia b/c infant has persistent mixed hyperbilirubinemia, suggesting hepatic disorder.. Normal LFT's indicate an obstructive rather than inflammatory condition. Finally, the inability to visualize a gallbladder on US suggests biliary atresia.
What is Cringler-Najaar Syndrome?
The phenotype of Crigler-Najjar syndrome type I can be caused by a variety of alterations in the coding sequences of the bilirubin-uridine diphosphate glucuronosyltransferase (UGT1A1) gene which is responsible for the conjugation of bilirubin. These mutations lead to the production of an abnormal protein, resulting in complete loss or very low levels of hepatic bilirubin-UGT (UGT1A1) activity.
What is the most common permanent complicaton of congential CMV infections?
CNS complications.

Up to 20% of infants infected with CMV eventually demonstrate CNS abnormalities. Permanent nervous complications include: microcephaly, sensorineural hearing loss, and impaired intellect and development.
Most common causes of sensorineaural hearing loss in infancy are?
#1 Heareditary causes
#2 Congenital infection, particularly involving CMV

other causes include: hyperbilirubinemia, asphyxia, ototoxic med's such as aminoglycosides, late onset gp B streptococcal meningitis.
What is omphalocele?
An omphalocele is a type of abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac because of a defect in the development of the muscles of the abdominal wall.
What is lanugo?
Lanugo are hairs that grow on the body to attempt to insulate it because of lack of fat. It is a type of pelage. Lanugo is very fine, and grows on the body in places which do not usually grow hair, like the stomach, back and chest.

Lanugo occurs on fetuses as a normal part of gestation. The fetus drinks amniotic fluid and urinates it back into its environment. As the lanugo is lost, it is normal for the developing fetus to consume the hair with the fluid, which then contributes to the newborn baby's first feces (meconium). Lanugo hair is usually shed and replaced by vellus hair at 36–40 weeks gestation. The presence of lanugo in newborns is a sign of premature birth.
The breakdown of 1 g of hemoglobin yields about ____ of bilirubin.
The breakdown of 1 g of hemoglobin yields about _35mg_ of bilirubin.
What is Erythroblastosis Fetalis?
Alloimmune hemolytic disease of the newborn (HDN) is a condition in which the red cells of the fetus or newborn are destroyed by maternally-derived alloantibodies. These antibodies arise in the mother as the direct result of a blood group incompatibility between the mother and fetus, as when an Rh(D) negative mother carries an Rh(D) positive fetus.

In this example, the mother becomes initially sensitized to Rh(D) positive red cells either through a prior transfusion of Rh(D) positive red cells or through the process of fetal-maternal hemorrhage, in which a variable volume of fetal red cells passes through the placental barrier and gains entrance into the maternal circulation [1,2]. The presence of these "foreign" fetal red cells initiates the formation of anti-Rh(D) IgG antibodies in the mother (isoimmunization), which are then capable of crossing the placenta and causing hemolysis during the fetal and/or neonatal period. This disorder is called erythroblastosis fetalis when it occurs in the fetus and HDN when it occurs in the newborn.
Kernicterus is mostly related to the serum level of:
Kernicterus is mostly related to the serum level of:
Unconjugated bilirubin.

Unconjugated bilirubin crosses the BBB whereas conjugated bilirubin cannot. Thus, unconjugated bilirubin deposits in the CNS. The basal ganglia are most susceptible.

Bilirubin staining can be noted on autopsy of fresh specimens in the regions of the basal ganglia, hippocampus, substantia nigra, and brainstem nuclei. Such staining can occur in the absence of severe hyperbilirubinemia; in this situation, factors influencing permeability of the blood-brain barrier (eg, acidosis, infection) and the amount of unbound (versus albumin-bound) bilirubin may play a role.
The most common serious late clinical manifestation of ABO isoimmune hemolytic dz of the newborn is?
Congestive Heart Failure. Symoptoms of CHF in the newboar are tachypnea and failure to feed.
What is the composition of pulmonary surfactant?
65% phosphatidylcholine
10% protiens
10% neutral lipids
What is Eryhema Toxicum?
Erythema Toxicum is a benign condition seen in 3-70% of normal, term infants. The skin lesions usually appear within the first 3 days of life and are not associated with any systemic signs or symptoms. Infants are afebrile, and the peripheral WBC's are normal. The rash presents with one or more of three types of skin lesions including erythmatous macules, wheals, and vesiculopustules on an erythematous base.
The lecithin-sphinomyelin ratio of amniotic fluid is a useful indicator of maturity of the fetal ___?
The lecithin-sphinomyelin ratio of amniotic fluid is a useful indicator of maturity of the fetal lungs. It is a useful indicator of lung maturity and risk of development of Respiratory Distress Syndrome aka Hyaline Membrane Dz.
What are the characterisitc roentgenographic findings on infantile respiratory distress syndrome?
Infantile respiratory distress syndrome will present as diffuse reticulogranular changes and air bronchograms. These changes represent diffuse alveolar atelactasis.
Explain the pathophysiology of Respiratory Distress Syndrome (Hyaline Membrane Dz)?
Lanugo are hairs that grow on the body to attempt to insulate it because of lack of fat. It is a type of pelage. Lanugo is very fine, and grows on the body in places which do not usually grow hair, like the stomach, back and chest.

Lanugo occurs on fetuses as a normal part of gestation. The fetus drinks amniotic fluid and urinates it back into its environment. As the lanugo is lost, it is normal for the developing fetus to consume the hair with the fluid, which then contributes to the newborn baby's first feces (meconium). Lanugo hair is usually shed and replaced by vellus hair at 36–40 weeks gestation. The presence of lanugo in newborns is a sign of premature birth.
The major danger assoc. w/ an arterial PO2 greater than 100 mmHg in a premature infant receiving oxygen for respiratory distress syndrome is?
Retinopathy of Prematurity (ROP)the major danger of hyperoxemia and the reason that arterial oxygenation should be closely monitored in the premature infant.
The pathophysiology of infantile respiratory distress syndrome in the premature infant appears to involve?
Decreased pdtion of pulmonary surfactant leading to atelactasis.
What is a deficiency in factor VIII?
Hemophilia A ("A" and "8" sound similar)
What is a deficiency in factor IX?
Hemophilia B.
Cataract in a newborn. Ddx?
Inborn errors of metabolism that regularly produce cataracts in the newborn are disorders involving carbohydrate metabolism (galactosemia) and lysosomal storage disorders (GM1-gangliosidosis). Cataracts have also been reported in some cases of peroxisomal defects (adrenoleukodystrophy).
Newborn with omphalocele and a large tonge. Dx?
Beckwith-Wiedemann Syndrome encompasses abdomnal wall defects (esp. omphalocele which is an outpounching of the umbilicus containing the internal organs), macroglossia, and macrosomia. The diagnosis of Beckwith-Wiedemann Syndrome is critical in the immediate newborn period as they also have severe hyperinsulinemia, which can result in severe hypoglycemia and thus can lead to brain injury. Thus, one of the parents may be large and overweight because they are producing excessive amounts of insulin. Beckwith-Wiedemann Syndrome (BWS) pt's have a very high incidence of abdominal tumors during chilhood.

Beckwith-Wiedemann syndrome in the newborn is a consistent group of findings of unknown cause and is characterized by large tongue (macroglossia), large organs (visceromegaly), large body size (macrosomia), hernia of the navel (omphalocele) and small head (microcephaly).
3 week-old is noted to hace microcephaly, cerebral calcifications, and blindness. Dx?
The combination of microcephaly, cerebral calcifications, and blindness is typical of damage caused to neural tissues by intrauterine infection with either CMV or toxoplasmosis.
What is Beckwith-Wiedemann Syndrome ?
Beckwith-Wiedemann Syndrome (BWS) is a congenital overgrowth syndrome, which can affect all systems of the body.

What are the main characteristics of BWS?

There are many characteristics that are associated with BWS, but most children who are affected have only a few of them. The most commonly found are described below:
PREMATURITY

BWS children are usually born prematurely but are larger and heavier than one would expect, given the shorter length of gestation.
MACROSOMIA

Height and weight over the 95% centile
MACROGLOSSIA

An enlarged tongue, which may cause breathing, feeding and speaking difficulties, as well as excessive dribbling. It may increase susceptibility to respiratory problems such as bronchitis or excess mucus. It may also result in the protrusion of the lower jaw.
NEVUS FLAMMEUS

Reddened skin on the forehead and eyelids. This usually fades in the first few years.
EAR LOBE CREASES

These are sometimes found in conjunction with indentations behind the upper rim of the ear.
WILMS TUMOURS

Tumours of the kidney. Around 7.5% of BWS children will develop Wilms Tumour. Because of the aggressiveness of these tumours, abdominal ultrasound scans should take place every three months up to the age of 7 or 8 years. A baseline MRI scan may also be performed. The susceptibility to these tumours diminishes and is not usually a problem after the age of 8. Children with one side of the body bigger than the other or enlarged kidneys appear to be more susceptible to Wilms tumour than other BWS children.

Dr. Beckwith recommends that if a brother or sister has one or two of the characteristics of BWS then that child should also have ultrasound scans every three months.
ABDOMINAL WALL DEFECTS

These vary in severity. The worst problem is an omphalocele which allows intestines and possibly other organs to protrude externally into a covering membrane. Less serious is an umbilical hernia and the least worse case is undue weakness and separation of the abdominal muscles, which leads to a pot-bellied appearance. Lax abdominal musculature can cause problems with constipation.
VISCEROMEGALY

Enlarged abdominal organs, usually the kidneys, liver, spleen, adrenals and pancreas.
HYPOGLYCAEMIA

Low blood sugar. This occurs in approximately 40% of BWS children shortly after birth. Brain damage and other complications can result if it is not diagnosed and treated.
HEMIHYPERTROPHY

Overgrowth of one half of the body or of one limb while the rest of the body grows at a normal rate.
HEPATOBLASTOMA

Liver tumours. The risk of these diminishes after the age of 3 years. They can also be detected by abdominal ultrasound but, as not all the liver can be viewed, afp (alpha-feta-protein) levels in the blood are also monitored 3 monthly.
CARDIOMEGALY or STRUCTURAL CARDIAC ABNORMALITIES

Enlarged heart or heart defects. These are relatively uncommon and may resolve without treatment.
Diagnosis of BWS

Currently diagnosis of BWS is made by clinical evaluation and not by genetic testing. Diagnosis is generally based upon the child showing two out of the five major characteristics. These major characteristics are: macroglossia; unexplained hypoglycaemia in the first four months; ear creases or pits; abdominal wall defect (even a mild umbilical hernia); and macrosomia at birth.
What is neurofibromatosis Type 1 (Von Recklinghausen's Dz)
Neurofibromatosis 1(Von Recklinghausen's disease)

Neurofibromatosis 1(NF1) is characterized by spots of increased skin pigmentation(café au lait spots), combined with peripheral nerve tumors and a variety of others dysplastic abnormalities of the skin, nervous system, bones, endocrine organs and blood vessels.

Etiology

The reponsible gene is located on the long arm of chromosome 17

Epidemiology

Its incidence is 1 per 3.000 births and present in about 30 persons per 10.000 population. It is inherited as an autosomal dominant trait, but about 50 percent of cases arise as mutations.

Pathology

The peripheral nerve tumors of two types, schwannomas and neurofibromas. Both types of tumor occasionally become malignant.

Clinical Manifestations

The pigmented spots are irregular in shape with relatively even borders, vary in size, and are of brownish coffe color(café au lait). They are most proeminent over the trunk, in the axilla(axillary freckles), and about the pelve.

The tumors are usually multiple and vary in size from minute lesions to large tumors. The majority are smoothly rounded or lobulated, and can sometimes be seen or felt along the course of peripheral nerves. Often they sink into the subcutaneous fat on gentle pressure. They are also more frequent over the trunk.

Plexiform neurofibromas may grow a lot, leading to grotesque overgrowth of soft tissue and bone in a limb or around the orbit.
Tumors of the spinal nerve roots may compress the spinal cord and at the same time extend though the intervertebral foramens to form a large mass in the posterior mediastinum(Dumbbell tumors).
What is neurofibromatosis Type 2?
Neurofibromatosis 2

Neurofibromatosis 2(NF2) is an autosomal dominant disorder localized to chromosome 22(long arm) and characterized by bilateral acoustic neurofibromas and often other intracranial tumors such as meningiomas and ependymomas.

This disease has a prevalence of 0.1 per 100.000 and family members at risk should be screene regularly with hearing tests and brain stem auditory evoked responses.
What is craniosynostois and scaphocephaly?
Isolated premature closure (craniosynostosis) of the sagital suture results in a long and narrow skull (scaphocephaly).
What is Kawasaki Dz?
Kawasaki disease (KD, also called mucocutaneous lymph node syndrome) is one of the most common vasculitides of childhood [1]. It is typically a self-limited condition, with fever and manifestations of acute inflammation lasting for an average of 12 days without therapy. However, complications such as coronary artery aneurysms, depressed myocardial contractility and heart failure, myocardial infarction, arrhythmias, and peripheral arterial occlusion may develop and lead to significant morbidity and mortality.

Definition: Febrile exanthematic disease usually with cardiac sequelae, that affects children younger than 5 years old.
Etiology: Unknown, probably reaction to toxins (superantigens) produced by staphylococci or streptococci.
Pathology: Systemic vasculitis, in particular coronary arteriitis, which may lead to myocardial infarction and sudden death.
Symptoms and signs: Fever, conjunctivitis, rash, injected pharynx with dry, cracked lips and red strawberry tongue, swelling of the palms and soles with subsequent peeling of the skin. The illness may last 2-12 weeks!
Lab tests: leucocytosis, extreme thrombocytosis, high CRP. Echocardiogram: coronary aneurysms.
Strawberry tongue. Ddx?
Kawasaki dz
Scarlet fever
Toxic Shock Shyndrome
A newborn is noted to have numerous 3mm vesicles on the chest and neck, along with several similar sized hyperpigmented lesions in the same distributions. Dx?
Transient Neonatal Pustular Melanosis (TNPM).

These occur in 2 - 5% of black infants and less than 1% of white infants. They are more common in term infants and are almost always seen at birth or soon after birth. The pustules and vesicles are very superficial and resolve over a period of a few days. The hyperpigmented macules may last for weeks to months.

They can often be confused with herpes simplex, but usually can be distinguished on clinical grounds. Intrauterinely acquired herpes infection can present with vesicles and pustules at birth, but most of these infants have intrauterine growth retardation and microcephaly. Perinatally acquired herpes infection usually does not present with vesicles until day of life 5 - 17.
Cephalohematoma vs Caput Succedaneum?
Caupt succedaneum is diffuse and poorly demarcated edema of the scalp (occurring betwen the skin and epicranial aponeurosis), whereas a cephalohematoma is a subperiosteal collection of blood (occuring between the epicranial aponeurosis and the periosteum).
There is a clear association between advancing maternal age and nondisjunction chromosome disorders. What about paternal?
There is a clear relationship of autosomal dominant disorders and peternal age at conception. It is thought that the accumulation of DNA replication errors is responsible for this phenomenon.
Pt p/w micrognathia (small mandible), glossoptosis (downward displacement or retraction of the tongue), and cleft palate. Dx?
Pierre-Robin Syndrome. The underlying embryological defect in Pierre-Robin Syndrome is poor growth of the mandible causing upward deviation of the tongue, blocking medial fusion of the palatine ridges.
Pt. p/w micrognathia, glossoptosis, U-shaped cleft palate, and airway obstruction. Dx?
Pierre-Robin Syndrome. The underlying embryological defect in Pierre-Robin Syndrome is poor growth of the mandible causing upward deviation of the tongue, blocking medial fusion of the palatine ridges.
What Vitamin deficiency is assoc. with severe seizures?
Pyridoxine (Vit B6) deficiency.
Clinical features — The clinical features of Robin sequence are micrognathia, glossoptosis, and cleft palate (show figure 5). The tongue tends to prolapse backward, leading to airway obstruction that can be life-threatening. Respiratory compromise can lead to hypoxia, cardiopulmonary arrest, pulmonary hypertension, and failure to thrive. Approximately 25 percent of patients have feeding problems. Dz?
Robin sequence, also known as Pierre Robin syndrome, is thought to result from hypoplasia of the mandible that occurs before the ninth week of development. Prior to the eighth week, the tongue is interposed between the developing palatal shelves. In the normal course of development, the tongue is drawn down during the tenth and eleventh weeks, allowing fusion of the palatal shelves. In the Robin sequence, hypoplasia of the mandible results in posterior displacement of the tongue, preventing palatal closure and producing a cleft palate. The cause of this disorder is uncertain. Possible mechanisms include intrauterine crowding (which may limit chin growth), myotonia, or connective tissue disease.

Robin sequence often is an isolated abnormality.
An 8-day old infant develops papules, pustules, and comedones on the forehead, nose, and malar areas of the face. Dx?
Neonatal ace (acne neonatorum) is a skin eruption occurring during the first few weeks of life, probably secondary to transplacental passage of maternal hormones.
What is the maternal serum alpha-fetoproetin test used to diagnose?
The high maternal serum alpha-fetoprotein levels are used to diagnose open neural tube defects and some abdominal wall defects. Low alpha-fetoprotein levels have been linked to nondisjuction chromosome errors. It relies on the diffusion of fetal proteins into the amniotic sac into the maternal circulation...
Infant with duodenal atresia and endocardial cushion defect. Dx?
Trisomy 21 (Down's Syndrome).
A 1700g infant was asphyxiated at birth and, after successful resuscitation, had numerous apneis episodes. On the third day of life, the infant began to vomit, and abdominal distention and bloody stools were noted. Dx?
Necrotizing Enterocolitis occurs especially frequently in low birth weight infants who had repeated episodes of hypoxia or poor perfusion. The usual signs of NEC are abdominal distention, hypothermia, and lethargy.
Explain the pathophysiology of Sturge-Weber Syndrome?
The Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas involving the leptomeninges (leptomeningeal angiomas [LAs]) and skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. The cutaneous angioma is called a port-wine stain (PWS).

In the brain, LAs demonstrated by structural neuroimaging may be unilateral or bilateral; unilateral angiomas are more common.

The neurologic manifestations vary, depending on the location of the LAs, which most commonly are located in the parietal and occipital regions, and the secondary effects of the angioma. These include seizures, which may be intractable; focal deficits, such as hemiparesis and hemianopsia, both of which may be transient, called "strokelike episodes"; headaches; and developmental disorders, including developmental delay, learning disorders, and mental retardation. Developmental disorders are more common when angiomas are bilateral. Seizure control is thought to improve the neurologic outcome, and epilepsy surgery may be beneficial for refractory seizures.

SWS is caused by residual embryonal blood vessels and their secondary effects on surrounding brain tissue. A vascular plexus develops around the cephalic portion of the neural tube, under ectoderm destined to become facial skin. Normally, this vascular plexus forms in the sixth week and regresses around the ninth week of gestation. Failure of this normal regression results in residual vascular tissue, which forms the angiomata of the leptomeninges, face, and ipsilateral eye.

Neurologic dysfunction results from secondary effects on surrounding brain tissue, which include hypoxia, ischemia, venous occlusion, thrombosis, infarction, or vasomotor phenomenon.

From a review of pathologic specimens, Norman and Schoene thought that blood flow abnormalities in the LA caused increased capillary permeability, stasis, and anoxia. Garcia et al and Gomez and Bebin reported that venous occlusion might actually cause the initial neurologic event, either a seizure, transient hemiparesis, or both, thereby beginning the process.

A "vascular steal phenomenon" may develop around the angioma, resulting in cortical ischemia. Therefore, recurrent seizures, status epilepticus, intractable seizures, and recurrent vascular events may aggravate this steal further, with an increase in cortical ischemia, resulting in progressive calcification, gliosis, and atrophy, which in turn increase the chance of seizures and neurologic deterioration.

Disease progression and neurologic deterioration may occur in SWS. Although the actual LA is typically a static anatomic lesion, Reid et al, Maria et al, and Sujansky and Conradi have clearly documented the progressive nature of SWS.

Seizure control, aspirin therapy, and early surgical treatment may prevent neurologic deterioration.

The main ocular manifestations (ie, buphthalmos, glaucoma) occur secondary to increased IOP with mechanical obstruction of the angle of the eye, elevated episcleral venous pressure, or increased secretion of aqueous fluid.

The etiology of SWS is unclear, although Huq et al reported evidence of somatic mosaicism in 4 patients with SWS.
What is the main concern of hereditary tyrosinemia?
Hereditay tyrosinemia is an aminoacidopathy that results in progresive hepatocellular buildup of toxic metabolites (fumarylacetoacetate).
An infant with ambiguous genitalia and salt-losing congenital hyperplasia has a chromosome result of 46XY. What is the enymatic defect?
3-Beta-hydroxysteroid dehydrogenase (3B HSD) deficiency is a rare genetic disorder of steroid biosynthesis resulting in decreased production of all 3 groups of adrenal steroids, which include mineralocorticoids, glucocorticoids, and sex steroids. Decreased mineralocorticoid secretion results in varying degrees of salt wasting in both males and females, and deficient androgen production results in ambiguous genitalia in 46,XY males. Much heterogeneity exists in the clinical presentation of this disorder. Although first described in male infants with ambiguous genitalia and severe salt wasting, 3B HSD deficiency also occurs in 46,XX female infants (who may have mild clitoromegaly) as well as in older patients who present with a milder or so-called late-onset variant.
Failure of a full-term infant to pass meconium stool within the first 48 hours of life. Ddx?
-Intestinal obstruction
-Cystic fibrosis leading to meconium ileus
-Hirschsprung dz
- Hypothyroidism

Failure to pass meconium occurs in 20% of low-brith weight infants less than 1500g.
Newborn infant is edematous, has large anterior fontonelle, and has h/o prolonged hyperbilirubinemia (jaundice). Dx?
Congenital hypothyroidism.
Hereditary mutation in the p53 gene predisposes the pt to onset of cancers at an early age (before 45yo). Dx?
Li-Fraumeni Syndrome.
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant syndrome in which patients are predisposed to cancer. LFS is characterized by the wide variety of cancer types seen in affected individuals, a young age at onset of malignancies, and the potential for multiple primary sites of cancer during the lifetime of affected individuals. The following 3 criteria must be met for a diagnosis of LFS:

1. A proband diagnosed with sarcoma when younger than 45 years

2. A first-degree relative with any cancer diagnosed when younger than 45 years

3. Another first- or second-degree relative of the same genetic lineage with any cancer diagnosed when younger than 45 years or sarcoma diagnosed at any age.

Most hereditary family cancer syndromes involve 1 or 2 specific tumor types, whereas members of LFS kindreds are at risk for a wide range of malignancies, with particularly high occurrences of breast cancer, brain tumors, acute leukemia, soft tissue sarcomas, bone sarcomas, and adrenal cortical carcinoma.
LFS has been linked to germline mutations of the tumor suppressor gene p53 (TP53). Mutations can be inherited or can arise de novo early in embryogenesis or in one of the parent's germ cells.
What are the common respiratory findings in Neonatal Respiratory Distress Syndrome (Hyaline Membrane Dz)?
Tachypnea
Retractions
Cyanosis
Grunting
(but not wheezing).
These symptoms manifest from atelectasis.
What is Tension Pneumothorax?
Tension pneumothorax is the accumulation of air under pressure in the pleural space. This condition develops when injured tissue forms a 1-way valve, allowing air to enter the pleural space and preventing the air from escaping naturally. Arising from numerous causes, this condition rapidly progresses to respiratory insufficiency, cardiovascular collapse, and, ultimately, death if unrecognized and untreated. Favorable patient outcomes require urgent diagnosis and immediate management.

Pathophysiology: Tension pneumothorax occurs anytime a disruption involves the visceral pleura, parietal pleura, or the tracheobronchial tree. The disruption occurs when a 1-way valve forms, allowing air inflow into the pleural space and prohibiting air outflow. The volume of this nonabsorbable intrapleural air increases with each inspiration because of the 1-way valve effect. As a result, pressure rises within the affected hemithorax. As the pressure increases, the ipsilateral lung collapses and causes hypoxia. Further pressure build-up causes the mediastinum to shift toward the contralateral side and impinge on both the contralateral lung and the vasculature entering the right atrium of the heart. This condition leads to worsening hypoxia and compromised venous return. The inferior vena cava is thought to be the first to kink and restrict blood flow back to the heart. It is most evident in trauma patients who may be hypovolemic with reduced venous blood return to the heart.

Researchers still are debating the exact mechanism of cardiovascular collapse, but, generally, they believe the condition develops from a combination of mechanical and hypoxic effects. The mechanical effects manifest as kinking or compression of the superior and inferior vena cava because the mediastinum deviates and the intrathoracic pressure increases. Hypoxia leads to increased pulmonary vascular resistance via vasoconstriction. In either event, decreasing cardiac output and worsening metabolic acidosis secondary to decreased oxygen delivery to the periphery occur, thus inducing anaerobic metabolism. If the underlying problem remains untreated, the hypoxemia, metabolic acidosis, and decreased cardiac output lead to cardiac arrest and death.
What are the findings in Tension Pneumothorax?
Tachypnea, cyanoisis, and bradycardia.
Hypotension develops from sequestration of blood in the collapsed lung vasculature combined with pressure on the pliable venous great vessels (SVC and IVC).
Meconium ileus, think:
Cystic fibrosis
What is Congenital Syphilis?
ongenital syphilis is syphilis present in utero and at birth, and occurs when a child is born to a mother with secondary or tertiary syphilis. Untreated syphilis results in a high risk of a bad outcome of pregnancy. Syphilis can cause miscarriages, premature births, stillbirths, or death of newborn babies. Some infants with congenital syphilis have symptoms at birth, but most develop symptoms later. Untreated babies can have deformities, delays in development, or seizures along with many other problems such as rash, fever, swollen liver and spleen, anemia, and jaundice. Sores on infected babies are infectious. Rarely, the symptoms of syphilis go unseen in infants so that they develop the symptoms of late-stage syphilis, including damage to their bones, teeth, eyes, ears, and brain.

Early congenital syphilis

This is a subset of cases of congenital syphilis. Newborns may be asymptomatic and are only identified on routine prenatal screening. If not identified and treated, these newborns develop poor feeding and rhinorrhea. By definition, early congenital syphilis occurs in children between 0 and 2 years old[2]. After, they can develop late congenital syphilis.

Symptomatic newborns, if not stillborn, are born premature, with enlargement of the liver, spleen, skeletal abnormalities, pneumonia and a bullous skin disease known as pemphigus syphiliticus.
What is Hypoplastic Left Heart Syndrome
Hypoplastic left heart syndrome (HLHS) describes a spectrum of cardiac abnormalities characterized by marked hypoplasia of the left ventricle and ascending aorta. The aortic and mitral valves are atretic, hypoplastic, or stenotic. The ventricular septum is usually intact. A large patent ductus arteriosus supplies blood to the systemic circulation. Systemic desaturation may be present because of complete mixing of pulmonary and systemic venous blood in the right atrium via an atrial septal defect or patent foramen ovale. Coarctation of the aorta commonly coexists. Hypoplastic left heart syndrome is a uniformly lethal cardiac abnormality if not surgically corrected.

Will present as tachypnea, poor feeding, lethargy, hypotesnion, pallor, and poor capillary refill.
Cyanotic heart defects (4 T's)?
Tetralogy of Fallot
Tricuspid Atresia
Truncus Arteriosus
Transposition of the Great arteries
What is Incontentia Pigmenti?
The initial Incontentia Pigmenti lesions are inflammatory bullae that eventually evolve into pigmented lesions.
The majority of affected individuals are female.
Mental retardations and seizures are common in pt's affected with Incontentia Pigmenti.
Incontentia Pigmenti involves the heart, eyes, and skeleton.
What is amnion nodosum?
a nodular condition of the fetal surface of the amnion, observed in oligohydramnios associated with absence of the kidneys of the fetus (or bilateral renal agenesis).
What is Bilateral Renal Agenesis?
Bilateral Renal Agenesis causes Potter's Syndrome.

Bilateral Renal Agenesis is the absence of both kidneys at birth. It is a genetic disorder characterized by a failure of the kidneys to develop in a fetus. This absence of kidneys causes a deficiency of amniotic fluid (Oligohydramnios) in a pregnant woman. Normally, the amniotic fluid acts as a cushion for the developing fetus. When there is an insufficient amount of this fluid, compression of the fetus may occur resulting in further malformations of the baby.
Toxoplasma gondii: what domestic animal?
Cat
Characterized by severe retardation of growth and mental development. Most of the patients die in early infancy. Characterisitic abnormalities include low-set ears and malformed ears, nail hypoplasia, abnormal fisting with index finger overlying the third finger, and rocker-bottom feet. The face is round with a narrow forehead, frontal bossing, hypertelorism, micrognathia, and antimongoloid palpebral fissures. Congental dz?
Trisomy 18. Edward's Syndrome
Cardinal features are cleft lip and palate, holoprosencephaly., and severe mental retardation. Congenital dz?
Trisomy 13 (Patau's Syndrome). Other features are ocular abnormalities (ie cyclops), congenital heart dz, can cutaneous defects of the scalp (cutis aplasia).
What is Holoprosencephaly?
Holoprosencephaly is an incomplete development of the forebrain often assoc. with absence of the corpus callosum, fusion of the frontal lobes, and a single venticle.
T/F: Repeated sensitization only affects the outcome in Rh disease. In ABO hemolytic disease, secerity is unrelated to previous pregnanicies. Consequently, a newborn can have severe ABO hemolytic dz on the first pregnancy which is rare in RH disease.
True
Newborn presents with generalized rash conosisiting of dozens of blue-purple macules. Also has hepatosplenomegaly. Dx?
Congenital CMV infection.
What acid-base disturbance would you see in an infant with Respiratory Distress Syndrome (Hyaline Membrane Dz)?
They develop hypercapnia and respiratory acidosis, with PCO2 levels in the 50-70 torr range. This hypercapnia results from diffuse atelactasis and ventillation/perfusion mismatching.
A 24-day-old former 24 weeks gestation 730g neonate had a difficiult initial respiratory course complicated by tension pneumothorax. During the first few weeks of life, CT scans showed a normal brain. Just now they found some abnormalities in the brain. What are they?
Periventricular Leukomalacia- is usually visualized as cystic lesion surrounding the lateral ventricles. These lesions are due to ischemic infarct in this watershed area of white matter.
A newborn has signs of congestive heart failure. Pt. hs significant cardiac murmur. Auscultation of the head reveals a loud cranial bruit. Dx?
Arteriovenous Malformation of the Great Vein of Galen. The Great Vein of Galen is a frequent location for such arteriovenous malformations..
A large full-term infant suffers brachial plexus injury due to shoulder dystocia. 72 hours later, the infant is noted to be tachypneic but is pink and well perfused. Dx?
Diaphragmatic paralysis because brachial plexus injury may be assoc. with phrenic nerve injury on the same side due to the proximity of the involved spinal nerve roots.
What is the most common cause of neonatal meningitis?
Gp B Strep is #1, E. coli is #2,
Most deaths related to ectasy (methylenedioxymethamphetamine) are due to?
Most ectasy related deaths are linked to hyperthermia (increased physical activity in an enclosed space) or hyponatremia (water intoxication or SIADH). The use of ectasy, an amphetamine with hallucinogenic and stimulant properties, results in CNS agitation, tachycardia, HTN, and diaphoresis. Serotonergic effects of ectasy also include enhnaced sensual perceptions and blunted perceptions of hunger and thirst .
Following a closed head injury, what would be the most ominous finding?
Eye changes such as dilated, fixed pupils usually are indicative of increasing intracranial pressure or focal neurological damage. Ahistory of unconsciousness, irritability, amnesia for the event and or vomiting are seen vommonly in the absence of major intracranial injury.
What is the average age of successful toilet training?
29 months old (bowel) and 32 months old (bladder)
What are the common signs of chronic lead poinsoning?
Common signs of chronic lead poisoning are lethargy, abdominal cramps and constipation, and anemia Vomiting is also common. Ataxia is seen accasionally.
Shellfish poisoning, shich is caused by eating shellfish that have ingested toxic dinoflagellates (red tide), is characterized by?
Weakness and paralysis
What is the chelating agent of choice for iron poisoning?
Deferoxamine is the chelating agent of choice for iron poisoning.
3 yo child who is unresponsive p/w weakness, excessive salivation, bradycardia, and constricted pupils. What is the most likely drug or toxin responsible?
The signs of coma, weakness, excessive salivation, bradycardia, and constricted pupils are classic for organophosphate poisoning. Organophosphates are potent and persistent inhibitors of acetylcholinesterase.
After being lifted up by one hand, a young toddler refuses to use that arm and holds that arm against her trunk at the albow with the forearm midway between protonation and supination. Dx?
Radial head subluxation. The radial head has partially escaped from the annular ligament at the elbow. The sublxation of the elbow is a common injury. The child holds the injured arm flexed at the elbow and refuses to move it. The subluxation is easily reduced by supination of the arm.
A 4yo falls on an outstretched arm. The child is likely to sustain a:
Fracture displacement of the radial epiphysis.
Epiphyseal separations are common childhood injuries. The growth plate or epiphysis is generally the weakest part of a child's bone, weaker even than the surrounding ligaments. Trauma would result in a tear of the ligament in an adult, but often results in an epiphyseal fracture in a child.
A fall onto an outstretched arm , which might result in a Colles' fracture in an adult, is likely to cause a separation fracture of the distal radial epiphysis in a child.
What is a Colles' fracture?
* radial fracture in distal 2 cm
* +/- ulnar styloid fracture
* dorsal displacement of distal fragment
* "silver-fork" deformity

* most common fracture in this region
* mechanism: fall on an outstretched hand
* complication: post-traumatic arthritis
What acid-base disturbance will you see in Aspirin poisoning?
Aspirin poisoning results in a mixed metabolic acidosis and respiratory alkalosis. In adolescents and adults, the predominant abnormality usually is the respiratory alkalosis.. Before 2 years of age, however, metabolic acidosis is the predominant process and the net change in arterial pH generally is a decrease.
What findings are the most suggestive of Shaken Baby Syndrome?
Retinal hemorrhages and cerebral hemorrhages are the most characteristic of the Shaken Baby Syndrome. Often, there are no external signs of trauma. This type s child abuse occurs most commonly in children less than 1 year of age and is associated with high morbidity and mortality. Of children who survive this injury, 35% will be blind or visually impaired.
What are the manifestations of the 4 stages of iron poisoning?
Stage 1: GI (vomiting, diarrhea, abdominal pain, and GI bleeding) and neurologic (lethargy and coma) signs.
2: deceptive quiescence
3: shock and metabolic acidosis and leukocytosis with or w/o hepatic injury.
4:Pyloric or antral stenosis and hepatic cirrhosis
With what drug can overdose be complicated with hypoglycemia?
Ingestion of an overdose of salicylates, ethanol, or oral hypoglycemic agent may result in symptomatic hypoglycemia. Agressivee therapy with dextrose is appropriate.
What is the "4-2-1" rule?
4cc/hr/kg per each of the first 10kg body wt
2cc/hr/kg per the next 10kg of body wt
1cc/hr/kg for every additional kg of body wt above 20kg.
Will give you the required hourly infusion rate for infants or children
What is the Holliday-Segar Method (Hint: 100-50-20)
100mL/kg per each of the first 10kg body wt
50mL/kg per the next 10kg of body wt
20mL/kg for every additional kg of body wt above 20kg.
Will give you the required daily infusion rate for infants or children
What are the sighs of the 3 levels of dehydration in infants and children?
Mild (5%): Normal to slightly increased heart rate, slightl dry mucous membranes, poor tear production, and slightly decreased urine output.
Moderate dehydration (10%): The above signs + decreased skin turgor and sunken anterior fontanelle.
Severe (15%): p/w symptoms of hypovolemic shock with decreassed blood pressure, delayed capillary refill, Kussmaul's respiration, and depressed sensorineurium.
What is the normal serum osmolality?
Serum osmolality is normally between 285-295mOsm/L, with a range of 275-300. Serum osmolality is approximately twice the Na conc. Serum osmolalit can be more accurately calculated by the formula: 2(Na)+ BUN/2.8 + glucose/18
If the calculated werum osmolality and measured serum osmolality are unequal then there exists some large extracellular fluid molecules (eg mannitol is used in treating pt's with cerebral edema).
Abnormalities of unconsciousness are seen when osmolality is <260 or >300 mOsm/L
At what levels of hyponatremia will you begine to see symptoms?
Symptomatic hyponatremia (eg wt gain, nausea, confusion)is not seen until serum Na is equal to or less than 120.
Seizures and coma occur when the serum Na drops quickly or becomes less than 110meq/L.
How does ethanol or alcohol impair gluconeogenesis and drug metabolism?
Gluconeogenesis is impaired in 2 ways:
1)ethanol is an acid in the blood stream and creates a metabolic acidosis which directly reduces the activity of the metabolic pathway responsible for glucose mobilization.
2) The depletion of NADH in the system by the metabolism of alcohol to acetaldehyde (via reduction of NAD by alcohol dehydrogenase) indirectly stops glucose production, as NADH depletion halts gluconeogenesis.

The other pathway of alcohol metabolism, which utilizes the microsomal system, results in the abnormal clearance of other drugs metabolized by this same pathway in the body. The preferential metabolism of ethanol by this system often causes the clearance of other drugs to be slowed and their blood levels to rise, resulting in their additive toxic effects to ethanol toxicity.
People with homocysteinuria type I are at increased risk for?
Thromboembolic events sue to changes in their vascular walls from increased levels of homocysteine leading to increased platelet adherence and thrombus formation.
What glycogen storage disease has the worst prognosis?
Type II (Pompe disease) is an abnormality of carbohydrate metabolism with autosomal recessive inheritance. Clinically normal at birth, the infants have a deficiency of acid maltase. that leads to build-up of glycogen products inside the cels. This in turn leads to marked muscle weakness, hypotonia, and severe cardiomegaly. Children with Pompe dz often die within the first 2 years of life from cardiac or respiratory failure.
Tyrosenemia type I is caused by a defect in what enzyme?
Fumarylacetoacetate Hydrolase.
Results in a moderate elevation in tyrosin levels This leads to an accumulation of intermediate metabolites (primarily succinylacetone), leading to damage of the liver, kidney, and CNS.
What is alcaptonuria?
Alcaptonuria is a metabolic dz caused by a defect in or lack of homogentistic acid oxidase which leads toblack urin and darkly pigmented sclerae, cornea, and ears. Alkaline urin appears black secondary to oxidation and polymerization of the homogenisic acid. The sclerae, cornea, and ear cartilage oof pt's with alcaptonuria become darkly pigmented (onchronosis) secondary to the black polymer of homogentisic acid. Later in life alcaptonuria pt's develop arthritis but this is the only disabling aspect of the disease.
What glycogen storage disease has the worst prognosis?
Type II (Pompe disease) is an abnormality of carbohydrate metabolism with autosomal recessive inheritance. Clinically normal at birth, the infants have a deficiency of acid maltase. that leads to build-up of glycogen products inside the cels. This in turn leads to marked muscle weakness, hypotonia, and severe cardiomegaly. Children with Pompe dz often die within the first 2 years of life from cardiac or respiratory failure.
Tyrosenemia type I is caused by a defect in what enzyme?
Fumarylacetoacetate Hydrolase.
Results in a moderate elevation in tyrosin levels This leads to an accumulation of intermediate metabolites (primarily succinylacetone), leading to damage of the liver, kidney, and CNS.
What is alcaptonuria?
Alcaptonuria is a metabolic dz caused by a defect in or lack of homogentistic acid oxidase which leads toblack urin and darkly pigmented sclerae, cornea, and ears. Alkaline urin appears black secondary to oxidation and polymerization of the homogenisic acid. The sclerae, cornea, and ear cartilage oof pt's with alcaptonuria become darkly pigmented (onchronosis) secondary to the black polymer of homogentisic acid. Later in life alcaptonuria pt's develop arthritis but this is the only disabling aspect of the disease.
Subluxation of the lens (ectopia lentis) generally occurs after 3 years of age in children with:
Subluxation of the lens (ectopia lentis) generally occurs after 3 years of age in children with Homocystinuria leading to severe myopia and iridodonesis (quivering of the lens). These patients lack the enzyme cystathione synthase and have multiple problems including severe mental retardation, increased thromboembolic events, psychiatric disorders, skeletal abnormalities resembling Marfan's dz, generalized osteoporosis and seizures.
Occurs inconsistently as a complication of severe and prolonged hyponatremia, particularly when corrected too rapidly. The same is true if a hypernatremic state is corercted too quickly. Dz?
Central Pontine Myelinolysis (Osmotic Myelinolysis)

CPM is concentrated, frequently symmetric, noninflammatory demyelination within the central basis pontis. In at least 10% of patients with CPM, demyelination also occurs in extrapontine regions, including the mid brain, thalamus, basal nuclei, and cerebellum. The exact mechanism that strips the myelin sheath is unknown.

One theory proposes that in regions of compact interdigitation of white and gray matter, cellular edema, which is caused by fluctuating osmotic forces, results in compression of fiber tracts and induces demyelination. Prolonged hyponatremia followed by rapid sodium correction results in edema. During the period of hyponatremia, the concentration of intracellular charged protein moieties is altered; reversal cannot parallel a rapid correction of electrolyte status. The term "osmotic myelinolysis" is more appropriate than "central pontine myelinolysis" for demyelination occurring in extrapontine regions after the correction of hyponatremia.

The duration of the hyperosmotic state determines the body's level of compensation of osmolality. The brain has been found to make "idiogenic osmoles" in order tp preserve cerebral oncotic pressure and to prevent neuronal shrinkage. Administering too much water too quickly can lead to cerebral edema and seizures, thus the hypernatremic dehydration myst be corrected slowly.
What is Pyruvate kinase deficiency (PKD)?
Pyruvate kinase deficiency (PKD) is one of the most common enzymatic defects of the erythrocyte. This disorder manifests clinically as a hemolytic anemia, but, surprisingly, the symptomatology is less severe than hematological indices indicate. Presumably, this is due to enhanced oxygen delivery as a result of the defect. The clinical severity of this disorder varies widely, ranging from a mildly compensated anemia to severe anemia of childhood. Most affected individuals do not require treatment. Individuals who are most severely affected may die in utero of anemia or may require blood transfusions or splenectomy, but most of the symptomatology is limited to early life and times of physiologic stress or infection.

PKD is an erythrocyte enzymopathy involving the Embden-Meyerhof pathway of anaerobic glycolysis. Erythrocytes have evolved without oxidative phosphorylation to form adenosine triphosphate (ATP), the compound essential for providing the erythrocyte energy. Pyruvate kinase (PK) catalyzes the conversion of phosphoenolpyruvate to pyruvate. This is 1 of 2 glycolytic reactions in the erythrocyte that results in the production of ATP. A discrepancy between erythrocyte energy requirements and ATP generating capacity produces irreversible membrane injury resulting in cellular distortion, rigidity, and dehydration. This leads to premature erythrocyte destruction by the spleen and liver. Low ATP levels are responsible for erythrocyte intracellular electrolyte concentration disruption due to failure of the adenosine triphosphatase cation pump.

The hexose monophosphate shunt and glutathione synthetic pathway protect the erythrocyte against destruction from free radicals and oxidative stress. Loss of adequate ATP diminishes their function.

Young reticulocytes retain mitochondria that produce ATP through oxidative phosphorylation. However, this comes at a price, a 6- to 7-fold higher oxygen requirement. Paradoxically, this can lead to the demise of any reticulocyte because its journey through the spleen, an environment deficient in glucose and oxygen, is lengthened by its adhesive tendency. In such an environment, the reticulocyte is at increased risk of metabolic failure.

Important intermediates proximal to the PK defect influence erythrocyte function. Two- to 3-fold increases of 2,3-diphosphoglycerol levels result in a significant rightward shift in the hemoglobin-oxygen dissociation curve. Physiologically, the hemoglobin of affected individuals has an increased capacity to release oxygen into the tissues, thereby enhancing oxygen delivery. Thus, for a comparative hemoglobin and hematocrit level, an individual with PKD has an enhanced exercise capacity and fewer symptoms. This is particularly advantageous during pregnancy because it enhances transfer of oxygen to the fetal blood. This most likely adds to the particularly benign course of this disease in many affected individuals.

PK exists as 4 isoenzymes. Two isoenzymes are encoded by a genetic locus on band 15q22, while the 2 others are encoded by a genetic locus on band 1q21. The former isoenzymes (ie, PK-M1, PK-M2) are found in striated muscle, brain, fetus, leukocytes, platelets, lungs, spleen, kidneys, and adipose tissue. The latter isoenzymes (ie, PK-L, PK-R) are found in liver, normoblasts, reticulocytes, and erythrocytes. The liver and erythroid precursors are capable of activating PK-M2 activity, but this is not the enzyme used under normal conditions.

In persons with PKD, band 1q21 is defective, resulting in deficient liver and red blood cell isoenzymes. The liver can compensate for the gene defect in 2 ways. First, because the enzyme deficiency results in a less efficient enzyme rather than a nonfunctioning enzyme, a greater quantity of enzyme can be produced. In addition, the liver can use residual PK-M2 activity. Early in maturation, erythroid precursors use the PK-M2 isoenzyme. However, as the cell matures, the PK-R isoenzyme replaces the PK-M2 enzyme. Because the erythrocyte cannot produce any new protein, it cannot compensate by increasing the quantity of isoenzyme or using residual PK-M2 isoenzyme.

Enzyme defects that have been described include decreased substrate affinity, increased product inhibition, decreased response to activator, and thermal instability. Mutations that strongly perturb enzyme kinetics and thermostability are associated with severe PKD.
Pyruvate Kinase Deficiency is the most common glycolytic enzyme deficiency. Which of clinical sign is the most common presentation of this disorder?
Pyruvate kinase Deficiency causes a congenitial nonspherocytic hemolytic anemia with resultant hyperbilirubinemia. The breakdown may ben so severe as to put the neonate at risk foe bilirubin encephalopathy and require exchange transfusion. Blood transfusion may be indicated for the anemia. Splenectomy improves the anemia but does not sure the underlying defect.
What is the basis of Wilson's dz?
Wilson's dz is an autosomal recessive disorder that leads to the accumulation of copper in the brain, kidneys, liver, and eyes. The accumulation of copper results from impaired incorporation of copper into ceruloplasmin and thus decreased biliary copper excretion. The gene responsible is located on chromosome 13 and is designated ATP7B. Typically, the first organ to manifest pathology of copper deposition is the liver.
Galactokinase deficiency leads to the development of cataracts of the eye vy early infancy. Dietary adjustments necesary for txt and prevention include:
strict eliminatin of mammalian milk, which is a source of lactose (which is broken down into galacatose, etc) is the txt of galactokinase deficiency. Acoidance of milk pdts and other pdts containing lactose is critical. Of started early in the neonatal period, this diet can prevent the formation of nuclear cataracts, usually the sole manifestation of the dz. Once formed, the cataracts are irreversible. The dz is autosomal recessive located to chromosome 17q24.

Galactokinase is the first enzyme in the digestin of galactose.
What is the most severe of the mucopolysaccharidoses (MPS)?
Hurler Disease is the most severe of the mucopolysaccharidoses, which are a gp of dz's associated with lysosomal accumulation of partially degraded acid mucopolysaccharides.
Hurler dz is the most severe of the mucopolysaccharidoses. Hurler dz is an autosomal recessive dz. It is assoc. with course facial features (gargoylism), clouding of the corneas, deafness, airway obstruction, thickening of the cardac valve leaflets, cardiomyopathy, congestive heat failure, poor growth and development, metal retardation, and early death often secondary to cardiopulmonary problems.
What is the characteristic finding in the serum of Adrenoleukodystropy (ALD)?
The characteristic finding of ALD is elevated serum levels of very long chained fatty acids, which accumulate in cerebral white matter and in the adrenal cortex.

ALD is an X-linked dz charcterized by progressive neurologic degeneration and adrenal insufficiency. Txt of ALD includes hormone replacement for adrenal insufficiency, restriction of very long chain fatty acids from the diet, provision of C18:1 and C22:1 fatty acids, and bone marrow tranplant.
What is the pathogenesis of Adrenoleukodystrophy?
Pathogenesis — Adrenoleukodystrophy and adrenomyeloneuropathy are caused by defective beta-oxidation of fatty acids in peroxisomes that leads to elevated serum concentrations of very-long-chain saturated fatty acids and accumulation of cholesterol esters of the fatty acids and gangliosides in the membranes of cells in the brain, adrenal cortex, and other organs [10]. The response of bovine adrenocortical cells to corticotropin (ACTH) in vitro is inhibited by very-long-chain saturated fatty acids, perhaps because they induce changes in cell membrane viscosity [11].

The responsible gene (ATP-binding cassette transporter D1 or ABCD1) is located on the long arm of the X chromosome (Xq28) [12] and encodes a peroxisomal membrane protein called ALDP (adrenoleukodystrophy protein) [13-15]. A codon deletion and a variety of point mutations cause adrenoleukodystrophy or adrenomyeloneuropathy, many resulting in a single amino-acid deletion or substitution concentrated in the ATP-binding domain of ALDP [16-18].

A report of 55 patients from 34 families found that the phenotypic expression of the genetic defect is highly variable
What are the manifestations of pyruvate dehydrogenase deficiency?
Pyruvate is converted to acetyl-CoA via pyruvate dehydrogenase complex during glycolysis. Newborn manifestations of pyruvate dehyrogenase deficiency include: Severe lactic acidosis with resultant tachypnea, lypotonia, lethargy, and coma in the first few days of life, or the dz may not manifest itself for months to yers until the child is stressed by infection, prolonged fasting, or other conditions reqquiring increased gluconeogenesis.
What is the pathophys of Fanconi Syndrome?
Fanconi syndrome (also known as Fanconi's syndrome) is a disorder in which the proximal tubular function of the kidney is impaired, resulting in decreased reabsorption of electrolytes and nutrients back into the bloodstream. Compounds involved include glucose, amino acids, uric acid, phosphate and bicarbonate.

The reduced reabsorption of bicarbonate results in type 2 or proximal renal tubular acidosis, which may in some cases exist on its own, or more usually in combination with the Fanconi syndrome.

There are different diseases underlying Fanconi syndrome. They can be inherited/congenital as well as acquired. Cystinosis is the most common cause of Fanconi syndrome in children; however, it is possible to acquire this disease later on in life. Other recognised causes of Fanconi's syndrome are Wilson's disease (a genetically inherited condition of copper metabolism), fructose intolerance, ingesting expired tetracyclines, and as a side effect of tenofovir.

Pathophysiology: A number of mechanisms can result in diminished reabsorption of solutes by the proximal tubule. The 3 main categories in which they can be classified are (1) alterations in the function of the carriers that transport substances across the luminal membrane, (2) disturbances in cellular energy metabolism, and (3) changes in permeability characteristics of the tubular membranes.

A number of symporters and antiporters affect the transport of solutes across the apical membrane of proximal tubule cells. The energy required for the function of these carriers is provided by the sodium-potassium (Na+/K+)–adenosine triphosphatase (ATPase) pump, which is located at the basolateral membrane.

Because of the large number of transport abnormalities observed in Fanconi syndrome, these anomalies are not likely due to alterations in the carriers, which are specific for each of the substances reabsorbed in the proximal tubule. A defect in cellular energy metabolism appears to be a more plausible cause. Under the scenario of a defective cellular energy metabolism, any process that results in a decrease in the level of adenosine triphosphate (ATP) would impair the performance of secondary active transport mechanisms, such as those of glucose, phosphate, or amino acids.

Cystinosis is one of the most common causes of Fanconi syndrome in children. The disease is caused by the accumulation of cystine in renal tubule cells.
What is Fanconi's Anemia?
FA is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure (aplastic anemia), and cellular sensitivity to DNA damaging agents such as mitomycin C.

FA is primarily an autosomal recessive genetic condition. There are at least 13 genes for which mutations are known to cause FA.

Because of the failure of the components of the blood - white and red blood cells and platelets - the body cannot successfully combat infection, fatigue, spontaneous hemorrhage or bleeding. Bone marrow transplantation is the accepted treatment to repair the hematological problems associated with FA. However, even with a bone marrow transplant, patients face an increased risk of acquiring cancer and other serious health problems throughout their lifetime.
Many patients eventually develop acute myelogenous leukemia (AML).
A 5wk-old male presents with poor feeding, poor growth, a peculiar odor, hypertonia, and hyperactive reflexes. Dx?
Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). Impaired metabolism of phenyalanine to tyrosine (recall that tyrosine is a precursor in the synthesis of several neurotransmitters) leads to build-up of phenypyruvic acid and phenylethylamine. These products as well as excess phenylalanine lead to CNS damage.

Phenylalanine is a large, neutral amino acid (LNAA). LNAAs compete for transport across the blood brain barrier (BBB) via the large neutral amino acid transporter (LNAAT). Excessive phenylalanine in the blood saturates the transporter. Thus, excessive levels of phenylalanine significantly decrease the levels of other LNAAs in the brain. But since these amino acids are required for protein and neurotransmitter synthesis, phenylalanine accumulation disrupts brain development in children, leading to mental retardation.
What is the most common enzyme deficiency associated with galactosemia?
Galactose-1-phosphate uridyl transferase (the second enzyme in the pathway of metabolizing galactose-after galactose kinase) is the most common cause of galactosemia due to enzyme deficiency. This enzyme is involvd in the conversion of galactose-1-phosphate to glucose-1-phosphate. Without this enzyme, galactose-1-phosphate accumulates causing parenchymal damage to the kidneys, liver, and brain. Indirect hyperbilirubinemia, acidosis, and urosepsis occur.
Infant has historp of vomiting and diarrhea, has wt loss of >10% of birth wt, low serum Na and elevated K+. Also has prominent clitoris and labial fusion (suggestive of virilization). Dx?
Adrenal Insufficiency, esp. Congenital Adrenal Hyperplasia (CAH due to 21-hydroxylase deficiency that leads to a glucocorticoid and mineralocorticoid deficiency).
What is Williams Syndrome?
Williams syndrome is caused by the deletion of genetic material from the region q11.2 of chromosome 7. The deleted region includes more than 20 genes, and researchers believe that the loss of several of these genes probably contributes to the characteristic features of this disorder. CYLN2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene, which codes for the protein elastin, is associated with the connective-tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis (SVAS) and supravalvular pulmonary stenosis (SVPS)) found in many people with this disease. Studies suggest that deletion of LIMK1, GTF2I, GTF2IRD1, and perhaps other genes may help explain the characteristic difficulties with visual–spatial tasks. Additionally, there is evidence that the loss of several of these genes, including CYLN2, may contribute to the unique behavioral characteristics, mental retardation, and other cognitive difficulties seen in Williams syndrome.

It is characterized by a distinctive, "elvish" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers, coupled with unpredictably occurring negative outbursts; mental retardation coupled with unusual (for persons who are diagnosed as mentally retarded) language skills; a love for music; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia. Williams syndrome shares some features with autism (such as difficulty understanding the state of mind of conversational partners[1]) and Fetal alcohol syndrome (e.g., certain facial features, possible mental retardation, and negative potential outbursts),[2] although persons with Williams generally possess very good social skills, such that this condition is sometimes called "cocktail-party syndrome". Temple Grandin, author of Thinking in Pictures, has claimed that the brain abnormalities of Williams syndrome are the opposite of those of autism.[3] There also appears to be a higher prevalence of left-handedness and left-eye dominance in those with Williams,[4] and cases of absolute pitch appear to be significantly higher amongst those with the condition.[5]

Another symptom of Williams syndrome is lack of depth perception and an inability to visualize how different parts assemble into larger objects (in assembling jigsaw puzzles, for example). This problem is caused by a defect in the brain that creates a sparsity of tissue in the visual systems of the brain. A team of researchers at the National Institute of Mental Health used functional magnetic-resonance imaging (fMRI) to watch the blood flow of the brains of test subjects while they were performing two tasks involving spatial relations. People with Williams Syndrome showed weaker activity in the section of the brain associated with spatial relations. Scans of brain anatomy of test subjects with Williams indicated a deficit of brain tissue in an area of the same section of the brain mentioned above. This deficit partly blocks transmission of visual information to the spatial-relations region of the brain. In the test, all participants of the study measured in the average intelligence range, to remove the possibility that the retardation aspect of Williams syndrome would have an effect on the visual systems of the tested individuals.
Where in the eye does the copper deposit in Wilson's dz?
The copper deposits in Descemet's membrane leading to Kayser-Fleisher rings.
What is Tay-Sachs Disease?
Tay-Sachs Dz is one of the sphingolipidoses and produces dz secondary to abnormal lysosomal accumulation of lycosphingolipids, gangliosides, and sphingomyelin. Faulty degradation due to absent or deficient lysosomal acid lydrolases is the defect. Tay-Sachs is assoc. with storage of GM2-ganglioside in the nervous system. Cherry red spots represent a normal red macular "cherry red spot" surrounded by a white area of storage material. Later the spots will turn darker as macular degeneration progresses. The dz is assoc. with progressive CNS degeneration, seizures, blindness, respiatory problems, and death, usually by 3-4 years of age.
What is Menkes Syndrome?
Menkes Syndrome is an X-linked recessive dz assoc. with faulty copper transport. In part, the basic defect includes an impaired ability to incorporate copper into certain enzymes that nees it as a cofactor. Children with the disease develop progressive neurologic deterioration, seizures, and eventual death (primariliy by 3 years of age). The most characterisitc aspect of the dz is the "kinky hair" which is brittle, depigmented, dull, short, and brush-like.
In what dz will you see arcus juvenilis?
Familial Hypercholesterolemia.

Arcus juvenilis is the appearance of an opaque ring close to the periphery of the cornea associated with hypercholesterolemia and hyperlipidemia. Other fings are xanthomas of the eyelids and pale depositis in the retina (lipemia retinalis). Familial hypercholesterolemia is accelerated cholesterol sythesis leading to increased risk of atherogenesis leading to peripheral vascular dz, heart attack, or stroke. The dz is assoc. with xanthomas of the skin.
11 month old male p/w abdominal distention and vomiting. His oral intake is 3 times his daily mainenance requirement of formula and his urine output is 10mL/kg/hr. The child is small for age and has abnormal "elfin" facies. Physical exam is remarkable ofr a loud grade IV/VI systolic ejection murmur at the left sternal border. Echo reveals supraclavicular aortic stenosis. Dx?
Hypocalcemia related to Williams Syndrome (microdeletion of chromosome 7 (involving microdeletion of elastin). Hypercalcemia (increased drinking and voiding) is commonly associated with Williams syndrome. The syndrome is assoc. with unique facial features of prominent lips and thin philtrum as well as cardiac abnomalies (eg supraclavicular aortic stenosis). Infantile hypercalcemia is often noted in Williams pt's and can lead to nephrocalcinosis, constipation, and mental status changes.
3 yo p/w recurrent rash that occurs with sun exposure. This sun sensitivityseems to be worsening with age. Skin exam reveals areas of resolving damage and new areas of exposure which is red, swollen, and excoriated. There is also splenomegaly and brownish teeth. Dx?
Porphyria, a group of inherited disorders that results in defects in heme biosynthesis and build-up of heme precursors. These precursors exist in elevated amounts in the skin creating the reactions to UV light. Some forms of porphyria cause repetitive attacks of abdominal pain (neurovisceral attacks).
4 month-old child p/w diarrhea and poor growth since birth. The child has adequate oral intake but recurrent large malodorous stools. Cystic fibrosis -. Celiac sprue -. Intestinal biopsy reveals normal appearing villi. Dx?
Abetalipoproteinemia (Bassen-Kornsweig dz).
This is an autosommal recessive dz resultin g in absence of Betalipoproteins in the plasma. The resultant features are fat malabsoprtion, failure to thrive, cerebellar ataxia, retinitis pigmentosa, and changes in RBS morphology (acanthosis). Management includes supplementation of fat soluble vitamins (ADEK) and maintenace of low fat diet.
What dz's are associated with:
1)urine odor of sweaty feet
2)urine odor of cabbage
3)urine odor of musty smell
4) urine odor of syrup
1)Isovaleric adiduria results from defective catabolism of leucine and manifests within the first few days of life. The odor resembles that of sweaty feet. Autosomal recessive and results in early death in severe cses and metal retardation in milder cses.
2) Tyrosinemia type 1 is assoc. with deficiency of faumarylacetoactetase leading to elevated levels of toxic metabolites succinylacetoacetone and succinylacetone. Clinical findings at infancy include vomiting, diarrhea, the odor of rotten cabbage in body fluids, jaundice, hepatomegaly, and liver damage.
3)Phenylketonuria results in urine odor of musty smell. PKU is due to lack of phenylalanine hydroxylase which leads to the accumulation of the metabolites of phenylalanine (phenylpyruvic acid and phenylethylamine) rather than the conversion of phenyalanine tino tyrosine. PKU results in mental retardation, seizures, movement disorders, and behavioral problems..
4) Maple syrup urine dz. Affected infants may require dialysis in the acute phase to eliminate the high levels of leucine, vline, and isoleucine in the blood. Lifelong txt requires limiting amounts of branched chain amino acids in the diet.
What is Klein-Levin Syndrome?
Klein-Levin syndrome: Klein-Levin syndrome refers to a constellation of symptoms that include episodes of excessive somnolence, overeating, and sexual disinhibition. Behavioral disturbances, such as irritability and confusion, are associated with Klein-Levin syndrome. Occasional hallucinations have been reported. Klein-Levin syndrome is 3 times more frequent in boys than in girls. Symptoms typically begin during adolescence, either gradually or abruptly. Onset follows a flu-like illness or injury with loss of consciousness in half the cases. Klein-Levin syndrome has a course that remits and relapses, with relapses occurring at intervals of weeks to months. Symptoms may last from 12 hours to 3 weeks. Klein-Levin syndrome usually resolves spontaneously during late adolescence or early adulthood.
Woman presents with faver, mental staus changes, conjunctivitis (conjunctival hyperemia), diffuse macular erythroderma, and multiple organ failure. Has been using long-term tampons. Dx?
Staphylococcal Toxic Shock Syndrome
What parasites gain entry by the direct larval penetration of the skin?
1) Stongyloides stercoralis
2)Ancylostoma duodenale (hookworm)
What viral dz's is Reye's syndrome associated with?
Most particularly Influenza B and Varicella infections. Reye's syndrome p/w coma, fever, hepatomegaly; impaired liver fn; CT will show cerebral edema; Must txt pt's with emergent liver transplantation.

Reye's syndrome is a potentially fatal disease that causes numerous detrimental effects to many organs, especially the brain and liver. It is associated with aspirin consumption by children with viral diseases such as chicken pox.

The disease causes fatty liver with minimal inflammation, and severe encephalopathy (with swelling of the brain). The liver may become slightly enlarged and firm, and there is a change in the appearance of the kidneys. Jaundice is not usually present.
What is Bullous Myringitis?
Usually a viral (occasionally bacterial) infection, bullous myringitis produces vesicles on the TM. It is treated with erythroymycin since it can be caused by mycoplasma.
What is the most common cauastive agent of bronchiolitis?
RSV (85%)
Adenovirus (11%)

* Other less common etiologic agents include the following:

o Mycoplasma pneumoniae

o Enterovirus

o Influenza virus

o Rhinovirus

o Chlamydia pneumoniae
Pt p/w fever, odynophagia, drooling, cna characteristic :sniffing dog" position; X-Ray of the throat shows marked edema of the epiglotis ("thumbs up sign")
What is the most common cause of epiglotitis?
H. influenzae
What is the cause of whooping cough?
Pertussis is caused by the toxin produced by Bordetella pertussis.
What is Chronic Granulomatous Disease (CGD)?
Chronic granulomatous disease (CGD), an inherited disorder of phagocytic cells, results from an inability of phagocytes to produce bactericidal superoxide anions (O2-). This leads to recurrent life-threatening bacterial and fungal infections.
It is a syndrome of recurrent infections, hypergammaglobulinemia, hepatosplenomegaly, and lymphadenopathy mostly in boys who invariably died in the first decade of life.

In response to phagocytosis neutrophils increase their oxygen consumption, which has been termed the respiratory or oxidative burst. The clinical significance of the respiratory burst was made evident when neutrophils from patients with CGD were shown to have a lack of increased oxygen consumption.

CGD is caused by a defect in phagocytic NADPH oxidase, which is responsible for producing O2-. This superoxide anion is then converted to relatively bactericidal reactive oxidants, such as hydroxyl radical (OH-), hydrogen peroxide (H2O2), peroxynitrite anion (ONOO-), and oxyhalides (HOX-, in which the X moiety is most commonly chlorine). The superoxide anion is generated by transferring electrons from the reduced NADPH to molecular O2 in response to physiologic stimuli, such as phagocytosis. This reaction is mediated by the phagocyte NADPH oxidase otherwise know as phagocyte oxidase (phox).
The nitroblue-tetrazolium (NBT) test is the original and most widely-known test for chronic granulomatous disease[8]. It is negative in CGD, and positive in normal individuals. This test depends upon the direct reduction of NBT by Superoxide free radical to form an insoluble formazan.
What are the signs and symptoms used in the diagnosis of Kawasaki Syndrome?
As many as 20% of tf untreated Kawasaki will develp coronary artery abnormalities (in kids!!!).
Diagnositic criteria include: faver for 5 days plus 4 of the following: 1) B/L conjunctival injection; 2) mucositis with cracked lips and strawberry tongue 3) erythema and swelling of the hands and feet and periungual desquamation 4) erythematous rash 5) cervical lymph node enlargement to >1.5cm
Cat-scratch Dz?
Bartonella henselae- most common symptom is regional lyphadenopathy. Samll erythematous papules occur at the innoculation site and precede the lymphadenopathu by 1-2 weeks.
12 yo boy who went camping 2 wks ago in Oklahoma now p/w fever and headache. Lab show leukopenia, thrombocytopenia, and hyponatremia. Dx?
Ehrlichia chaffeensis. Ehrichia infection is an acute systemic illness most commonly seen i the south-central, southwestern USA with infection caused by Ehrlichia chaffeensis and transmitted via thebite of the Lone Star Tick (Ambylomma americanum). Dz presents similarly to Rocky Mountain Spoted Fever (although less assoc. with rash) is reported with prominent CNS and GI problems; hyponatremia; leukopenia; anemia; and elevated liver transamianses. Txt: doxycycline.
What is Toxocara canis?
A dog intestinal roundworm stomodeum (nematode, Toxocara canis). The stomodeum is the mouth and lip region (buccal cavity) of nematodes. It consists of three lips, each equipped with small papillae. Toxocara canis is the cause of toxocariasis (visceral larva migrans) in humans. It is a parasitic infection caused by oral contact with material contaminated by eggs in dog feces. Ingested eggs hatch into larvae in the intestines, then migrate through the tissues to organs such as the liver, lungs, brain and eyes. The migrating larvae may cause anything from mild malaise to asthma, seizures, pneumonia and blindness.
Chracterisit c manifestation of toxocariasis are fver, eosinophilia, hepatiomagaly, leukocytosis, and hypergammaglobulinemia.
What parasite can cause hepatomegaly?
Toxocara canis
What parasite can cause rectal prolapse?
Trichuris trichuria (whipworm).
Heavy worm load of Trichuris trichuria can lead to Trichuris dysentery or chronic colitis. Trichuris dysentery isan acute diarrheal illness that includes passage of blood and mucous in the stool. The profound mucosal edema that occurs from inflammation in Trichuris dysentery leads to edema tenesmus and in severe cases, rectal prolapse.
What is CdLS?
Cornelia de Lange syndrome (CDLS), also known as Bachmann-de Lange syndrome, is a genetic disorder present from birth. In most individuals, CDLS is not associated with any family history of the disorder, but for others, siblings and/or parents may also have the syndrome. Researchers have identified a gene on chromosome 5 associated with CDLS (Heterozygous mutations in a gene named NIPBL-genes for the cohesin complex).
Symptoms
Many of the symptoms of Cornelia de Lange syndrome are present at birth. These include some or all of the syndrome's distinctive facial features:

confluent eyebrows that appear arched and well-defined (99% of cases)
long curly eyelashes (99%)
low front and back hairlines (92%)
turned-up nose (88%)
down-turned angles of the mouth and thin lips (94%)
small lower jaw and/or protruding upper jaw (84%).
Other physical abnormalities which may be present at birth or detected as the child grows may include:
very small head (microcephaly) (98% of cases)
eye and vision problems (50%)
excessive body hair, which may thin as the child grows (78%)
short neck (66%)
hand abnormalities, such as missing fingers, very small hands, and/or inward deviation of the pinky fingers
heart defects.
Infants with Cornelia de Lange syndrome are generally born small, sometimes prematurely. The infant has very tense muscles, has trouble feeding, and may have a low-pitched weak cry.
Language and behavior problems
Infants with CDLS do not develop as quickly as other children. Most have mild to moderate mental retardation, but some may be profoundly retarded (IQ range 30-85). Because of problems with the mouth, hearing impairment, and developmental delay, children with CDLS often have speech delay.

Behavior problems for children with CDLS may include hyperactivity, self-injury, aggression, and sleep disturbance. These children may appear to have autism due to a diminshed ability to relate to other people, repetitive behavior, difficulty with facial expression of emotion, and language delay.
What is Wiskott-Aldrich Syndrome?
Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder originally described as a clinical triad of thrombocytopenia, eczema (atopiclike dermatitis), and recurrent pyogenic infections. Only 27% of patients have the classic triad, 20% of patients have hematologic manifestations alone, and 5% have infectious features before diagnosis. Recurrent infections result from immunodeficiency of both humoral immune responses and T-cell–mediated immune responses. The responsible gene (WASP) was identified in 1994.

Pathophysiology: The hemorrhagic condition is due to both quantitative platelet defects and qualitative platelet defects. Thrombocytopenia is persistent. Platelets are small and fail to aggregate. Recurrent pyogenic infections are secondary to immunodeficiency of both humoral immune responses and T-cell–mediated immune responses. Eczema appears to be related to the abnormal function of the T cells.

Pt's are susceptible to infections with baceria with polusaccharide capsules, such as pneumococci resuling in grequent otitits media, sinusitis, pneumonia, and sepsis. Infections with Pneumocystis carinii, herpes- and CMV can also become a problem. The only cure is bone marrow translatation.
What endocrine disorders are associated with annovulation in teeangers?
Hypothyroidism, Cushing's Syndrome, and Hyperprolactinemia.
What is the most common cause of persistent stridor during infancy?
Laryngomalacia, which is caused by the underdevelopment of the cartilaginous support of the supraglottic airway structures. Laryngomalacia is the most common cause of persistent stridor in infants.
What is the most common cause of severe obstructive uropathy in children?
Posterior urethral valves are the most common cause of severe obstructive uropathy in children. They only occur in boys and in about 30% will lead to ESRD or chronic renal insufficiency.
What is the most common risk factor for development of bacterial tracheitis?
Viral croup (parainfluenza virus).
Bacterial tracheitis can cause life-threatening obstruction of the airway. It is typically caused by Staph. aureus. The tracheitis is a complication of the viral dz and not a primary bacterial infection.
What are the therapeutic uses of magnesium?
What are its adverse effects?
Magnesium is being used to treat preeclampsia, preention of cardiac arrhytmias, and reatment of status asthmaticus.
Adverse effects of magnesium relate to its ability to block the release of acetylcholine at the neuromuscular junciton. This leads to muscle weakness and respiratory failure when levels exceed 8-10. Txt of magnesiu poisoning would include administration of calcium which antagonizes the effects of magnesium at the neuromuscular junction.