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94 Cards in this Set

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A congenital condition affecting 1:16,000 live births in which the bile ducts within the liver become blocked, resulting in reduced blood flow from the liver. Fibrosis of the liver results, ultimately preventing any bile flow into the bowel.
Biliary atresia
The most common form of nonnutritional rickets
Familial Primary Hypophosphatemia, an X-linked dominant genetic disorder.
Affected individuals have defects in reabsorption of phosphate and conversion of 25(OH)D to 1,25(OH)2D in the proximal tubules of the kidneys resulting in low serum phosphate, elevated serum alkaline phosphatase, hyperphosphaturia, and no evidence of hyperthyroidism.
Familial Primary Hypophosphatemia, an X-linked dominant genetic disorder.
Children with this disorder present at the age of walking with smooth lower extremity bowing (as compared to angular bowing seen in calcium-deficient rickets). They have waddling gait, genu varum, genu valgum, coxa vera, and short stature. Children will also have dental deformities(intraglobular dentin) in contrast to the enamel defects seen in calcium deficient rickets.
RADIOLOGIC FINDINGS: coarse-appearing trabecular bone and widening, fraying, and cupping of metaphysis of the proximal and distal tibia, the distal femur radius, and ulna.
Familial Primary Hypophosphatemia, an X-linked dominant genetic disorder.

Genu valgum-"knock" knees
Genu varum-"bowed" legs
Coxa vera=decreased angle of inclination of the femoral neck
14 month old child has lower extremity bowing, a waddling gait, genu varum, and is at the 5th percentile for height. Lab values show low to normal serum Ca, moderately low serum phosphate, elevated serum Alk Phos, hyperphosphaturia, and normal parathyroid levels..
(genetic) Familial Primary Hypophosphatemia
A child has a spiral fracture in one of his long bones (ie humerus)
Think child abuse!!!
What should the diet of a cystic fibrosis pt be supplemented with?
Pnacreatic enzyme replacement therapy, fat-soluble vitamins (A,D,E,K) often iron, and sometimes Zinc is recommended.
5 yo girl is short for age and had mil bowing of her legs. PMH is notable for seizure disorder. Screening serum calcium, phosphurus, and Alk Phos levels and urinary amino acid conc's are normal. A bone age of her left wrist is notable for abnormal mineralization of the distal radius and ulna.
Radiographs show irregular mineralization of long bones.
Schmid metaphyseal dysplasia is an autosomal dominant dz that presents in a similar way to rickets with short stautre, bowing legs, and waddling gait.

Note that all the rickets syndromes present with elevated Alk Phos.
The most common cause of nonnutritional rickets. It is an X-linked dominant defect in the reabsorption of phosphate and conversion of 25(OH)D to 1.25(OH)2D in the proximal tubules of the kidney.. Findings include low serum 1,25(OH)2D, low to normal serum Ca, moderately low serum phosphate, elevated serum Alk Phos, hyperphosphaturia, in the absence of hyperthryoidism.
Genetic (Familial) Primary Hypophosphaturia
5 yo child arrives to the ER. His family reports that he has been increasingly confused over several hour prior to arrival. Viatl signs demonstrate tachycardia, hypotension, mild hypothermia, and (rapid) slow, deep respirations (Kussmaul breathing). Examination shows poor capillary refill, tenting of the skin, and altered mental status. He has had a several-pound weight loss over the previous few weeks, has been increasingly tired over several days prior to arrival, and has had a 2-3 day history of thirst, frequent urination during the daytime, and new onset of nocturnal enuresis (bed-wetting).
Diabetic Ketoacidosis
Txt for diabetic ketoacidosis
Treating a pt with DKA required inital expansion of the vascular volume, and THEN correction of the hyperglycemia and hyperketonemia. Noraml saline is used to expand the vascular volume. Fluid boluses sufficient to stabilize the heart rate and blood pressure are sometimes req'd, and then a slower infusion (usually a saline soln w/o glucose) to replace fluid losses and to ensure adequate urine flow is initiates. Potassium is added to IV fluids soon AFTER urine output is established to couteract the patient's total body potassium depletion. Txt of the hyperglycemia will drive potassium intracellulaly and result in a hypo kalemia even if the K+ levels initally appear high.
5 yo child arrives to the ER. His family reports that he has been increasingly confused over several hour prior to arrival. Viatl signs demonstrate tachycardia, hypotension, mild hypothermia, and (rapid) slow, deep respirations (Kussmaul breathing). Examination shows poor capillary refill, tenting of the skin, and altered mental status. He has had a several-pound weight loss over the previous few weeks, has been increasingly tired over several days prior to arrival, and has had a 2-3 day history of thirst, frequent urination during the daytime, and new onset of nocturnal enuresis (bed-wetting).
Diabetic Ketoacidosis
Txt for diabetic ketoacidosis
Treating a pt with DKA required inital expansion of the vascular volume, and THEN correction of the hyperglycemia and hyperketonemia. Noraml saline is used to expand the vascular volume. Fluid boluses sufficient to stabilize the heart rate and blood pressure are sometimes req'd, and then a slower infusion (usually a saline soln w/o glucose) to replace fluid losses and to ensure adequate urine flow is initiates. Potassium is added to IV fluids soon AFTER urine output is established to couteract the patient's total body potassium depletion. Txt of the hyperglycemia will drive potassium intracellulaly and result in a hypo kalemia even if the K+ levels initally appear high. A continuous infusion of insulin at a rate of 0.1 U/kg/hr is also started (with an initial bolus of 0.1 U/kg) with the infusion rate adjusted based on the results of the child's hourly glucose measurements. Glucose is added to the IV fluids when the serum glucose level drops to about 250-300.
What is the Somogyi phenomenon?
Somogyi phonomenon refers to a pt. who has hypoglycemic episodes at night manifested as night terrors, headaches, or early morning sweating who present a few hours later with hyperglycemia, ketonuria, and glucosuria; an outpouring of counterregulatory hormones in response to the hypoglycemia is responsible for the hyperglycemic episode.
Six months after being diagnosed with what appears to be insulin-dependent diabetes, a 5 yo boy demonostrates a significant decrease in his requirement for insulin. Why?
He has entered the "honeymoon phase" of his diabetes mellitus type 1, which is a temporary alleviation of problems before the Beta-cells are totally wiped out.
15 yo girl p/w RLQ abdominal pain, vomiting and lethargy of 3 day duration. Rectal exam is equivocal for pain, and pelvic exam is remarkable for pain upon movement of her cervix (Chandlier's sign). Lab data shows elevated WBC, serum glucose of 145, and serum bicarb of 21. UA: 1+WBC, 1+glucose, 1+ ketones. Diagnosis?
Pelvic Inflammatory Dz (PID). DOn't confuse this w/ DKA or Diabetes mellitus despite the high glucose levels.
16 yo obese girl presents with enuresis, frequent urination, a white vaginal discharge, and a dark rash around her neck. Srum glucose=250. UA: 2+glucose, otherwise negative. Diagnosis?
The description of an obes child with candida vaginitis (causing the white vaginal discharge) and acanthosis nigricans (the dark rash around the neck) is consistent with type 2 diabetes.
What is McCune-Albright Syndrome?
McCune-Albright syndrome in its classic form consists of at least 2 features of the triad of polyostotic fibrous dysplasia, café au lait skin pigmentation, and autonomous endocrine hyperfunction (ie precocious puberty). Within the syndrome there are bone fractures and deformity of the legs, arms and skull, different pigment patches on the skin, and early puberty with increased rate of growth.
What is the most common endocrine abnormality of McCune-Albright Syndrome?
Precocious puberty, the most common endocrine feature of McCune-Albright syndrome, is a result of gonadotropin independent autonomous ovarian or testicular function. Precocious puberty caused by this condition is far more common in girls than in boys. Girls as young as 4 months with McCune-Albright syndrome can have breast development or vaginal bleeding. A dominant ovarian cyst develops independent of stimulation by gonadotropins. This cyst secretes estradiol, which causes sexual precocity. In addition, excess estrogen exposure often stimulates increased growth velocity and can result in a marked advancement in skeletal maturity.
What is the mechanism behaind the pathophysiology of McCune-Albright Syndrome?
It was discovered only recently that McCune-Albright syndrome is the result of a postzygotic somatic mutation in the gene coding for the alpha subunit of the stimulatory G protein (Gsa). G proteins are involved in transmitting hormone signals intracellularly by coupling cell surface receptors to intracellular signaling cascades. The specific mutations that cause McCune-Albright syndrome cause constitutive activation of these intracellular signaling cascades in the absence of hormone stimulation.
Examinatin shows an intensely erythematous perianal area without skin breakdown, depigmentation,or scaliness. The genitals and anus are intensely itchy. Diagnosis?
Pinworms (Enterobius vermacularis) cause intense itching and erythema. Placing tape over the anus often identifies the worm.. Txt: Mebendazole.
What is encopresis?
Encopresis is involuntary "fecal soiling" in children who have usually already been toilet trained. Children with encopresis often leak stool into their underwear.
Common physical complaints associated with sexual abuse?
Dysuria, enuresis, frequent UTI's, genital irritation and itching, vaginal or penile discharge, vaginal bleeding, genital or anal pain, abdominal pain,and encoparesis.
Common behavioral indicators associated with sexual abuse?
Nightmares, sleep disorders, sexual behaviors inappropriate for developmental level regressive behaviors, eating disorders, acting out aggressively, poor school performance, and poor peer relationships.
What are the most common bacterial causes of acute otitis media?
1) Strep. pneumoniae
2) Non-typable Haemophilus influenzae
3)Moraxella catarrhalis

Others include: Staph aureus, Eschericia coli, Klebsiella, and Pseudomonas aeruginosa.
Child has a fever (usually less than 104F), ear pain (often nocturnal awakening the child from sleep), and generalized malaise. Systemic symptoms: anorexia, nausea, vmiting, diarrhea, and headache. Physical exam shows red, bulging tympanic membranethat does not move well with pneumatic otoscopy. Dx?
Acute otitis media
What medications are given for acute otitis media?
Typically, amoxicillin is given. If clinical failure is noted after 3 days txt, many change to amoxicillin-caluvulinate, cefuroxime axetil, azithromycin, cefixime, ceftriaxone, or consider tympanocentesis.
8 yo boy who swims a lot p/w red pinna that is extremely tender, a very red and swollen ear-canal, but an essentially normal tympanic membrane. Dx? Txt?
Otitis Externa ("Swimmer's ear") caused by swimming. Most likely Pseudomonas aeruginosa.
Txt: administration of topical mixture of polymixin and corticosteroids.
3 days after being given amoxicillin for suspected otitis media, a 4 yo boy is noted to have contined fever, ear pain, and swelling with redness behind his ear. His ear is pushed superiorly and laterally. Dx? Txt?
Mastoiditis.
Management: get CT scan
Txt: Myringotomy and parenteral antibiotics.
Findings include a red, bulging typanic membrane that does not move with pneumatic otoscopy; an opaque tympanic membrane with pus behind it, obscured middle-ear landmarks; and id the tympanic membrane is spontaneously ruptured pus may be found in the ear canal. Dx?
Otitis Media
occurs when infants take meconium into their lungs during or before delivery. Meconium is the first stool of an infant, composed of materials ingested during the time the infant spends in the uterus: intestinal epithelial cells, lanugo, mucus, amniotic fluid, bile, and water. Meconium is sterile, unlike later feces, and has no odor.

Meconium is normally stored in the infant's intestines until after birth, but sometimes (often in response to fetal distress) it is expelled into the amniotic fluid prior to birth, or during labor. If the baby then inhales the contaminated fluid, respiratory problems may occur.


Frequently, fetal distress during labor causes intestinal contractions, as well as a relaxation of the anal sphincter, which allows meconium to contaminate the amniotic fluid. Amniotic fluid is normally clear, but becomes greenish if it is tinted with meconium. If the infant inhales this mixture before, during, or after birth, it may be sucked deep into the lungs. Three main problems occur if this happens:
* the material may block the airways
* efficiency of gas exchange in the lungs is lowered
* the meconium-tainted fluid is irritating, inflaming airways and possibly leading to chemical pneumonia
Meconium aspiration syndrome (MAS, alternatively "Neonatal aspiration of meconium").

About a third of those infants who experience MAS require breathing assistance.
Immediately after the birth of a tern infant, the child is noted ot have a scaphois adbomen, cyanosis, and respiratory distress. Heart souns are heard on the right side of the chest, and the breath sounds seem to be diminished on the left side.
What is dx and txt?
Dx: diaphragmatic hernia.
Scaphoid abdomen suggests the presence of a gross diaphragmatic hernia.

Txt: Intubate with endotracheal tube.
A term infant appears to be normal but develops respiratory distress every time he stops crying. When crying he is pink. When not crying he makes vigorous respiratory efforts but becomes dusky nevertheless.
Dx? Txt?
Choanal atresia=is a congenital disorder where the back of the nasal passage is blocked, usually by abnormal bony or soft tissue. It can be unilateral or bilateral.

Infants are obligate nose breathers.. When crying they can breathe through their mouth, but whn quiet they must have a patent nose.

Txt: Intubation immediately until surgical correction.
What si the therapy for narcosis
(respiratory depression in a newborn caused by maternal pain medications)?
IV, IM, SQ, or endotracheal administration of naloxone (Narcan).
A child with _______ often presents with immediate respiratory distress, scaphoid abdomen, cyanosis, and heart sounds that are displaced ot the right side of the chest.
diaphragmatic hernia
What is cerebral palsy?
Cerebral palsy is a disorder of movement and posture that results from an isult to or anomaly of the immature CNS. CP is the most common movement disorder of childhood (2 in 1000 live births). 1/3 of CP pt's also exerience seizures. 60% of CP pt's are mentally retarded. CP has been associated with events during pregnancy, and less commonly from effects of the labor or delivery. It may be the result of prematurity, and be associated with intrauterine growth retardation. CP is most likely the result of antenatal insults.
What organism is of greatest concern in Cystic Fibrosis patients?
Bacterial pneumonia is often caused by Staph aureus, but subsequent infections are caused by Pseudomonas aeruginosa. Most patients with advanced disease harbor heavy, slime-producing variants of P. aeruginosa called mucoid variants that are rarely found in other conditions. Once established, these bacteria are virtually impossible to erradicate!!!
What is the most common mutation in white Cystic Fibrosis patients?
deltaF508
A term-appearing infant develops vomiting and abdominal distention at 10 hours of life. No passage of stool has been recorded since birh. Abdominal radiograph shows bowel lopps and a "bubbly" pattern in a portion of intestine, and the colon appears narrow. Dx?
Meconium ileus.
Meconium ileus occurs when inspissated meconium obstructs the distal ileum. It is due to a deficiency of pancreatic enzymes. Obstruction begins in utero, resulting in underdevelopmetn of distal lumina. It is almost always associated with cystic fibrosis.
What are some complications of meconium ileus (in cystic fibrosis patients) make cystic fibrosis a surgical emergency?
Meconium ileus can cause vulvulus and perforation peritonitis.
A 2 month-old infant presents to the ER for recent onset of bulging anterior fontanelle. THe infant is fussy and has vomited before coming to the ER. No fever. CT of head is negative for trauma or tumor. Meningitis has been ruled out. What vitamin deficiency and disease are you worried about?
Vitamin A deficiency can result in pseuodotumor cerebri, which causes headache, vomiting, and neurological abnormalities due to increased intracranial pressure. The bulging fontanelle may be the presenting sign of cystic fibrosis that has lead to a deficiency of Vit A,D,E, K!!!
Extrapulmonary sighs of cystic fibrosis?
Digital clubbing
Recurrent sinusitis
Growth retardation
Fat malabsorption
What is meconium ileus in the newborn pathognomonic for?
Meconium ileus in the newborn is nearly pathognomonic for cystic fibrosis.
What is pseudotumor cerebri (aka Idiopathic Intracranial Hypertension)?
Idiopathic intracranial hypertension (IIH) is a disorder of unknown etiology. It affects predominantly obese women of childbearing age. The primary problem is chronically elevated intracranial pressure (ICP), and the most important neurological manifestation is papilledema, which may lead to progressive optic atrophy and blindness.
Current theories include increased resistance to cerebrospinal fluid (CSF) outflow at the arachnoid granulations that line the dural venous sinuses and through which CSF reabsorption is thought to occur by bulk flow. Alternatively, occult cerebral venous outflow abnormalities may produce IIH.

The only permanent morbidity in IIH is vision loss from decompensation of papilledema with progressive optic atrophy.
What are the main clinical manifestations of Acute Lyphoblastic Leukemia?
Leg and joint pain
Fever
Splenomegaly
Petechiae

Most of the clinical signs and symptoms are a result of either replacement of normal bone marrow components with uncontrolled proliferation of immature lymphoid cells or infiltrates of extramedullary sites by immature lymphoid cells.
What is pancytopenia?
A reduction in circulating erythrocytes, leukocytes, and platelets secondary to a decreas in blood cell production in the bone marrow.
What is Constitutional Growth Delay?
Constitutional Growth Delay is a condition in which an otherwise healthy child's growth is slower than expected, but for whom one or more parents demonstrated a delay in pubertal development but later demonstrated normal adult height. On these children, bone age equals height age.
What screening tests should be performe din growth deficiency of a child?
CBC (anemia), ESR (chronic inflammatory diseases), electrolytes (acidosis or renal abnormlaities), and general health chemistry panel (hepatitis, liver dysfn.), urinanalysis (infection renal dz), serum thyroid fn tests (hypothyroidism), serum IGF-1 and IGF-B3 (Growth Hormone deficiency), and is the pt is a female, possibly chromosomal karyotype (Turner Syndrome 45XO).
17 yo girls is 4'10" while parents are of normal height. PMH is remarkable for life-long short stature and cardiac surgery when she was 1 yo. She has never had a menstrual period. What do you suspect (hint chromosomes)?
Turner Syndrome 45XO. The pt. probably had coarctation of the aorta at 1yo. COmmon features in Turner Syndrome include female phenotype, short stature, sexual infantilism, streak gonads, broad chest, low hairline, webbed neck, congenital lymphedema of the hands and feet.
14 yo boy in the juvenile detention center presents as tall, slim, and has especially long legs. His testes are very small for his age and feel firm and fibrotic. His phalus is undersized. His mother reports that he had difficulty in reading, spelling, and math early on but now is having difficulty in all of his classes. Dx?
Boys with Klinefelter Syndrome (47XXY) are tall for their age; the testes are smaller than normal and feel firm and fibrotic. Physical exam revelas a eunichoid body habitus and reduced upper-to-lower body segment ratio secondary to a long lower segment.
What is the most common cause of death in infants b/w 1wk and 1yr of age?
SIDS: Sudden Infant Death Syndrome
Most SIDS victims are boys.
More cases are reported in the winter.
The vast majority of cases occur when the infant is asleep.
What is SIDS?
SIDS: Sudden Infant Death Syndrome
SIDS=The sudden death of an infant that cannot be explained by results of a postmortem examination, death scene investigation, and histoical information.
The cause of SIDS is unknown. Risk factors for SIDS are: prone-position sleeping and exposure to cigarete smoke. SIDS is more common in premature and low-birth-weight infants. SIDS is more common in AA and Native-American babies.
What is asphyxia?
Asphyxia is a condition of severely deficient supply of oxygen to the body. In the absence of remedial action it will very rapidly lead to unconsciousness and death. Asphyxia is the same as suffocation. Anoxia means the pathological state in which tissues do not get (enough of) oxygen.
What is Eisenmenger's Syndrome?
Pulmonary HTN resulting in right-to-left shunting of blood. This may occur with large ventricular septal defects, atrioventricular canal lesions, and patent ductus arteriosus.
What is the most common feature of acyanotic congental heast lesions?
Shnting of blood from the systemic into the pulmonary circulation (Left-to-right shunt).
When does the ductus arteriosus typically close?
Clusure of the ductur arteriosus usually occurs within 10-15 hours after birth, but almost always by 2 days of life. The increase in plasma oxygen tension that ocurs at birth is associated with vsoconstriction of the ductus.
What happens if the ductus arteriosus fails to close?
In PDA, the pulmonary vascular resistance falls when the ductus fails to close, allowing shunting of blood from left (systemic circulation) to right (pulmonary circulation), with resultant myocardial stress, pulmonary vascular congestion, and respiratory difficulty. Eventually, Eisenmenger's Syndrome may develop (Pulmonary HTN resulting in right-to-left shunting of blood).
Infant with a systolic or continuous heart murmur that is described as "machinery" or "rolling thunder" in quality. The precordium is active, the pulses are bounding, and the pulse pressure is widened.
CXR: pulmonary congestion and cardiomegaly.
Dx?
Dx? Patent Ductus Arteriosus

The precordium is active, the pulses are bounding, and the pulse pressure is widened sue to runoff of blood into the pulmonary artery during diastole.
What do you give to induce closure of ductus arteriosus?
Indomethacin a PGE2 inhibtor.
A common acyanotic heart lesion consisting of a contiguous atrial and ventricular septal defect as well as abnormal AV (ie mirtal and tricuspid) valves. A systolic murmur of large pulmonary flow is present, and there is a diastolic murmur at the lower left sternal border. The second heart sound may be widely split. CXR: cardiac enlargement and pulmonary vascularity is increased on film. ECG: cardiac enlargement. Dx?
Atrioventricular (AV) Septal defect (aka AV canal or endocardial cushion defect)
2 month-old girl with Down's Syndrome is noted to have a systolic and a diastolic heart murmur, and th second heart sound is split. The liver edge is palpable 4cm below the right costal margin. Baby has been sweaty and sometimes bluish around the moth when she nurses, and she seems to be eating less lately. Dx?
AV canal (AV septal defect aka endocardial cushion defect) is common among children with Down Syndrome.
2 yo AAF presents to the ER with complaint of sudden onset of abdominal pain and weakness. She is afebrile, but is tachypneic and tachycardic. Mucus membranes are pale Lung sounds clear. III/IV systolic murmur is noted at the lower sternal border. Spleen tip is palpable 2 cm below the right costal margin. Dx?
Splenic sequestration is an urgent diagnosis. Rapid pooling of blood in the spleen , as can occur in Sickle Cell Dz, can lead to hypovolemia wirh significant morbdity and even death if not addressed quickly. The heart murmur is due to chronic anemia associated with sickle cell dz.
Following fluid boluses to correct severe dehydration in a 4 month old boy who has a left-to-right shunt (VSD), the child's respiraory rate increases. Dx?
Pulonary vascular ocngestion ("fluid overload") is a potential comlication of IV fluid administration in any pt. Persons with cardiac problems that involve left-to-right shunts are at particular risk for this problem.
39 week gestation infant is delivered w/o complications. The infant does well in the first 12 hours of life. At 15 hours of life, the in fant is no longer interested in feeding and appears dusky.. The infant's respiratory rate is 65 bpm, and capillary refil is 3 sec. No heart murmur, but there is a loud single second heart sound. Dx? Txt?
Dx: Transposition of the Great Arteries.

Txt: PGE1 to maintain PDA so that blood can get oxygenated.
CXR: "egg-on-a-string" appearance.
EKG shows right axis deviation and right ventricular hypertrophy, which is normal finding in a newborn because of the normal minimal flow in the pulmonary circuit prior to birth.
Diagnosis is confirmed by echocardiography
Transposition of the Great Arteries.
Tetrology of Fallot
"PROVe"
Pulmonary Artery Stenosis
Rt Ventricular Hypertrophy
Overriding Aorta
Ventricular septal defect
e

In TOF,the intraventricular septum is displaced anteriorly, resulting in the right ventricular outflow obstruction, and also overriding aorta over teh right ventricle. Hypertrophy of the Rt Ventricle develops as a result of the hemodynamic changes caused by the other abnormalities.
CXR: boot or wodden shoe (coeur en sabot) appearance of the heart
Tetralogy of Fallot
Child with a certain congenital heart dz is found in a suatting position most of the day. What is the dz? Whay does he do it?
Children with Tetraloy of Fallotoften experience hypercyanotic spell ("Tetralogy spells") caused by sudden increase in right-to-left shunting of blood. These spells may be brout on by activity or by agitation, or may occur without appaaewnt precipitant. Chidren w/ TOF are often found assuming a quatting posture, which compresses peripheral blood vessels, thus increasng pulmonary blood flow and systemic arterial oxygen saturation.
List the cyanotic heart defects?
The 4T's:

Tetralogy of Fallot
Transposition of the Great Vessels
Truncus Arteriosus
Total anomolous pulmonary venous return (obstructive)

Tricuspid valve abnormalities (tricuspid atresia or Epstein anomally)
CXR with boot shape heart, decreased pulmonary vascular markings, and a right aortic arch. Dx?
Tetralogy of Fallot
List the acyanotic heart defects?
-Subendocardial cusion defect
-Atrail Septal Defect (ASD)
-Ventricular Septal Defect (VSD)
-Patent Foramen Ovale
-Patent Ductus Arterosus
-Eisenmenger's Syndrome
WHat is tricuspid atresia?
Tricuspid atresia is occurs when there is no outlet between RA and RV, forcing systemic venous return to enter the LA via the foramen ovale or an associaed atrial septal dfect. A ventricular septal defect is often present as well.
What is Tricuspid valve of Epstein?
Tricuspid valve of Epstein is usually regurgitant and often obstructs ventricular outflow due to a large anterior leaflet.
A term infant is born w/o complications. At 24 hours, a II/VI systolic murmur is noted in the mitral area that radiates tothe back. A similar murmur is also noted in the right axilla. Infant is pink and breathing easily. Feeding well. Dx?
Peripherl pulomonic stenosis is a benign murmur of childhood. Other benigh murmur of childhood include venous hum (a low pitched murmur at the sternal notch only heard when the child is upright) and the Still vibratory murmur (a high "pitched" musical sytolic murmur heard best in the supine position).
4 yo boy presents for check up. Mother notes that boy breathes fast and his lips turn dusky when he runs or plays had. The symptoms resolve once he stops the activity. He has a II/VI systolic murmur at the left upper sternal border that radiates to the back, and a faint click is heard. Dx?
Pulmonary valve stenosis.

The clinical presentation of exercise induced cyanosis and systolic murmur are characterisitic of pulmonary stenosis.
15 month old child is playing blocks in a squatting postition in the waiting room. The skin around the mouth is faintly blue but she appears to be comfortable. She then begins running around with her brother and suddenly becomes dyspneic and cyanotic. She returns to squatting postition and soon is breathing comfortably with only slight perioral cyanosis. Dx? CXR?
Tetralogy of Fallot. Expect to see "boot shaped" heart
This child with TOF has improvement when squatting and "Tet" (cyanotic) spells when running.
3 yo boy with daily (quotidian)high-spiking fevers of nearly 3 weeks duration. A rash and "body aches" wax and wane with the fevers. He also has a 1-day hisotry of refusal to bear weight. His examination shows lymphadenopathy, organomegaly, and joint swelling. CXR is negative but the CBC reveals lymphocytosis, thrombocytosis, and anemia. Dx?
Juvenile Rheumatoid Arthritis (aka Still Disease) is the most common rheumatologic disorder in kids in the US affecting 250,000 kids.

Avg age of onset: 16 yo
Duration of symptoms 6 weeks

Quotidian high-spiking fevers associated witha rash is highly suggestive of Juvenile Rheumatoid Arthritis.
Joint-Related Sympotms:
-Morning stiffness
-Gelling (stiffness after activity)
-Guarding
-Deformity

Systemic Manifestations
-Asymptomatic uveitis***
-Fatigue
-Anorexia
Failure to thrive
-Rash
-Irritability
-Lymphadenopathy
-Hepatosplenomegaly
-Pericarditis

Dx?
Juvenile Rheumatoid Arthritis (JRA).

Note that asymptomatic uveitis only present in pauciarticular and polyarticular JRA.
What is uveitis?
Uveitis aka Iritis aka Iridocyclitits

Uveitis is an infalmmation of the naterior chamber and initailly leads to synechiase (an adhesion between the iris and either the cornea or lens, manifested by an irregular pupil). Uveitis is entirely asymptomatic and can lead to visaul loss.
14 yo girl presents with 3-day history of swollen "neck nodes" and a diffuse salmon-colored rash. SHe had a sore throat 5 days ago, but these symptoms resolved 2 days ago. On exam, she is found to have enlarged posterior auricular and suboccipital lymph nodes, as well as tender swelling of multiple large and small joints. Dx?
Rubella.
Vaccination against rubella is given at 1 year of age and again at school entry. The major reson for vaccination is to prevent congenital rubella syndrome, a devastating condition, as disease is usually mild in older pt's.

Congenital Rubella Syndrome:
Babies whose mothers have rubella during pregnancy (especially during the first trimester) can be born with severe birth defects, including:

Mental retardation and/or behavior problems
Hearing problems
Vision abnormalities, blindness., and/or cataracts
Heart defects
Increased risk of diabetes throughout early life
Death in utero
5 yo girl p/w 4wk history of mild swelling and decreased ROM in the left knee and right elbow. What procedure should be done next for diagnosis?
A slit-lamp examination of both eyes because Juveile Rheumatoid Arthritis (JRA) is suspected.
Friction rub. Dx?
Pericarditis
What are the three types of Juvenile Rheumatoid Arthritis?
3 types of JRA:
-Systemic-onset JRA
-Polyarticular JRA
-Pauciarticular JRA
A 6 month old girl who has been drinking goat's milk exclusively, displays pallor, atachycardia, irritability, chronic diarrhea, and poor growth; her weight has fallen to about the 95th percentiale at birth to below the 5th percentile for a 6 month old infant. Labs reflect a macrocytic (MCV>100) anemia with poor bone marrow response. Dx?
Folate deficiency secondary to exclusive use of goat's milk for nutrition.
Goat's milk is nutritionally deficient in folate and vitB12.
Causes of megaloblastic/macrocytic anemia (MCV>100)?
Macrocytic anemia:
-hypothyroidism
-congenital bone marrow dysfn. (including Blackfin-Diamond Syndrome)
-Aplastic anemia
-Trisomy 21
-Vit B12 deficiency
-Folate deficiency
-Active hemolysis

Note that loss of large amount of blood will result in normocytic anemia.
What supplement must mothers be on at the time of pregnancy to prevent neural tube defects?
Folate. Women of childbearing age are encouraged to take folate supplements.
In what foods is folate found?
Meats, leafy green vegetables, and citrus fruits.
What infectious disease is associated with goat's milk?
Brucellosis from unpasteurized gaot's milk
What are the top two causes of Failure to Thrive (FTT)?
#1 Nonorganic causes
#2 GI disorders
What are the benefits of circumcision?
Decreased incidence of UTI's in early years of life, and decreased incidence of penile (squamous) cancer in late adulthood.
What is leukocoria?
Leukocoria aka white pupilary reflex aka cat's eye reflex.
2yo child has unilateral strabisms and white pupilary reflex (leukocoria) in that same eye. Dx?
Retinoblastoma
Causes of white reflex (leukocoria)?
-Retinoblastoma
-Visceral larva migrans (Toxocara canis infection)
-Retrolental fibroplasia
2 yo is admited b/c of weakness and coma.. According to his parents, he had been well prior to admission, when they noted diarrhea, cough, wheezing, and sweating. Examination reveals a comatose child with diffuse weakness and areflexia. Pupils are pinpoint and unresponsive. Pt. has generalized wheezing. Oral secretions are copious. Dx? Txt?
The sudden onset of neurologic signs or symptoms in a previously well toddler should raise the suspicion of toxin or poisoning.
This child has organophosphate poisoning (pesticides). These drugs produce muscarinic effects (rhinorrhea, wheezing, pulmonary edema, salivation, vomiting, cramps, bradycardia, and pinpoint pupils) as well as nicotinic effects (twitching, weakness and paralysis, convulsions, coma, and respiraory failure).
Txt: Atropine will reverse the muscarinic effects of these agents.