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164 Cards in this Set
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Neonate, less than 1 wk old presents with:
● respiratory failure ● meningitis ● DIC ● acute tubular necrosis ● peripheral gangrene what dx are you thinking? what is the prognosis? |
early onset GBS sepsis
prog: usually refractory to therapy and quickly evolves to shock, coma, death |
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How would you describe this?
Likely dx? |
Description: massive ecchymoses with sharp, irregular ("geographic") borders with deep purple to blue color
Dx: purpura fulminans (cutaneous infarctions and/or acral gangrene) of DIC ecchymoses = very large bruised area |
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2 wk old baby presents with:
● fever ● lethargy ● poor feeding ● hypotonia ● seizures ● bulging fontanelle what dx are you thinking, and what are the next steps? |
meningitis, most likely late-onset GBS infection
to confirm dx: ● (+) blood test ● CSF culture note that all newborns with fever and sepsis should have full workup for sepsis, including: ● urine cultures also note - if mother has already received ABX, culture results may be negative and: ● latex agglutination test may be more helpful |
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How would the latex agglutination test work for diagnosing GBS disease?
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See picture above - shows agglutination test for ABO compatibility. In testing for GBS, the antibodies would bind to the bacteria & lead to agglutination in a positive test
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● microcephaly
● microphthalmia ● hepatosplenomegaly ● chorioretinitis dx? |
congenital toxoplasmosis
microphthalmia = |
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5 mo - routine check up:
● signs of chronic upper airway obstruction - stridor, wheezing, coughing, SOB ● symptoms worse while supine, relieved by neck extension ● symptoms do not respond to inhaled bronchodilators or corticosteroids most likely dx? |
mechanism of wheezing: upper airway (trachea) compression by a vascular ring (double aortic arch, R-sided aorta, pulmonary sling, anomalous innominate or left carotid artery)
Tx for severe disease is surgery |
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Previously healthy 4 yr old:
● fevers (for 3 days) ● moderate respiratory distress ➔ tachypnea, substernal retractions ● tachycardic + 3/4 holosystolic murmur heard best at apex ● enlarged liver Whats the dx? Explain each finding, and what work up would you propose? |
Dx = Myocarditis - inflammation of the myocardium
pathophys: inflammation can lead to tissue necrosis, thereby worsening myocardial function, dilating the heart, and ⬆ EDV with resultant pulmonary edema & congestive heart failure etiology: infxns, toxins, autoimmune diseases (enteroviruses are MCC in kids) typical presentation: ● flulike illness characterized by fever, anorexia, lethargy, irritability ● flu followed by respiratory distress from acute heart failure notes: ● holosystolic mumur - due to mitral regurgitation from dilated cardiomyopathy ● hepatosplenomegaly - develops due to passive congestion ● complications: acute decompensation & fatal arrhythmias workup: - CBC - C reactive protein - cardiac enzymes - blood & viral cultures - EKG (low voltage QRS & sinus tachycardia) & ECHO (global hypokinesis, LVH, L Vent dysfunction, pericardial effusion) - myocardial biopsy = "gold standard" - allows for disease stage classification |
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15 mo old loses consciousness after crying. no incontinence or post-ictal stage, she is alert & appropriate. No signs of cyanosis. PE is unremarkable
Whats the dx/ next steps? |
DX: breath holding spell - episode of apnea that are sometimes assoc with loss of consciousness and precipitated by frustration, anger or pain.
● common in kids ages 6-18 mos ● R/o cyanotic spells, which may be assoc with hypoxia & ↓ blood flow to the brain - usually occur after painful events or minor trauma, and kid is pale Tx: reassure the parents that episodes are not harmful and do not have any long-term effects -- do not need to get an EEG |
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pansystolic mumur heard loudest at left lower sternal border
Whats the dx? Whats the presentation? |
Dx: VSD
Presentation: tires easily, SOB, doesnt have to be blue note: may also hear diastolic mumur at the apex b/c of increased flow across the mitral valve |
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What are "hypercyanotic" or "tet" spells?
What condition do you see them in? |
"Tet"rology of Fallot
● most common 2-6 mos of age ● occur in morning or after a nap when SVR is low ● Precipitating factors: stress, drugs that ↓SVR, hot baths, fever, exercise ● Mechanism: unknown, but likely due to ↑CO with fixed RVOT = ↑ R to L shunting = ↑ cyanosis ● if prolonged or severe: syncope, seizures, cardiac arrest |
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What's the dx?
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Bootshape heart, right aortic arch, ↓pulmonary vascular markings = TOF
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Pt presents in a "Tet" spell - should you give oxygen?
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No, oxygen is not needed
Place child knee- to-chest position to ↑ Systemic Vascular Resistance (read carefully - NOT venous return!) Note: Tet spells are a result of exertional activities that are believed to ↑ peripheral vasodilation, hyperventilation and/or contractility of the RV outflow tract -- this ↑ R to L shunting across the VSD = ↑ systemic venous return of deoxygenated blood leading to worsening cyanosis by knees - to -chin, ↑ systemic vascular resistance results in ↑ blood flow from the RV to the pulmonary circulation can also give morphine & IVF to increased pulmonary blood flw |
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Pt presents in a "Tet" spell - should you give oxygen?
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No, oxygen is not needed
Place child knee- to-chest position to ↑ Systemic Vascular Resistance (read carefully - NOT venous return!) Note: Tet spells are a result of exertional activities that are believed to ↑ peripheral vasodilation, hyperventilation and/or contractility of the RV outflow tract -- this ↑ R to L shunting across the VSD = ↑ systemic venous return of deoxygenated blood leading to worsening cyanosis by knees - to -chin, ↑ systemic vascular resistance results in ↑ blood flow from the RV to the pulmonary circulation can also give morphine & IVF to increased pulmonary blood flw |
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whats a common side effect of phenytoin?
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gingival hyperplasia - need to emphasize need for dental hygiene!
this is a picture of gingival hyperplasia in a female with epilepsy, treated with phenytoin |
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Describe these findings, and dx
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Indurated, very tender, inflammatory nodules mostly in the pretibial region.
Lesions are seen as red, ill-defined erythemas but palpated as deep-seated nodules, hence the designation. Dx: Erthytema nodosum In this 49-year-old female there was also fever and arthritis of the ankle joints following an upper respiratory tract infection. The throat cultures yielded beta-hemolytic streptococci. |
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Describe & Dx
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Description: tender, deep-seated nodules and plaques
Dx: Erythema nodosum (note - usually located on the lower extremities) |
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Describe what you see, the likely diagnosis, and associations you need to know
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Description: facial hemangioma or port-wine capillary nevus on the face (in the distribtution of the first division of the trigeminal nerve)
Dx: Sturge-Weber Syndrome Associated with intracranial calcifications on the ipsilateral side and focal seizures on the contralateral side of the facial hemangioma |
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these symptoms became apparent 1-6 wks following a heart surgery in an infant:
● fever ● malaise ● chest pain ● irritability, decreased appetite ● may have dyspnea/ arthralgia What's likely going on? if child was vomiting too, what would be the concern? |
postpericardiotomy syndrome - a relatively common form of pericarditis (inflammation of pleura/pericardium) that follows heart surgery
Main complication: pericardial effusion note: emesis is the main symptom in children with cardiac tamponade Image: Postpericardiotomy Syndrome. Left: Immediately after coronary artery jump graft surgery, there are small bilateral effusions. Right:Three weeks later, there is a moderately large left pleural effusion (white arrow). |
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This is a continuous, machinery-like murmur heard over the ULSB, louder in systole
note that S2 is buried in the murmur |
Patent Ductus Arteriosus: turbulent flow is heard as blood is shunted L to R from the aorta to the pulmonary artery
other signs: may feel **bounding peripheral pulses** and wide pulse pressure Tx: Indomethacin |
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What heart defects are dependent on a patent ductus arteriosus?
What medication can be given to keep the ductus open? |
Ones that present in first 2-3wks of life are usually due to ductal-dependent lesions:
● Tetralogy of Fallot ● Tricuspid Atresia ● TAPVR with obstruction ● Aortic Coarctation (severe) ● Pulmonic atresia ● Hypoplastic Left heart Tx: Prostaglandin E1 |
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describe the rash
most likely dx/ cause? Whats the tx? |
Description: A macule or papule appears at the site of the bite and expands to become an annular lesion with a raised, red border and central clearing forming a bull's-eye pattern. As the bull's-eye ring expands, the lesion known as erythema migrans forms - which describes the concentric rings that form
Smart phrase: erythema chronicum migrans rash Tx: if child >9yrs, use doxycycline if <9yrs DO NOT USE A TETRACYCLINE!! - use amoxicillin for Stage 1, Ceftriaxone or PCN G if Stage 3 (CNS lesions) |
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1 day old baby, with Down syndrome, developed persistent vomiting
● bilious vomit ● no abdominal distention ● dehydration Dx? |
XRay shows dilated stomach & duodenal bulb ("double bubble") sign in a pt with DUODENAL ATRESIA
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Whats the dx? underlying cause?
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"double bubble" sign (gas filled and dilated stomach and duodenum, prox to the site of atresia) = duodenal atresia
Etiology: failure to recanalize lumen after solid phase of intestinal development |
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newborn baby,
● nonbilious projectile vomiting after feeding ● palpable olive-shaped abdominal mass ● visible gastric perilstasis ● hypochloremic hypokalemic metabolic alkalosis What dx is most likely? What test would confirm dx? |
Pyloric stenosis - an acquired condition caused by hypertrophy and spasm of the pyloric muscle, resulting in gastric outlet obstruction
the "olive" that you can palpate is the hypertrophied pyloris U/S can confirm dx - Note the elongated and curved pyloric channel with parallel walls and the thickened muscle with a "shoulder" projecting into the antrum in the pictures above Barium upper GI series can also be obtained, showing a "string sign" caused by barium moving thru an elongated, constricted pyloric channel |
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This condition presents in infancy with:
● coughing, vomiting, and gagging after feeding ● respiratory distress is common after feeding ● drooling, and have mucus and saliva bubbling from nose and mouth ● may be assoc with VACTERL syndromes ● may have h/o polyhydramnios Whats the dx & best way to confirm dx? tx? |
Dx: Tracheoesophageal fistula (TEF) = connection btw the trachea & esophagus - there are many types
[note fistula = abnormal opening or passageway] VACTERL= Vertebral anomalies, Anal atresia (imperforate anus), Cardiac anomalies, TE fistula, Renal anomalies, Limb anomalies Dx: attempt to place oral gastric tube into stomach, and confirm that the tube is blocked from passing into the stomach with CXR (in the XRAY on prev slide, it's a case of atresia & the catheter is coiled in the upper pouch of the esophagus while there is gas below the diaphragm = atresia) DO NOT do a barium swallow, b/c of high risk of aspiration Tx: surgery |
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Teenager presents with:
● ataxia ● dysmetria ● dysarthria ● pes cavus ● hammer toes ● diminished proprioception & vibration ● diminished or absent reflexes ● upgoing toes (+ Babinski) ● kyphoscoliosis ● nystagmus What dx is likely? How to confirm dx? What are important complications with this dx? |
Dx: Friedrich ataxia, Aut Rec/ Trinucleotide repeat disorder - expansion of GAA of the frataxin gene on chr 9
confirm dx with Genetic test No tx, just supportive to improve QOL Most common causes of death are: ● concentric hypertrophic cardiomyopathy ● respiratory complications Prog: following dx, rarely have more than 20 yrs |
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What is this? What is it associated with? What is the tx?
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Omphalocele = herniation of abdominal contents (usually only intestine, tho it can include liver and/or spleen) thru umbilical root, which is covered only by peritoneum
may be assoc with other congenital defects including: ● chromosomal anomalies ● **heart defects*** ● diaphragmatic hernia Associated syndromes: ● Beckwith-Wiedemann syndrome (omphalocele, macrosomia, hypoglycemia) ● trisomies 13 & 18 Tx: take care of more serious conditions first, then serial redutions of intestines back into abdomen until skin closure is possible |
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Describe this rash
Whats the likely dx? how to dx? |
petechial rash - thrombocytopenic purpura - or "blueberry muffin syndrome"
Dx: this is congenital CMV (tho Rubella also has the blueberry muffin rash) Related findings include: ● hepatosplenomegaly in virtually all newborns, ● microcephaly, ● **periventricular calcifications, ventriculomegaly, encephalitis, ● chorioretinitis, ● hearing loss or neurodevelopmental sequelae, ● intrauterine growth retardation ● postnatal failure to thrive Workup: can do URINE CULTURE for CMV ● need to do neuro evaluation with head CT & brain MRI Tx: gancyclovir has been used for some neonates, but there is insufficient efficacy adta |
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Describe, Dx, Tx?
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Description: thick white plaques on tongue or mucosa that can't be scraped off
Dx: KOH prep reveals pseudohyphae and budding spores of candida albicans Tx: topical antifungals - mycostatin suspension |
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What is the major route for excretion of bilirubin for the fetus in utero?
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transplacental passage
(unconjugated bilirubin passes easily across the placenta, and this is the major mech for fetal elimination of bilirubin. intestinal degradation of bilirubin to biliverdin is accomplished primarily by the intestinal flora, which are obviously not present in utero. It's good that unconjugated bilirubin can move thru the placenta b/c the fetus is unable to conjugate bilirubin!) (not thru the kidney or gut!) |
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Which antibiotic is contraindicated in neonates with hyperbilirubinemia and why?
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Ceftriaxone, b/c it displaces bilirubin from albumin
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Premie baby was doing well and advanced to full enteral feeds at 14 days of life. At day 15 of life she was noted to have significant abdominal distention & bloody stools. XRAY shown above
Whats the dx? |
Necrotizing Enterocolitis
XRAY shows loops of bowel & pneumatosis intestinalis (arrows) = air bubbles w/in the bowel wall Etiology: caused by bowel ischemia & bacterial invasion of intestinal wall S/S: ● intolerance of oral feeds (vomiting, bilious aspirates, large volume residue in stomach) ● abdominal distention ● temperature instability ● respiratory distress ● acidosis, sepsis, shock ● occult bood in stool Tx: d/c feeds, nasogastric decompression, IVF, ABX, surgery MC complications = stricture |
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2-year-old boy is bought to the pediatrician because his mother has noted a persistent, dark brown coloration of his urine. He is otherwise healthy, and his mother notes that a cousin displayed similar symptoms. Tests reveal conjugated hyperbilirubinemia.
What is the likely dx? |
Dubin-Johnson Syndrome (absent MRP2, protein that helps excrete conjugated bilirubin into bile)
As the hyperbilirubinemia is due to a predominant rise in conjugated bilirubin, bilirubinURIA is characteristically present. Aside from elevated serum bilirubin levels, other routine labs are normal. PE is usually normal except for jaundice, although an occasional patient may have hepatosplenomegaly. "BLACK LIVER": A cardinal feature of DJS is the accumulation in the lysosomes of centrilobular hepatocytes of dark, coarsely granular pigment. As a result, the liver may be grossly black in appearance. This pigment is thought to be derived from epinephrine metabolites that are not excreted normally. |
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When patient stops breathing due to intense pain with deep palpation of RUQ -
What is the likely dx? What workup should be done? What is this sign called? |
+ Murphy's sign
Dx: Cholecystitis = inflammation of the gallbladder that occurs most commonly because of an obstruction of the cystic duct from gallstones Clues: referred pain to Right Shoulder, a severe, colicky pain Abdominal U/S will be able to show the stones |
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Pt has RLQ pain on passive extension of the hip - what is the likely dx, and what is the name of this sign?
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Dx: Appendicitis: inflammation occurs after luminal obstruction. If the appendix is not removed, appendiceal wall necrosis results in perforation and peritoneal contamination.
Psoas sign: Irritation of the psoas muscle caused by passive hip extension in patients with appendicitis. |
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Pain on passive internal rotation of the flexed thigh. Examiner moves lower leg laterally while applying resistance to the lateral side of the knee (asterisk) resulting in internal rotation of the femur.
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Dx: Appendicitis
Obturator Sign: inflamed appendix in the pelvis is in contact with the obturator internus muscle, which is stretched by this maneuver. |
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Onset of ADHD is no later than age ______
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7 yrs
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What drugs are used in the tx of ADHD?
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Psychostimulants (1st line): Methylphenidate (ritaline), dextroamphetamine (dexedrine), pemoline (cylert)
*note: Adderall = Dextroamphetamine + Amphetamine Atomoxetine (second line drug), (Strattera) is a nonstimulant, selective NE reuptake inhibitor Atypical antipsychotics: work by blocking dopamine- Tricyclic antidepressants and bupropion Clonidine - caution when using in combination with methylphenidate |
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A 7-year-old boy appears distracted. His mother notes that he daydreams "all of the time," and when he is daydreaming he does not respond to her. She describes the episodes as short (lasting several seconds) and occurring many times per day. When he is not daydreaming, he is attentive and can complete tasks. His behavior in class is not disruptive. Which of the following is the best next step in management?
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This child does not fit the classic ADHD pattern. Episodes of "daydreaming," which last several seconds, may be petit mal or absence seizures; an EEG is needed.
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What are the common coexisting psychiatric conditions associated with ADHD?
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oppositional-defiant disorder (35.2%),
conduct disorder (25.7%), anxiety disorder (25.8%), depressive disorder (18.2%). |
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An 8-year-old boy has severe pain with ear movement.
no fever, nausea, vomiting, or other symptoms. He has been in good health, having just returned from summer camp where he swam, rode horses, and water-skied. Ear exam: somewhat red pinna that is extremely tender with movement, a very red and swollen ear canal, but an essentially normal TM. What's your next steps? |
Dx: Otitis Externa ("swimmer's ear")
Tx: topical mixture of polymixin & corticosteroids Insertion of a wick may assist in excess fluid absorption in the macerated ear canal. Causative organisms include Pseudomonas species (or other gram-negative organisms), S aureus, and occasionally fungus ( Candida or Aspergillus species). |
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What is the most worrisome side effects of the ADHD drug atomoxetine?
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increased suicidal ideation, liver injury
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2 wks after a viral illness, this girl presents with a CC of several days of weakness of her mouth. Her smile is asymmetric, and is unable to shut her right eye. What is the dx, and how would you document these findings?
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PE findings: Bells phenomenon present: Paralysis of R upper and lower facial muscles, R side of mouth drooping, unable to close R eye
Assessment: unilateral weakness of all facial muscles of sudden onset, possibly associated with a viral prodrome, no evidence of central nervous system pathology, no evidence of a CPA lesion, no history of otologic disease. dx: Bell's palsy tx: complete, spontaneous resolution occurs in 85% of cases |
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What's the age?
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Some of the developmental characteristics of a healthy 2 month old baby include turning the head to locate sounds, visually fixing on close objects, vocally responding to familiar voices and smiling in response to stimuli.
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What are the 2 pathophysiologic mechanisms in sickle cell anemia that cause the morbidities associated with the disease?
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1) Hemolysis - sickled RBCs undergo intravascular and extravascular hemolysis, which leads to anemia, reticulocytosis (⬆ in reticulocytes= immature RBCs), jaundice, gallstones, and occasional aplastic crises.
2) Vaso-occlusion: intermittent and chronic vasoocclusion result in both acute exacerbations (ie painful crisis, stroke), and chronic disease manifestations (retinopathy, renal disease). The adhesion of sickled erythrocytes to inflamed vascular endothelium is a principle pathologic component |
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What type of anemia is seen in sickle cell?
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Hemolytic anemia
(NOT sideroblastic anemia = where the bone marrow produces ringed sideroblasts b/c of problems utilizing iron during heme synthesis - sideroblasts are abnormal nucleated erythroblasts with granules of iron accumulated in perinuclear mitochondria) |
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Whats the definition of infantile colic?
What are some possible tx? |
excessive crying >3hrs/day, >3days/wk, >3wks/month
present w/in first 3wks of life, resolves spontaneously by 4 months of age proposed tx: soothing measure, simethicone (⬇ surface tension of gas bubbles) or probiotics |
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Describe this
What is the differential dx? |
ambiguous genitalia: enlarged clitoris and partially fused labia majora
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Ambiguous genitalia at birth (see pic)
Labs show hyponatremia, hyperkalemia & hypOtension Whats the likely dx? What's the workup needed? tx? |
21-α hydroxylase deficiency (most common CAH - 90%)
⬇ aldosterone = "salt waster" ⬇ cortisol = hypoglycemia workuo: - karyotype (note that female will be virilized, males can have normal genitalia) - ⬆ 17-OH progesterone (will be picked up from newborn screening) Tx: fluid & electrolyte replacement can give IV hydrocortisone for adrenal crisis |
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ambiguous genitalia at birth (see pic)
hypOkalemia, mildly ↑Na+, hypertension Whats the likely dx? What workup is needed? tx? |
Congenital Adrenal Hyperplasia, 11β hydroxylase
⬆deoxycorticosterone = retain Na+, gets rid of K+ = hypokalemia & hypertension NOTE: 17hydroxylase def also has HYPERTENSION, but not virilization workup: ⬆ 11-deoxycortisol (aka specific compound S) |
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Newborn baby has severe hypotension, hypoglycemia, and ambiguous genitalia
Whats the likely dx? |
Congenital adrenal hyperplasia, 3β-hydroxysteroid dehydrogenase def (rare)
etiology: early block in all 3 adrenal cortex steroid pathways workup: ⬆ DHEA & 17-hydroxypregnenolone |
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What is the likely dx for each of these characteristic cardiac silhouettes?
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A) boot-shaped heart: Tetrology of Fallot, or Tricuspid Atresia
B) Egg-shaped heart: Transposition of great arteries C) Snowman silhouette: Total anomalous pulmonary venous return (supracardiac) D) Rib notching: Coarctation of the aorta (older children) |
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cyanotic infant with left axis deviation by EKG
what should you suspect? |
Tricuspid atresia
note that most cases (90%) are assoc with VSD, and 30% are assoc with transposition of the great arteries (TGA) |
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Describe the rash
what do you suspect & what is associated with the dx? |
erythematous macules and papules appearing initially on the face and spreading inferiorly to the trunk and extremities, usually within the first 24hrs
Dx: Rubella Classic triad: sensorineural deafness, cataracts, heart malformations (PDA, ASD) |
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What drug is indicated in sickle cell patients with frequent, acute, painful episodes, as it tends to increase the HbF levels?
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Hydroxyurea
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Describe & diagnose
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multiple, well-demarcated, flat, blue/gray lesions scattered on back, present at birth
dx: mongolian spots most common location is sacral/presacral area usually disappears in first few yrs of life |
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Describe & diagnose
what associated finding would you expect on physical exam? |
micrognathia, microcephaly, rocker bottom feet, clenched fist with 2nd and 5th digits overlapping the 3rd and 4th fingers, low set ears
Dx: Trisomy 18 PE: expect to hear a heart murmur - VSD most common |
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Describe & Diagnose
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Bilateral cleft lip & polydactyly
Dx: Trisomy 13 |
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Teenager developed this rash after taking amoxicillin for URI
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Description: copper colored papules on trunk & extremities after taking oral amoxicillin
Dx: Epstein-barr virus mononucleosis |
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Teenager developed this rash after taking amoxicillin for URI
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Description: copper colored papules on trunk & extremities after taking oral amoxicillin
Dx: Epstein-barr virus mononucleosis |
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A child presents with rash on legs, abdominal pain, and arthritic pain in knee.
Whats the dx? What are the important associations to know (tetrad)? |
Henoch-Schonlein Purpura (HSP) - an IgA mediated vasculitis, many times following URI
● Arthritis/ arthralgia - most commonly knees & ankles ● Renal Disease ---may have hematuria (RBC casts) & proteinuria - see IgA mesangial deposits on fluroscopy ● Palpable purpura - rash on legs, butt & arms ● GI symptoms (abdominal pain, vomiting, guaiac + stool, intussusception) tx: self-limited disease - full recovery expected in 4-6wks (can tell parents they shouldn't have any permanent joint or kidney damage) |
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Describe, Dx, Tx
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Description: classic palpable purpura on the lower legs of a 19-year-old male.
More of the story: The patient had colicky abdominal pain, arthritis, and microhematuria and skin biopsy revealed IgA immunoreactivity around postcapillary venules. In addn to skin biopsy, can also do a kidney biopsy, which shows (under immunoflourescence) IgA deposits in the mesangium Tx: self-limited, with complete recovery in 4-6wks. 1-5% of pts develop chronic renal failure |
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What is the cause of bilious emesis in a newborn within hours after the first feeding?
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Duodenal Atresia
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Describe/Dx/Tx
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Lesions are greasy yellow or red scales, (usually NOT pruritic, to R/O atopic dermatitis)
Dx: "Cradle Cap" or seborrheic dermatitis of the scalp Tx: Selenium sulfide shampoo & topical antifungals |
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What is the next step in the management of a pt with febrile neutropenia due to chemotherapy?
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admit to hospital
blood cx IV broad spectrum abx |
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A child presents to the ER with mental status changes, hypoglycemia, and lesions suggestive of chickenpox. What is the most likely dx?
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Reye's Syndrome
(Goljan notes): post-infectious triad: (1) Encephalopathy - first starts off sleepy - vomiting - stuporous - seizures - coma - (2) Fatty change in liver (3) ⬆ transaminases clues: often follows chickenpox or influenza infection, kid given aspirin |
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Pruritic, dry rash of face/ flexor surfaces
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Atopic Dermatitis = Ezcema
"the itch that rashes, not the rash that itches" described as an erythematous, scaling, inflammatory eruption with itching, edema, papules, vesicles, and crusts. Infant: Cheeks, trunk, and extensor surfaces of extremities, knees, and elbows Child: Neck, feet, and antecubital and popliteal fossae Older child: Neck, hands, feet, and antecubital and popliteal fossae Tx: (1) Reduce pruritus. Topical corticosteroids and bland emollients help reduce pruritus. Oral antihistamines may also be used for their sedative effect at night and may reduce pruritus. (2) Hydrate the skin. Emollients (petrolatum and fragrance-free ointments and creams) prevent the evaporation of moisture via occlusion and are best applied immediately after bathing, when the skin is maximally hydrated, to "lock in" moisture. (3) Reduce inflammation. Topical steroids are invaluable as anti-inflammatory agents and can hasten the clearing of eruptions that are erythematous (inflamed). Medium-strength corticosteroids can be used on areas other than the face and occluded regions (diaper area); low-strength steroids (e.g., 1% hydrocortisone) may be used in these thin-skinned areas. Newer immunomodulators, such as topical tacrolimus and pimecrolimus, are approved for the intermittent treatment of moderate to severe atopic dermatitis in children 2 years old and older. However, their long-term side effects have not been fully evaluated. (4) Control infection. Superinfection with Staphylococcus aureus is extremely common. First-generation cephalosporins such as cephalexin are the usual antibiotics of choice for infected atopic dermatitis. (5) Avoid irritants. Gentle fragrance-free soaps and shampoos should be used; wool and tight synthetic garments should be avoided; tight nonsynthetic garments may help minimize the "itchy" feeling; consider furniture, carpeting, pets, and dust mites as possible irritants and/or trigger factors. |
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What immunodeficiency is dx with a NEGATIVE nitroblue tetrazoline (NBT) dye test?
What organisms are these pts susceptible to? |
Chronic Granulomatous Disease (CGD)
lack of NADPH oxidase activity = impotent phagocytes susceptible to catalase (+) organisms: S. aureus E Coli Klebsiella Aspergillus Candida tx: prophylactic TMP-SMX IFN-γ |
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kernicterus is most closely related to the serum level of:
-total bilirubin, conjugated or unconjugated bilirubin? |
unconjugated bilirubin
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small amts of unconjugated bilirubin in the plasma generally do not enter the brain because?
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unconjugated bilirubin is tightly bound to albumin
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Day 2 of life, newborn baby doesn't move his left hand & his left eyelid droops. What is the most likely dx?
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Dx: Klumpke paralysis
typical hand involvment: the limb lacks a Moro reflex, and there is loss of grasp reflex. The wrist flexors, long digital flexors, and the intrinsic muscles of the hand are impaired, but the muscles controlling the shoulder and elbow are usually spared. The hand is supinated, the wrist extended, and the fingers clawed Involvement of the C8 and T1 roots causes paralysis and wasting of the small muscles of the hand and of the long finger flexors and extensors. Horner syndrome is sometimes an associated finding. This kind of lower plexus paralysis often follows a fall that has been arrested by grasping a fixed object with one hand or may result from traction on the abducted arm |
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4 wk old evaluated for macrocephaly.
Coronal & sagittal sutures are split 1cm & his fontanelle is bulging. What is the most likely diagnosis? |
Split sutures + bulging fontanelle = signs of increased ICP
Dx = Hydrocephalus (abnormal buildup of CSF - either from blockage of flow, decreased absorption, or increased production) Congenital causes: Chiari type II Malformation, Dandy walker malformation, aqueductal stenosis Sunset sign: tonic downward deviation of both eyes caused by pressure from the enlarged 3rd ventricles on the upward gaze center in the midbrain Workup: EMERGENT CT SCAN tx: ventriculoperitoneal shunt |
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Why should you wait until after 1yr to introduce cow's milk?
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can cause iron-deficiency anemia, b/c cow's milk offers less bioavailable iron & may also result in stool blood loss
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why is it important to screen for lead poisoning?
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most patients exposed to lead are asymptomatic
realize that even patients exposed to very low levels of lead may suffer neurologic sequelae- including: developmental delay learning problems mental retardation |
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Boy unable to retract the foreskin
What is the name of this condition? What's the management? |
Phimosis
May need to be circumcised Can be normal up to age 6 but is always abnormal if ballooning of the foreskin occurs |
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foreskin is fixed in retraction
What is the name of this condition, What is the management? |
Paraphimosis= occurs when the retracted foreskin cannot be returned to its normal position and acts as a tourniquet, resulting in obstruction to lymphatic flow and edema
Surgery is required emergently should venous return also become obstructed |
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What is the name of this condition, what is the management?
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Paraphimosis= occurs when the retracted foreskin cannot be returned to its normal position and acts as a tourniquet, resulting in obstruction to lymphatic flow and edema
Surgery is required emergently should venous return also become obstructed |
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Describe/ dx/ explain etiology
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Central maxillary incisors with severe tooth decay, and bilateral maxillary lateral incisors with demineralized area near gingival line (yellow–brownish discolorations). The upper incisors are often the first teeth involved in nursing bottle caries
nursing bottle caries seen ~24-30mos of age Strep mutans is most common bacterial agent - any liquid other than water that is retained around the teeth may serve as a substrate for bacteria most freq assoc with hx of falling asleep with a nipple (breast or bottle) in the mouth or in children who breastfeed excessively or who carry around a bottle as a habit |
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It is unusual to see hand preference in an infant younger than ___
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18 months of age
an early hand preference may indicated weakness or spasticity of the contralateral upper extremity |
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A 12mo old boy whom you have followed since birth arrives for a well-child visit. The mother is concerned that the baby's manner of crawling, where he drags his legs rather than using a four-limbed movement, is abnormal. She says that the child only recently began crawling and he does not pull to a stand. You noted at his 6-month visit that he was not yet rolling over nor sitting; previous visits were unremarkable as was the mother's pregnancy and vaginal delivery. On examination today, you note that he positions his legs in a "scissoring" posture when held by the axillae.
What is the most likely diagnosis? |
Most likely diagnosis: Cerebral palsy (CP).
Next step: Vision and hearing testing, consider a brain MRI scan (Possible imaging findings include periventricular leukomalacia, atrophy, or focal infarctions), and arrange for therapy with a developmental specialist. EEG may be helpful if pt has seizures Cerebral palsy (CP): A disorder of movement and posture that results from an insult to or anomaly of the immature central nervous system (CNS). This definition recognizes the central origin of the dysfunction, thus distinguishing it from neuropathies and myopathies. |
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What age is stranger anxiety seen?
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6-18months
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80% of childhood hearing impairment is caused by?
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genetic factors - most genes are Aut Rec inheritance
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In what stage of sleep do nightmares occur? night terrors?
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Nightmares = REM sleep
Night terrors = Stage 4 NON-REM sleep (90-120min after sleep onset) |
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Boy presents with acute or gradual onset of scrotal pain, tenderness at the upper pole of the testicle, and what's shown in the image above
Describe/ Dx/ Tx |
Blue-Dot Sign: on exam of the scrotum, the cyanotic testicular appendage is visible thru the skin of the scrotum
Dx: Torsion of testicular appendage (NOT the spermatic cord!) What it is: Small vestigial remnants in the embryology of the scrotum are often found on the superior portions of the testicle or the epididymis. These appendages, which have no known function, are occasionally on a stalk that is subject to torsion. This most commonly occurs in boys up to 16 years of age but has been reported in adults. The patient will complain of sudden pain around the superior pole of the testicle or epididymis as the appendix undergoes necrosis and inflammation. Early in the course, palpation of a firm, tender nodule in this area will confirm the diagnosis. Dx: Hx & PE findings. Doppler U/S and radionuclide scans are NORMAL or show increased flow/uptake. Tx: rest + analgesics. Pain usually resolves w/in 2-12 days. Surgery usually not necessary |
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soon after birth, a term newborn presents with increased oral secretions and mild respiratory distress - whats the likely dx?
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esophageal atresia / tracheoesophageal fistula
⬆ oral secretions result of the accumulation of saliva in the proximal esophageal pouch Respiratory distress may occur if the infant aspirates this saliva |
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An abdominal mass is detected on exam of a 2day old infant in the newborn nursery. What's the most likely cause of this mass?
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most likely something of renal origin, likely hydronephrosis
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Indirect (unconjugated) hyperbilirubinemia (jaundice) during the FIRST wk of life
Dx? explain pathophysiology |
Breastfeeding jaundice = 1st wk - usually related to suboptimal milk intake, which leads to weight loss, dehydration, and decreased passage of stool, with resultant decreased excretion of bilirubin in the stool
Breast milk jaundice = after the 1st wk - likely related to breast milk's high levels of β-glucuronidase & high lipase content. Elevated bilirubin is highest in the 2nd and 3rd weeks of life, and lower levels of bilirubin may persist until 10wks of life |
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In alkaptonuria, there is a deficiency of _____________ with proximal accumulation of __________, which turns __________ upon oxidation.
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deficiency of homogentisic oxidase = accumulate homogentisic acid = turns black
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This condition results in mental retardation, motor dysfunction, eczema, "mousy" odor, and fair skin
What's the defective gene? What accumulates? What molecules are deficient? |
Phenylketonuria (PKU)
defect in phenylalanine hydroxylase gene = accumulation of phenylalanine & its phenylketone derivates Lack of tyrosine products - melanin, catecholamines Tyrosine becomes essential in diet |
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This should be suspected in any newborn with hepatomegaly + hypoglycemia
Other clues: ● Vomiting, diarrhea, FTT - following formula or breastfeeding ● Cataracts with characteristic oil-droplet appearance ● renal tubular acidosis What's the diagnosis? What lab findings would you expect? What's the deficient enzyme? |
Galactosemia
enzyme defect = GALT [galactose-1-phosphate uridyltransferase] - cannot breakdown galactose, found in both cow's milk & breast milk Dx: (1) nonglucose-reducing substance in urine tested by a clinitest (the usual urine dipstick or Clinistix only tests for glucose & is inadequte for the detection of galactose) (2) confirmation of enzyme def in RBCs (3) Prenatal & newborn screening available Lab findings: hypoglycemia, ↑serum galactose, ↑RBC galactose-1-P levels, galactosuria, albuminuria, indirect hyperbilirubinemia jaundice due to premature destruction of RBCs (hemolysis) following accumulation of Gal-1-P in the RBCs Tx: galactose-free diet, such as soy or elemental formulas Prog: normal intelligence if early tx. nearly ALL females suffer from ovarian failure. |
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Why do infants with galactosemia tend to develop cataracts if left untreated?
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When galactose accumulates due to metabolic block, it enters an alterate rxn that is catalyzed by aldose reductase - leading to production of sugar alcohol galactitol - leads to increased osmolarity, resulting in cataract formation as water is drawn into lens tissue
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what is the treatment of classic galactosemia?
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eliminate all galactose-containing compounds, including lactose (milk & dairy products)
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After introduction of fruit juice:
● severe hypOglycemia ● vomiting, diarrhea, FTT ● seizures Whats the dx/ management? |
Essential fructosuria = defect in fructokinase - asymptomatic, benign (fructose doesn't enter cells) - will see fructose in blood & urine
Fructose intolerase = deficiency of aldolase B - Aut Rec - Fructose-1-P accumulates, get S/S listed - to tx, decrease intake of BOTH sucrose & fructose (& sorbitol) |
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● Marfinoid body habitus w/o arachnodactyly
● Lens subluxation ● Hypercoagulable state (risk of stroke, myocardial infarction, deep vein thrombosis) ● Cardiovascular abnormalities ie mitral or aortic regurgitation. Aortic dilation is absent ● Scoliosis and large, stiff joints ● developmental delay, mild mental retardation Whats the dx/ how to confirm/ tx? |
Dx: Homocystinuria
enzyme defect: Cystathionine synthase Accumulated substrates: Homocysteine and methionine (can do a urine or plasma screen) Tx: ● methionine-restricted diet ● aspirin to ↓ risk of thromboembolism ● folic acid ● Vit B6 supplementation |
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age of 15 months, at which time he had developmental delay, hepatomegaly, and skeletal involvement. At the time of the picture, the patient had short stature, an enlarged tongue, persistent nasal discharge, stiff joints, and hydrocephalus. Verbal language skills consisted of four to five words. The patient had a severe hearing loss and wore hearing aids.
coarse facial features + short neck is characteristic of what disorder(s)? |
mucopolysaccharidoses - Hurler & Hunter's - lysosomal storage disorders in which substrates that accumulate in the lysosomes are extracellular matrix molecules (GAGs, aka mucopolysaccharides - heparan sulfate & dermatan sulfate)
(Both pics are children with Hurler's) They differ in that: Hunter's is X-linked Hurler's is assoc with corneal clouding, and overall more severe |
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Presentation:
● hepatosplenomegaly ● thrombocytopenia ● erlenmeyer flask-shape to distal femur Whats the dx? |
Dx: Gaucher's disease, a type of lysosomal storage disorder
Enzyme def: glucocerebrosidase Gaucher cells = have crinkled tissue paper look to the cytoplasm THINK: "Grouch for Gaucher, in the trash full of crinkled tissue paper & his bones are hurting from sitting in the trash can" Prog: mortality by 4 yrs if symptoms begin in infancy. management includes enzyme replacement therapy The bony abnormalities are considered to be related to the numerous lipid-laden macrophages (Gaucher cells) in the bone marrow, but the mechanism of bone deformation and destruction in this disease remains unclear. |
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Presents by 6 mos of age with:
● progressive neurodegeneration ● ataxia ● seizures ● hepatosplenomegaly ● cherry-red macula Whats the likely dx/ prog? |
Dx: Niemann Pick disease, a type of lysosomal storage disease
Enzyme def: sphingomyelinase Prog: Death occurs by 4 yrs of age |
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At 6 mos would not sit up. Four months passed, and similar milestones seemed to slip away. She wouldn’t roll over. She wouldn’t play with her toys. She still wouldn’t sit up.
Symptoms progressively worsened. Loud noises inexplicably startled her. An inability to coordinate muscle movement between her mouth and tongue caused her to choke on food and produce excessive saliva. Most likely dx? |
Dx: Tay-Sachs disease - Aut Rec, heXosaminidase A deficiency
Presentation: ● decreasing eye contact ● hypotonia ● mild motor weakness ● increased startle as a result of HYPERACUSIS (increased sensitivity to sound) ● macrocephaly ● cherry-red macula ● progressive blindness, seizures, severe developmental delay Dx based on ⬇ heXoaminidase A activity in leukocytes or fibroblasts Prognosis: infantile disease is untreatable, death by 4 yrs |
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An infant with hypoglycemic seizures + micropenis + short stature
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think HYPOPITUITARISM = GH deficiency + deficiency of other pituitary hormones
micropenis due to LH def, as LH stimulates testosterone production from testes during last trimester of pregnancy causing lengthening of penis Prolonged jaundice may be present, due to assoc central (hypopituitary or pituitary) hypothyroidism. ACTH → adrenal glucocorticoids TSH → TH LH & FSH → gonadal function GH → growth ADH → diabetes insipidus Etiology: can be inherited, developmental defects, or acquired (ie Craniopharyngioma) |
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7 yr old boy has only grown 1 inch in the past yr, height has dropped from 75th to 40th percentile. Parents are tall. Has been complaining of headaches + vomiting in the morning recently.
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Craniopharyngioma is the most common type of hypothalamic-pituitary tumor leading to delay or absence of pubertal development. This neoplasm originates in Rathke pouch but may develop into a suprasellar tumor.
The peak age incidence of craniopharyngioma is between 6 and 14 years. Presenting symptoms may include headache, visual deficiency, growth failure, polyuria, and polydipsia; presenting signs may include visual defects (bitemporal hemianopsia is classic), optic atrophy, or papilledema. Bone age is often retarded at the time of presentation. Calcification in the suprasellar region is the hallmark of craniopharyngiomas; 80% of cases have calcifications on lateral skull x-ray, and a higher percentage show this on computed tomography (CT); however, calcifications cannot be seen on magnetic resonance imaging (MRI). |
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Baby presents with hx of prolonged jaundice, poor feeding, lethargy, constipation, large fontanelles, umbilical hernia, hypothermia, mottled skin & poor growth, protruding tongue
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Diagnosis: Hypothyroidism
Laboratory tests: TSH (will have ↑TSH on newborn screening test) and low free T4 Treatment: Thyroid hormone replacement with levothyroxine |
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13mo F has a several month hx of breast growth with Tanner stage 2 breast development on exam, but has no pubic hair. Her growth consistently follows 75% growth curve
Dx? |
Premature Thelarche
Def: visible or palpable breast tissue only, with no other secondary sex characteristics. Very common & benign condition usually presents in first 2 yrs of life caused by transient activation of Hypo-Pit-Gonad Axis, resulting in transient ovarian follicle stimulation & release of low levels of estrogen. no workup or treatment is needed (unless there is public hair development or rapid growth spurt) |
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7 yr boy presents with pubic hair, acne & rapid growth
His bone age is advanced to that of a 10yr boy. Testicular exam shows prepubertal size testes |
Peripheral precocious puberty (PPP)
Def: puberty independent of the Hypo-Pit-Gonad Axis. (ie caused by peripheral production of sex steroids, not FSH/LH mediated) - the hallmark of PPP is a flat response on GnRH stimulation testing b/c the HPGA has not been activated NO testicular enlargement Etiologies: adrenal tumors, leydig cell tumors (asymmetric testicles), CAH, β-hCG-producing tumor, McCune-albright syndrome, familial testotoxicosis |
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5 yo F has a 1 yr history of breast development & pubic hair. She is tanner stage 3 on breast exam & Tanner Stage 2 on pubic hair exam. Today she had her first menses. Bone age determination reveals her bone appearance is 5yrs advanced, to that of a 10yr old girl.
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Central Precocious Puberty
Def: early onset of gonadotropin mediated (ie by FSH/LH) puberty is a normal state, except that the hypothalamus has been activated earlier than usual more common in girls in girls, most cases are idiopathic in boys, ALWAYS need to do an MRI Dx: ↑FSH/LH, ↑sex steroids GNRH stimulation test: when GnRH given, there is a dramatic increase in LH |
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5 yo F is referred for vaginal bleeding. PE shows breast development, multiple cafe-au-lait spots, and thyromegaly, and cystic bony changes are apparent on xray of her legs.
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Peripheral precocious puberty (PPP), McCune-Albright Syndrome
McCune-Albright syndrome (MAS) 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, the most common form of which is GnRH secretion and subsequent precocious puberty. Although changes in ovary, bone, and skin tissue are most common, other endocrine and nonendocrine tissues also may be affected, including the adrenal, thyroid, pituitary, liver, and heart. The fibrous dysplasia seen in children, MAS most commonly affects the long bones, ribs, and skull. The lesions range in size from small asymptomatic areas to markedly disfiguring lesions that can result in pathologic fractures. The café-au-lait spots in children with MAS are large melanotic macules with irregular outline, described as "coast of Maine" Vaginal bleeding occurs early and in most is the first sign of puberty. The diagnosis is made on the basis of skin pigmentation and demonstration of bone lesions or pathologic fractures. The exact cause is unknown, but a primary ovarian abnormality with premature estrogen production has been suggested. The prognosis for children with MAS is unfavorable. Adult height is significantly reduced, not only because of early epiphyseal closure but also because of pathologic bone fractures. Multiple endocrinopathies often exist as well. As in adults, most patients have menstrual abnormalities and many are infertile. |
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4yo THIN boy with a fever and vomiting when to sleep without dinner and has a hypoglycemic seizure at 8am
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Dx: Ketotic hypoglycemia
The most common cause of hypoglycemia in children 1-6 yrs of age Def: hypoglycemia occurring late in the morning in the presence of ketonuria & a low insulin level This appears to be an inability to adapt to a fasting state - typically these kids are thin & become hypoglycemic after intercurrent infection |
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A male newborn has a glucose of 15mg/dL (LOW) at 6 hrs of age. PE reveals a cleft palate, microphallus, and undescended testes
Dx? |
Hypopituitarism - GH & cortisol deficiencies
**should always be suspected in newborn with hypoglycemia, microphallus & midline defects such as cleft palate |
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A large for gestational age infant has hepatomegaly, macroglossia, moderate umbilical hernia and hypoglycemia
Dx? |
Beckwith-Wiedemann Syndrome = Aut Dom Genetic syndrome
image: Characteristic macroglossia in a 4-month-old male infant with Beckwith-Wiedemann syndrome. The diagnosis was made soon after birth on the basis of the clinical findings of macrosomia, macroglossia, omphalocele, a subtle ear crease on the right, and neonatal hypoglycemia. |
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Fill out this CSF analysis, thinking:
Whats the normal values? Who "eats up" the sugar (glucose)? Who increasing the protein? Any special instructions for the lab to culture? |
Normal = clear & colorless, 0-5 WBCs (lymphos or monos), <50 Protein, 50-75 Glucose
Bacteria, Fungus & TB eat sugar (↓ glucose) - VIRUSES DO NOT Bacteria ↑ protein the most, but viruses, fungus & TB can all ↑ protein a little too Realize bacterial should have a (+) culture, but to catch virus, need to do PCR & if thinking fungal, need to do india ink stain |
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Fever (>100.4 or 38C) in an infant less than 28 days:
What is the appropriate workup, tx? If meningitis, what are the likely organisms? If baby is presents with apnea, cutaneous vesicles & seizures, what tx is necessary? |
Workup: (1) Blood, Urine & CSF cultures
(2) give empiric IV antibiotics (AMPICILLIN + AMINOGLYCOSIDE or 2rd GEN CEPH) - IV ACYCLOVIR for possible HSV, if presenting with apnea, seizures, cutaneous vesicles (3) hospitalization Organisms: GBS, E. Coli, Listeria monocytogenes |
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6yo F sent home from summer camp with fever (101.3F, 38.5C), stiff neck, photophobia & headache.
LP shows: WBC 380cells/mm3 with 65% PMNs, 35% lymphocytes normal protein, normal glucose negative gram stain What is the most likely pathogen? |
Enterovirus- the most common cause of viral meningitis & most often occur during summer & fall
Note: early on in infection, viruses can show PMNs in CSF then shifts to lymphocytes in 24-48hrs |
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Previously healthy 18mo girl is admitted for fever (T102.8F, 39.3C), vomiting + lethargy.
She was well until 2 days ago, when she was dx with URI. LP shows: WBC 3.050 cells/mm3, 98% PMNs, very low glucose & elevated protein Gram stain = Gram (+) diplococci Whats the most likely organism & whats the best tx? |
Dx: bacterial meningitis, strep pneumonia
Tx: 3rd Gen Ceph + Vancomycin (to cover pneumococcus resistant strains) |
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Describe/ dx/ tx
What other PE finding is important to look for? Finishing the ABX is important to prevent what sequelae? |
Presentation: 8yo M presents with sore throat, fever + a rough sandpaper-like rash over trunk & extremities.
Rash: begins on trunk & moves out. Skin is erythematous, with tiny skin-colored papules (scarlatiniform appearance) and has the texture of sandpaper (sandpaper rash). The rash blanches with pressure. LOOK FOR STRAWBERRY TONGUE! Throat cx: (+) for Group A, β-hemolytic strep (strep pharyngitis) Tx: oral penicillin, or IM PCN-G (if allergic, erythromycin or macrolides) need to complete ABX to prevent Rheumatic Fever (JONES) - abx does NOT prevent glomerulonephritis or arthritis |
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5yr boy is admitted with a fever of unknown origin. An abdominal CT scan reveals a large hepatic abscess
Whats the likely organism? |
Entamoeba histolytica (amebiasis)
transmitted by ingestion of the cyst in contaminated food or water Dx: trophozoites or cysts in stool Tx: Metronidazole (can also add Iodoquinol, a luminal amebicide) |
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3yr boy presents ith an acute onset of high fevers, bloody diarrhea & generalized tonic-clonic seizures. The stool Wright stain reveals sheets of WBCs
Whats the likely dx? |
Shigella - NOTE BLOODY DIARRHEA predominates
Seizures are related to release of neurotoxin Tx: 3rd Gen Ceph or Fluroquinolones |
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8yr girl presents with 1week hx of diarrhea and low grade fever. The family reports that they have recently acquired a pet turtle.
What is likely causing her diarrhea & whats the tx? |
Salmonella = "the salmon"
many animals carry salmonella, (picture a salmon) in the US there was even an epidemic of salmonellosis from pet turtles. Today in the US, salmonella is most commonly acquired from eating chickens and uncooked eggs. Salmonella typhi is an exception as it is NOT zoonotic – it is ONLY carried by humans Tx: not indicated for uncomplicated gastroenteritis in immunocompetent hosts >3mos b/c it increased carriage time. Tx for invasive disease includes 3rd Gen Ceph Note: In sickle cell pts, can lead to bacteremia or osteomyelities |
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10 yr boy is admitted to the hospital and taken directly to the OR for suspected acute appendicitis. Surgeons uncover a normal appendix but enlarged mesenteric lymph nodes
Whats the likely organism? |
Yersinia enterocolitica - can cause mesenteric adenitis that causes pain mimicking appendicitis
tx: 3rd Gen Ceph |
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2 HOUR old newborn who has suddenly become cyanotic in the nursery. O2 Sat on room air is 69% and the baby is tachycardic & tachypneic. Oxygen doesn't improve O2 sat.
PE: loud S2, no murmur Chest Xray: ↑ pulmonary markings, narrow mediastinum, small heart Whats the dx, and next steps in management? |
Dx: Transposition of the Great Arteries (TGA)
Tx: Prostaglandin E1 (keep PDA open) |
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7 yr boy presents with 3-day hx of fever (Tmax 103.5), SOB + weakness
He also c/o chest pain, which is most intense when he lies down and improved when he sits upright His PMHx is significant for closure of a VSD 2 weeks ago. What's the dx & what specific findings are you checking for on the PE? |
Dx: pericarditis (Postpericardiotomy syndrome)
check for: ● Pulsus Paradoxus - >10mmHg drop in SBP on deep inspiration ● pericardial friction rub ● distant heart sounds ● hepatomegaly etiology: cause is unknown, thought to be an autoimmune response to a concomitant viral infection tx: anti-inflammatory agents (aspirin, steroids), may need to drain periardial effusion if severe |
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A thin 5yr boy presents for a routine checkup. On exam, you hear a continuous mumur below the right mid-clavicle. The murmur is loudest while the patient is sitting and disappears when he is supine. The femoral pulses are normal. What's the dx?
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Venous hum
Characteristics: ● can be heard any age, but esp with school age kids ● location = neck & below the clavicles ● continuous murmur ● heard ONLY while sitting or standing ● disappears if supine; changes with compression of the jugular vein or with neck flexion or extension |
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What is the associated heart rhythm abnormality for a female baby born to a mother with systemic lupus erythematous?
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3rd degree heart block
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A 5yo boy has an EKG that demonstrates a slurred upstroke of the QRS complex
Whats the rhythm abnormality? |
Wolff-Parkinson White (WPW) syndrome is a form of supraventricular tachycardia that is identified by the presence of a delta wave (slurred upslope of the QRS complex)
SVT is the most common dysrhythmia in childhood note: WPW is assoc with sudden cardiac death S/S: palpitations, chest pain, dyspnea, and sometimes - altered level of consciousness Management: Vagal maneuvers (such as Valsalva), ice pack to the face, unilateral carotid massage, placing the child upside down, and orbital pressure in older children may all convert SVT into a sinus rhythm IV adenosine - for acute conersion synchronized cardioversion |
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a male newborn has cyanosis & no heart murmur on auscultation
What congenital heart lesion might he have? |
Transposition of the Great vessels
presents with no murmur + single S2 on auscultation |
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when a 4 yr old boy with cyanosis squats, his cyanosis improves
What congenital heart disease do you suspect? |
Tetralogy of Fallot
Squatting, or knee to chest positioning, increases systemic vascular resistance, which decreases the R-L shunt thru the VSD |
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A male newborn with cyanosis has an EKG that demonstrates left ventricular hypertrophy
what congenital heart disease do you suspect? |
Tricuspid atresia with ventricular septal defect
Note: Tricuspid atresia is the only cyanotic congenital heart lesion that manifests LVH on EKG in the newborn period |
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An 8 yr old boy has a chest xray that shows cardiomegaly with the appearance shown above
What do you suspect? |
"snowman" appearance = unrepaired total anomalous pulmonary venous connection with supracardiac drainage (cardiomegaly)
management: treatment is surgical repair shortly after dx; the pulm veins are anastomosed to the back of the left atrium, and the PFO or ASD is closed |
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high fever + toxic appearance
muffled speech & quiet stridor dysphagia with drooling sitting forward, with neck extension Whats the dx? management? |
Epiglottitis -
before vaccinations, infection with H. influenza type B (HiB) was most common cause Group A β-hemolytic strep, strep pneumonia, and staph can also cause epiglottitis Neck XRAY: "thumbprint sign" tx: medical emergency - needs to be intubated (epi will not help situation) & avoid causing distress (DO NOT USE tongue depressor) Rifsmpin for HiB, otherwise 2nd or 3rd Gen Ceph |
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An adolescent presents with a 14day hx of multiple oval lesions over his back. The rash began with a single lesion over the lower abdomen; the other lesions developed over the next days. These lesions are slightly pruritic. What's the likely diagnosis?
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Pityriasis Rosea
benign condition that presents with herald patch, a single round or oval lesion appearing anywhere on the body. usually ~5-10 days later a more diffuse rash involving upper extremities & trunk appears. These lesions are oval or round, slightly raised, and pink to brown in color. The lesion is covered in a fine scale with some central clearing possible. The rash can appear in a Christmas tree pattern on the back, identified by aligning of the long axis of the lesions with the cutaneous cleavage lines. Tx: usually unnecessary, but can consist of topical emollients and oral antihistamines as needed |
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1week infant has transient rash, characterized by splotchy areas of erythema with a central clear pustule. Microscope exam of the liquid in the pustule reveals eosinophils
Dx? |
Dx: Erythema toxicum neonatorum
a benign, self-limited eruption of unknown etiology that occurs in up to 70% of term newborns characterized by discrete, small, erythematous macules or patches up to 2 to 3 cm in diameter with 1- to 3-mm firm pale yellow or white papules or pustules in the center. The trunk is predominantly involved. This rash usually presents within the first 24 to 72 hours of life. The distinctive feature of erythema toxicum is its evanescence or disappearance with each individual lesion usually disappearing within 2 or 3 days. New lesions may occur during the first 2 weeks of life. The neonate should appear well and lack any systemic signs of illness other than occasional peripheral eosinophilia. Wright-stained slide preparations of the scraping from the center of the lesion demonstrate numerous eosinophils The lesions may present anywhere on the body but tend to spare the palms and soles. Laboratory evaluation is usually unnecessary. |
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A teenage boy c/o a splotchy red rash on the nape of his neck, discovered when he had his head shaved for football season. The rash seems to become more prominent with exercise or emotion. His mother notes that he has had the rash since infancy, but that it became invisible as hair grew. He had a similar rash on his eyelids that resolved in the newborn period
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Salmon Patch aka nevus simplex or flameus
flat vascular lesions that occur in the listed regions and appear more prominent during crying. The lesions on the face fade over the first weeks of life. Lesions found on the nuchal and occipital areas often persist. No therapy is indicated |
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A newborn's mother complains that her infant seems to have very small white dots all over his nose. The dots do not wipe off with bathing, but they are also not erythematous
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Milia
fine, yellowish-white 1 to 2 mm lesions scattered over the face and gingivae of the neonate. They are cysts that contain keratinized material. Commonly these lesions resolve spontaneously without therapy. When on the palate, called Epstein pearls |
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6yr old returns from playing all day in the snow with several erythematous, ulcerative lesions on his fingertips; he complains the lesions are painful and itchy
Dx? |
Chilblains
localized inflammatory lesions caused by continued exposure to cold above the freezing point. Lesions may last 1-2weeks |
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A teen, just back from a skiing trip, has blistering and peeling of several areas of her face; she reports the lesions started as a firm, cold, white areas that felt stinging at the time and are now more sensitive than the surrounding skin
Is this frostbite? |
No, it is frostnip
First-degree injury (frostnip) is characterized by partial skin freezing, erythema, mild edema, lack of blisters, and occasional skin desquamation several days later. The patient may complain of stinging and burning, followed by throbbing. Prognosis is excellent. Second-degree injury is characterized by full-thickness skin freezing, formation of substantial edema over 3 to 4 hours, erythema, and formation of clear blisters filled with fluid rich in thromboxane and prostaglandins. The blisters form within 6 to 24 hours, extend to the end of the digit, and usually desquamate and form hard black eschars over several days. The patient complains of numbness, followed later by aching and throbbing. Prognosis is good. |
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Infant presents during the winter with an area of erythematous, firm, and slightly swollen skin at the corner of her mouth and extending to her cheek. The area is not tender and the infant is afebrile
Dx? |
Cold ("popsicle") Panniculitis
Cold panniculitis represents acute cold injury to the subcutaneous fat. It manifests as erythematous, indurated plaques on exposed skin, especially the perioral areas and cheeks. Lesions appear 24 to 72 hours after exposure to cold and gradually soften and return to normal over 1 to 2 weeks usually without permanent sequelae. This phenomenon is caused by subcutaneous fat solidification and necrosis when exposed to low temperature. It is much more common in infants. Because these lesions may also be painful, the differentiation of cold panniculitis from cellulitis may be difficult. The absence of systemic symptoms, especially fever, and the history of cold exposure are very suggestive of cold panniculitis. |
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Photophobia, blurred vision, burning & itching of eyes, poor growth, cheilosis
Whats the likely deficiency? |
Riboflavin (B2) deficiency
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6yo boy c/o severe pain in right hip & refuses to walk for past 2 days. T102.7 WBC ct 19,000 & ESR is 55mm at one hour. On exam, he keeps his right hip externally rotated, and cries out in pain on any mvmt involving the right hip. Joint aspiration reveals a turbid fluid with total WBC: 90,000 and numerous bacteria. What is the most appropriate management in this patient?
What are the most common organisms? |
Emergency surgical debridement - a delay of even 4-6 hrs can lead to avascular necrosis of the femoral head
mc organisms: staph aureus & steptococcus clues: severe pain (refusal to walk), external rotation (this position allows for maximal pus accumulation), leukocytosis & elevated ESR Ultrasound guided aspiration of synovial fluid should be done first to confirm septic arthritis. xrays are often normal. Empiric ABX should be started (antistaphylococcal = nafcillin or vancomycin) and maybe 3rd gen ceph Note pics show: Septic arthritis of the hip in a 2-year-old boy. A: Lateral radiograph shows signs of proximal femoral osteomyelitis. B: T2-weighted MRI showing large effusion in the hip joint and edema of the proximal femur. |
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2 yr old boy is brought to the ER for the evaluation of a cough + low grade fever. He has had 10 such infxns over the past year, all of which required antibiotics. He was delivered vaginally w/o any complications. He is an only child. His mother's siblings have a hx or similar infections. He is alert & has normal vital signs, except for a mild fever. Ausculation reveals rales + rhonchi in both lungs. The chest xray is shown above
What is the most likely dx? |
Kartagener's syndrome
Classic triad: situs inversus, recurrent sinusitis, bronchiectasis Xray: dextrocardia (the apex of the heart is in the right chest) Aut Rec disorder, due to dysmotile cilia. The aberrant production or attachment of dynein arms can frequently be verified on EM, and results in impaired cilial function, poor clearance of secretions, and consequent secondary infxns note: don't confuse w/ Kallman's syndrome (x-linked, hypogonadotropic hypogonadism assoc with asnosmia, cleft lip/palate, and other midline defects) |
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6mo boy brought to office due to fussiness & tugging at his right ear for the past 2 days. He has had a fever (T103, 39.4) for 2 days. His PMHx is significant for recurrent ear + lung infxns, oral candidiasis, and persistent diarrhea by rotavirus. PE reveals an erythematous, bulging right TM with poor mobility on pneumatic otoscopy. His lymph nodes are not palpable, and his tonsils are not visualized. His B & T cells are markedly reduced. The CXR reveals an absent thymic shadow. What is the dx?
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Severe combined immunodeficiency (SCID)
adenosine deaminase deficiency (adenine toxic to B & T cells) S/S: recurrent sinopulmonary infxns, oral thrush, persistent diarrhea, opportunistic infection & viral infections Dx is confirmed by clinical features: absent lymph nodes & tonsils, lymphopenia, absent thymic shadow on CXR, and abnormal B/T/NK cells by flow cytometry Tx: gene therapy, bone marrow transplant (pts with SCID do not reject allografts) |
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14 yo boy comes to the office b/c he feels a mass under his right nipple for the last 3 wks. PE reveals clinical findings suggestive of right gynecomastia with very mild tenderness. The left breast and the rest of the PE is unremarkable. His testis is 2cm in length and has 3mL volume. What is the most appropriate next step in management?
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Reassurance
Gynecomastic is benign proliferastion of glandular tissue of the male breast. Pts present with a rubbery or firm mass extending concentrically from the nipple. Can be physiological (neonatal, adolescent/pubertal and gynecomastia or aging) or pathological (secondary to drugs, endocrine disorders, tumors, etc) Pubertal gynecomastia is seen in 1/2 of adolescent boys ~14 yrs. Breast growth is mediated by estrogen & results from a decrease in the ratio of active androgen to estrogen. In males, estrogen is synthesized by the peripheral conversion of androgen to estrogen, thus the onset of gynecomastia in adolescents correlates with an increase in adrenal androgens at adrenarche. Typically transient - watchful waiting with reevaluation is reasonable in most cases, esp those w/o substantial pain or tenderness |
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6yo boy brought to office b/c of "inattentiveness". He mom reports he ignores her & continues to do w/e he is engaged in. She has difficulty disciplining him at home, but reports he is otherwise happy & affectionate child. His teacher freq complains about him, stating that he "has trouble folllowing directions & just doesn't listen". He rarely completes his classroom assignments on time. He has limited language skills compared to his peers and ususally prefers to play alone. What's the likely dx?
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undetected hearing impairment
mcc: conductive hearing loss due to repeated ear infections often these kids suffer from poor self-esteem and isolate themselves hearing tests should be routinely conducted in all kids with any behavioral concerns |
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12yo M brought to office b/c of several month hx of back pain. He also experienced bed wetting recently. His PMHx is insignificant. He tried acetominophen for pain relief. He doesn't smoke or consume alcohol. His Temp is 98F. PE reveals a palpable "step off" at the lumbosacral area. Straight leg raising test is neg on both sides. Perianal sensation tested by pinprick is decreased, but anal reflex is normal. What is the most probably dx in this patient?
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Spondylolisthesis - a developmental disorder characterized by forward slip of vertebrae (usually L5 over S1) that usually manifests in preadolescent children
in the typical clinical scenaria: back pain, neurologic dysfunction (ie urinary incontinence), and a palpable "step off" at the lumbosacral area are present if the disease is severe |
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An afebrile, obese 14 yr old boy has developed pain at the right knee and a limp
What dx do you suspect? |
Slipped capital femoral epiphysis
disease of unknown etiology & occurs typically in teens; the disorder is most common among obese boys with delayed maturation or in thin, tall adolescents having recently enjoyed a growth spurt onset is freq gradual; pain is referred to the knee in 20% of cases Dx: AP and frog leg lateral xrays of both hips - will see ice cream scoop (epipysis) falling out of its cone earliest sign is widening of the epiphysis Tx: consult ortho, removal of weight bearing from affected limb (crutches, wheelchair), internal fixation using central percutaneous pin fixation with one or more screws is treatment of choice |
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6 yr boy has developed a limp and has limited mobility of the hip, but denies pain and fever
whats the most likely dx? |
Legg-Calve-Perthes disease is avascular necrosis or idiopathic osteonecrosis of the femoral head; the cause of this disorder is unknown
boys btw 2-12yrs are most freq affected with a mean of 6-7 yrs old. S/S: limp + pain in the anterior thigh, groin, or knee, although classic symptoms include a painless limp, limited hip motion (particularly abduction & medial rotation) Dx: AP & frog-leg lateral xrays (see effusion of the joint, widening of the joint space, decreased bone density around the joint, collapse of the femoral head) Tx: ortho consult, protect joint, abduction orthoses, rest & NSAIDs, surgery if large areas of necrosis |
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Over past several wks, 2yr girl has exhibited developmental regression, abnormal sleep patterns, anorexia, irritability, and decreased activity/ These symptoms have progressed to acute encephalopathy with vomiting, ataxia, and variable consequences. The family recently moved, and they are in the process of restoring the interior of their home
What is the cause of these symptoms, what is the tx? |
Lead poisoning
Tx: Dimercaptosuccinic acid (DMSA, dimercaprol, succimer) pts with really high levels should be given calcium EDTA too |
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16 yr old took "some pills" after a fight with her bf. At presentation she is alert & c/o emesis, diaphoresis, and malaise. Her initial liver function tests, obtained about 12hrs after ingestion are elevated. Repeat levels at 24hrs show markedly elevated AST & ALT, along with abnormal coagulation studies and elevated bilirubin
What pills did she ingest, and what is the tx? |
likely acetominophen OD, give N-acetylcysteine; should be given w/in 16 hrs of ingestion
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You are called to the delivery room. A newborn infant seems lethargic and has poor tone with only marginal respiratory effort, but his HR is >100beats/min. Could pain medication that the mother received during labor cause this?
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morphine or other narcotics can suppress ventilation
naloxone is a specific antidote and can be rapidly effective |
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Which GI abnormality is assoc with a birth hx of polyhydramnios?
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Duodenal atresia - develops b/c of failure of the intestinal lumen to recanalize early in gestation.
as a result, the fetus is unable to swallow significant amts of amniotic fluid, and this may lead to polyhydramnios. |
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a previously healthy 9mo girl is brought to the ER with an 15hr hx of intermittent, inconsolable crying interspersed with periods of lethargy. She has vomited twice and has had one bowel mvmt that the mother describes as bloody. Based on clinical presentation, what is the most appropriate diagnostic procedure?
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barium enema!
Suspect intussusception with colicky abd pain, vomiting, lethargy, and bloody stools Barium enema is both diagnostic & Therapeutic - the pressure from the constrast can sometimes reduce the intussusception |
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3 yr old boy is brought to the office by his parents who are concerned b/c he has hard, painful stools. For the past 4 months, their son defecates every 3-4days and cries during stooling. The resulting stool is very hard. PE of the child is normal.
What is a likely cause? |
Likely to be functional constipation (ie inappropriate purposeful constriction of the external anal sphincter), resulting from a traumatic triggering event such as severe, painful diaper rash or painful diarrhea or even physical or sexual abuse
Tx: stool evacuation using mineral oil, enemas, or other modalities diet changes= increase fiber, water & juice |
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10 yr boy has been having "belly aches" for about 2 yrs. They occur at night as well as during the day. Occasionally, he vomits after the onset of pain. Occult blood has been found in his stool. His father also gets frequent, nonspecific stomachaches.
dx? |
peptic ulcers (h. pylori)
nocturnal abd pain + GI bleeding + family hx = peptic ulcer disease dx: endoscopy |
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Vegans are at risk for what deficiencies?
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Vit B12
iron deficiency Vit D |
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10 yr boy has been having "belly aches" for about 2 yrs. They occur at night as well as during the day. Occasionally, he vomits after the onset of pain. Occult blood has been found in his stool. His father also gets frequent, nonspecific stomachaches.
dx? |
peptic ulcers (h. pylori)
nocturnal abd pain + GI bleeding + family hx = peptic ulcer disease dx: endoscopy |
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Vegans are at risk for what deficiencies?
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Vit B12
iron deficiency Vit D |
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2 yr old presents to the ER with several days of rectal bleeding. MOther first noticed reddish colored stools 2 days prior to arrival and has since changed several diapers with just blood. THe child is febrile, alert, and playful, and is eating well without emesis. He is slightly tachycardic, and his abdominal exam is normal. Whats the best diagnostic test to confirm the diagnosis?
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Radionucleotide scan
Dx: Meckel Diverticulum: ectopic gastric mucosa the test: 99mmTc-pertechnetate scan detects presence of gastric mucosa – accumulation of pertechnetate in RLQ is diagnostic of a Meckel diverticulum that contains ectopic gastric mucosa – produces acid, cause of ulceration & bleeding - common presentation = lower GI bleeding [melena] - can also cause RLQ pain - occurs due to failure of obliteration of the omphalomesenteric duct |
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5 yr old boy with thrombocytopenia, moderate eczema, and both humoral & cell-mediated immunodeficiency
Dx? |
Wiskott-Aldrick syndrome
• WAITER - Wiskott- - Aldrich - Immunodeficiency - Thrombocytopenia - Eczema - Recurrent pyogenic infections |
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6 yr boy with prolonged diarrhea lasting 2 weeks develops hemarthrosis involving the knee. He has a prolonged activated partial prothrombin time with a normal bleeding time.
Dx? |
Vit K deficiency, which can occur with pancreatic insufficiency, biliary obstruction, and prolonged diarrhea
deficiency affects coagulation factors (2,7,9,10) and therefore results in prolonged PT & PTT and normal bleeding times. |
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5 yr old boy presents with a hemarthrosis involving the knee. He has a normal PT, prolonged PTT and normal bleeding time
Dx? |
Hemophilia B (Factor 9 Deficiency)
tx: Factor 9 replacement |
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What coagulation factor is deficient in Hemophilia A? What factor is deficient in Hemophilia B?
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-“EIGHT" :
-Hemophilia A = Factor EIGHT (VIII) deficiency -“BeNIGN” -Hemophilia B = Factor NINE (IX) |
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8 yr boy develops severe bleeding following tonsillectomy. He has a normal PT, prolonged PTT and prolonged bleeding time
Dx? |
von willebrand's disease
Ristocetin test is the best diagnostic test • Von Willebrand’s factor: - Basics: several subunits linked by disulfide bonds, synthesized by endothelial cells & megakaryocytes - Major functions: - Complexes with & stabilizes Factor 8 = ↑ PTT - Platelet adhesion to vessel wall & to other platelets = ↑ bleeding time |
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3 yo boy brought into the office by his mother b/c he has been having PAINLESS passage of BLACK STOOLS for the past few days. Otherwise, his bowel habits are normal. He has no other medical problems. He takes no medications. His vital signs are within normal limits. PE is unremarkable. What is the likely dx?
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Meckel's diverticulum - persistence of omphalomesenteric (vitelline) duct (should disappear by 7th wk of gestation) – heterotropic gastric tissue may be present in the diverticulum, which results in ulcerations and bleeding
S/S: painless melena in 2/3 yo Rule of 2’s: - 2% of population - 2 inches long - 2 feet from the ileocecal valve - pt usually < 2 yrs old - 2% are symptomatic dx: technetium-99m pertechnetate scanning (uptake by heterotopic gastric mucosa) tx: surgical resection with transverse closure of the enterotomy |
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Failure to thrive
is a clue for which particular immunodeficiency? |
Severe combined immunodeficiency (SCID)
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absence of tonsils & lymphatic nodes is a clue for which immunodeficiency?
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Bruton agammaglobulinemia
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coarse facial features, eczema, lax joints, scoliosis
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Job syndrome
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sinopulmonary & soft tissue infections vs
sinopulmonary & GI infections leads you to think of which immunodeficiencies? |
sinus + soft tissues = phagocyte dysfunction - think chronic granlomatous disease (CGD)
sinus + GI = immunoglobulin deficiencies (Bruton's agammaglobulinemia/ selective IgA def/ CVID) |
