a 20 yo male presents with antiglomerular basement membrane disease.
On renal biopsy, what will be seen deposited in the glomerular basement membrane?
IgG and C3
What is the most common childhood malignancy?
ALL
A patient presents with knee pain and swelling. The valgus stress test shows medial instability.
What is the diagnosis?
MCL injury
- cry whenever his mother leaves him with an unfamiliar person.
- Smiles when he looks in a mirror and often babbles, but with no discernible words.
- Can track an object to 180 deg
- Visually tracks an object through a fall and searches for a partially hidden toy.
How old is this infant?
6 months
An infant is normal at birth, but by the 3-5 days of life, begins to have feeding difficulties, irregular respirations, and loss of the Moro reflex. She has a severe seizure prompting the family to bring her in. You note a sweet smell from the child.
What is the most likely diagnosis?
MSUD
You start an aminoglycoside in a child. On day 8, his creatinine rises and his FENA is not low.
What is the mechanism by which the aminoglycoside likely caused AKI?
Acute tubular necrosis
What major side effect do you worry about with use of doxorubicin?
Cardiomyopathy
A 12 yo boy is a pitcher for a junior league baseball team. For the past 2 weeks, he has complained to his parents of right elbow pain especially after pitching. PE: no swelling, + pain to palpation of the right medial epicondyle, worsened with resisted wrist flexion and valgus testing of the right elbow. Xrays of the right elbow are negative for any fx or dislocation.
What is the. sports-related injury in this case?
Medial elbow apophysitis (little league elbow)
A young child:
- has a vocabulary of 50-100 words
- uses 2-word sentences
- is able to identify 6 body parts
- Has just started to use personal pronouns, does not yet use prepositions
- Parallel plays
- Not able to button large buttons
How old is this child?
24 months
Name the metabolic disease that can cause subdural hematomas and retinal hemorrhages, which can be mistaken for child abuse.
Glutaric aciduria type 1
A 14 yo girl presents for evaluation, She had a urine dipstick done at school and was told it showed "protein". She is not hypertensive and has no fam hx of renal disease. She is growing well and just hit her growth spurt. Repeat UA shows proteinuria.
What diagnosis should you consider first?
Bening orthostatic proteinuria
A boy has a suspicious lymph node removed.
What is the classic histologic feature of Hodgkin lymphoma seen on biopsy of the lymph node?
Reed-Sternberg cell
a 15 yo boy presents after colliding with another player during a soccer game. He complains of knee pain, and his right knee is slightly swollen. You perform the walk test (pt is asked to squat down and walk like a duck), which causes reproducible pain in the medial joint line.
What is your diagnosis?
meniscal tear
- BMI at the 98th percentile
- Waist circumference at the 95th percentile
- SBP and DBO at the 95th percentile
List the indices for HDL, TGs and fasting glucose that would support diagnosis of metabolic syndrome.
HDL <40mg/dL
TGs >110 mg/dL
Fasting glucose >110 mg/dL
A patient presents with:
- Elevated plasma ammonia
- Low BUN
- Respiratory alkalosis
What general class of metabolic disorders is the most likely diagnosis?
Urea cycle defect
A patient presents with:
- High anion gap metabolic acidosis
- High osmolal gap
- Calcium oxalate crystals in urine
What is the most likely ingestion?
Ethylene glycol (antifreeze)
A child presents with:
- Nausea and vomiting
- Abdominal mass and pain in the ileocecal junction area
- Fever
CT scan of the abdomen confirms that the mass is at the ileocecal junction.
What is the most likely diagnosis?
Burkitt lymphoma
a 15 yo female joined her high school cross country/track team. She has been running several miles per day for the past several weeks but increased her running mileage for a meet. Since then, she has noticed her right knee "giving out" during her runs, along with pain at the anterior portion of her kneecap. PE: tenderness to palpation on the patella, no swelling or effusion of the knee joint. FROM of both knees. + pain of right knee on squatting.
What is the sports-related injury in this case?
patellofemoral syndrome
after 9 months of dietary changes and daily exercise, a 17yo male with obesity, HTN and poorly controlled DM type 2 fails to lose weight.
At what BMI should bariatric surgery be considered an appropriate tx option for this patient?
An infant presents with encephalopathy and you notice the odor of "sweaty feet".
What is the most likely diagnosis?
Isovaleric acidemia
A newborn presents with:
- Hx of oligohydramnios
- low-set ears
- flat nose
- retracted chin
- Palpable enlarged kidneys
- HTN
- Hepatic fibrosis
What is the most likely
ARPKD
- Maternal breast cancer
- Sarcoma in children
- Adrenocortical carcinoma
- Germline mutations in in p53 gene
- CNS tumor: gliomas, ependymomas, and choroid plexus carcinomas
What syndorme presents with these findings?
Li-Fraumeni syndrome
A newborn is found to have the following triad:
- Short neck
- Limited neck motion
- Low occipital hairline
These associated findings are noted as well:
- Deafness
- Macrocephaly
- Meningocele
What is the syndrome?
Klippel-Feil syndrome
A child was born with a "large head" (but within normal range). Now, at 3 months of age, he presents with a HC that exceeds the 98th percentile. Radiologic study confirms isolated enlargement of the subarachnoid space.
What is the recommended treatment?
Reassurance
A 1 yo presents with fasting-induced lethargy and documented hypoglycemia with a seizure. AST and ALT are elevated, as well as CK. He also has a history of arrhythmias.
What is the most likely diagnosis?
MCAD deficiency