The one with the ammonia
The one where we like soy formula
The case with the recurrent intussusception
The one with the palatal mass
The one about Friends Trivia
100
Name symptoms of urea cycle disorder?
Infants: somnolence, poikilothermia, apnea, obtundation, seizures and ultimately leading to coma and death.
Older children/adolescents: vomiting, ataxia, slurred speech, and hallucinations.
100
What enzyme is deficient in galactosemia?
GALT (Galactose-1-phosphate uridyltransferase)
100
Signs and symptoms of intussusception.
Intermittent pain, vomiting, sausage shaped mass on physical exam, bloody/mucus stool "currant jelly" stool, and lethargy.
100
What was the patient's diagnosis?
Langerhans cells histiocytosis
100
What is the name of Ross's monkey?
Marcel
200
Labs to order when suspecting urea cycle disorder
Ammonia, blood gas, lactate, plasma amino acids, urine organic acids, urine orotic acid
200
What are signs and symptoms of galactosemia? (Name 4)
FTT, vomiting, cataracts, fulminant hepatic failure, jaundice, e.coli sepsis.
Even after adhering to proper treatment (lactose/galactose restriction), the body produces endogenous galactose. Individuals with classic galactosemia are still at risk for developmental and learning delays, and females are at risk of premature ovarian insufficiency.
200
Differential diagnosis for recurrent intussusception. Name 4.
Residual bowel edema or inflammation, lymphoid hyperplasia, malignant tumors, benign mass lesions, idiopathic recurrence, and with appropriate clinical picture IgA vasculitis (HSP) can be considered and can cause submucosal edema and/or hematoma.
200
The pathophysiology of LCH?
Gain of function mutation in proto-oncogene BRAF leading to clonal myeloid malignancy of histiocytes.
200
What type of self defense does Ross try to teach Rachel and Phoebe?
Unagi
300
Treatment for urea cycle disorder?
Dextrose containing fluids as nonprotein source of calories, consult nephrology for possible dialysis (ammonia levels >250mmol/L), nitrogen scavengers (sodium phenyl acetate and sodium benzoate), arginine hydrochloride (to help the body continue to process ammonia through the remainder of the urea cycle--beyond the defect), pause protein sources until 48-72 hours then introduce low protein TPN or metabolic formula.
300
What specific finding can distinguish Hurler's disease from Hunter syndrome?
Corneal clouding is found in Hurlers not Hunters.
Both are LSD resulting in buildup of mucopolysaccharidoses. Affects the brain, eyes, tongue, liver, spleen, heart, spine, lungs, and cause defective endochondral and membranous growth (dysostosis multiplex).
300
True or false: Infantile myofibromatosis (IM) is common in females and occurs within the the first year of life.
False; more common in males.
IM is a mesenchymal disorder resulting in fibrous tumors involving the skin, subcutaneous tissue, muscle, bone, and viscera. It is the most common fibrous tumor of infancy. 90% of cases are diagnosed within in the first year.
300
Signs and symptoms of LCH.
Bonus: High risk vs low risk findings
Skeletal involvement (80%), skin complaints (30-70%) with most common presentation being seborrhea like rash on scalp, CNS (2%) including mass lesions, central DI, neurodegeneration including ataxia, dysarthria, behavioral changes, and demyelination on MRI, oral (10%) including gingival hypertrophy and oral ulcers, and pancytopenia.
High risk: younger children, multi organ involvement including liver, spleen and bone marrow.
Low risk: skin, bone, lymph nodes, and pituitary gland
300
What does Phoebe legally change her name to after she gets married?
Princess Consuela Banana Hammock
400
Signs and symptoms of fatty acid oxidative disorders?
Hypoketotic hypoglycemia, cardiomyopathy, rhabdomyolysis, abnormal LFTs, seizures, encephalopathy, pigmentary retinopathy (seen with LCADD)
400
How does Gaucher disease present?
Bonus: bone marrow biopsy findings?
Anemia, thrombocytopenia, hepatosplenomegaly, and bone pain. Commonly mistaken for a hematologic malignancy.
Bonus: Gaucher cells (crumpled tissue paper appearance of a macrophage)
400
Name the 3 types of IM
Solitary: most common and presents with a single lesions most commonly involving the skin or muscles of the head or neck. Typically appear as subcutaneous nodules but can also appear similar to a cutaneous ulcer, pedunculate lesion, or hemangioma.
Multicentric: multiple lesions the involve the skin, subcutaneous tissue, muscle and bone.
Generalized form: includes viscera
400
Treatment for LCH (hint 3 regimens described in the article)
Skin limited illness: topical corticosteroids, oral chemotherapy (such as methotrexate).
Low risk: prednisone and vinblastine for at least 12 months.
High risk: prednisone, vinblastine, and mercaptopurine for at least 12 months.
400
What caused the fire at Rachel and Phoebe's apartment?
Rachels hair straigtener.
500
True or false: the prognosis for very long chain acyl coA dehydrogenase deficiency (VLCADD) is better than those with medium chain acyl-coA dehydrogenase deficiency (MCADD).
False.
500
What is the hallmark finding on bone marrow biopsy of both TaySachs disease and Niemann Pick disease?
Foam cell (macrophage containing stored sphingolipids)
500
Which type of IM has a poor prognosis?
Generalized IM with mortality rates up to 76%.
Solitary and multicentric IM has an excellent prognosis with spontaneous regression of tumors within 2 years.
500
Signs and symptoms presented by child in article.
Hint:
Soft tissue mass on CT involving hard palate and maxillary bone, palatal mass with drainage and gingival swelling, seborrhea like scalp rash, and microcytic anemia.
500
What is the name of Joeys stuffed penguin?
Hugsy
