Clinical Diagnosis/ Disease
Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
What is McCune-Albright syndrome (Gs-protein activating mutation)?
Clostridium tetani
What is Antitoxin and wound debridement?
Mucin-filled cell with peripheral nucleus
What is “Signet ring” cells (diffuse gastric carcinoma)?
Aortic aneurysm, thoracic
What is Marfan syndrome (idiopathic cystic medial degeneration)?
Anti-glomerular basement membrane
What is Goodpasture syndrome?
Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus
What is MEN2B (autosomal dominant RET mutation)?
HIV pre-exposure prophylaxis
What is Tenofovir + emtricitabine?
Decreasing T cells, decreasing PTH, decreasing Ca2+, absent thymic shadow on CXR
What is Thymic aplasia (DiGeorge syndrome, velocardiofacial syndrome)?
Lysosomal storage disease
What is Gaucher disease?
Anti-desmoglein (anti-desmosome)
What is Pemphigus vulgaris?
Late separation (>30 days) of umbilical cord, no pus, recurrent skin and mucosal bacterial infections
What is Leukocyte adhesion deficiency (type 1; defective LFA-1 integrin)?
Treponema pallidum
What is Penicillin G?
Pseudopalisading pleomorphic tumor cells on brain biopsy
What is Glioblastoma multiforme?
Mitral valve stenosis
What is Rheumatic heart disease?
PR3-ANCA/cytoplasmic ANCA (c-ANCA)
What is Granulomatosis with polyangiitis?
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
What is Edwards syndrome (trisomy 18)?
Crohn disease
What is Glucocorticoids, infliximab, azathioprine?
Dilated cardiomyopathy with apical atrophy, megacolon, megaesophagus
What is Chagas disease (Trypanosoma cruzi)?
Cardiac 1° tumor (kids)
What is Rhabdomyoma, often seen in tuberous sclerosis?
Anti-Ro/SSA, anti-La/SSB
What is Sjogren syndrome?
Neonate with arm paralysis following difficult birth, arm in “waiter’s tip” position
What is Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury)?
Myelosuppression from methotrexate
What is Leucovorin?
Nodular hyaline deposits in glomeruli
What is Kimmelstiel-Wilson nodules (diabetic nephropathy)?
Congenital conjugated hyperbilirubinemia (black liver)
What is Dubin-Johnson syndrome (inability of hepatocytes to secrete conjugated bilirubin into bile)
IgA anti-endomysial, IgA anti-tissue transglutaminase, IgA and IgG deaminated gliadin peptide
What is Celiac disease?