with All Correct Answers 2025-2026
Update.
Abdominal pain, ascites, hepatomegaly - Answer Budd-Chiari Syndrome (post hepatic
venous thrombosis). Associated with Polycythemia vera.
Achilles tendon Xanthoma - Answer Familial Hypercholesterolemia (absent/defective LDL
receptors)
May have MI before age 20
Autosomal dominant
Adrenal hemorrhage, hypotension, DIC - Answer Waterhouse-Friedrichsen syndrome
(Neisseria meningitidis)
Anaphylaxis and/or angioedema following blood transfusion - Answer IgA deficiency; C1
inhibitor deficiency would only cause angioedema, not anaphylaxis
Arachnodactyly (spider fingers), lens dislocation, aortic dissection or aneurysm, hyperflexible
joints, pectus excavatum - Answer Marfan Syndrome (FBN1 gene mutation
chromosome 15 leads to defective fibrillin)
Autosomal Dominant
Athlete with polycythemia - Answer Secondary to EPO injection
Back pain, fever, night sweats - Answer Pott disease (vertebral TB)
Bilateral acoustic schwannomas - Answer Neurofibromatosis type 2
S-100+, cerebellopontine angle
Bilateral hilar adenopathy, uveitis, high ACE, hypercalcemia (activated macrophages for Vit D),
interstitial fibrosis, erythema nodosum, elevated CD4:CD8 ratio on lavage; asteroid bodies -
Answer Sarcoidosis (non-caseating granulomas)
,Blue sclera - Answer Osteogenesis Imperfecta (Type I collagen defect forming triple helix)
Blue due to exposure of choroidal veins
Bluish line on gingiva and basophilic stippling - Answer Burton line (lead poisoning)
Basophilic stippling (rRNA remnants)
Constipation, anemia, CNS impairment
Bone pain, bone enlargement (hat size or hearing loss), arthritis - Answer Paget disease of
bone (Increased osteoclastic, then osteoblastic activity)
Osteosarcoma or heart failure
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing - Answer Aortic
Regurgitation
"Butterfly" facial rash or discoid rash and Raynaud phenomenon in a young female - Answer
Systemic lupus erythematosus
Type III Hypersensitivity (antigen-antibody complexes deposit) with glomerulonephritis
Type II hypersensitivity with autoimmune hemolysis
Carcinoma spread - Answer Lymphatics to lymph nodes (except HCC, Renal cell, follicular
thyroid and choriocarcinoma which spread hematogenously)
Sarcoma spread - Answer Hematogenously
Cafe-au-lait spots, Lisch nodules (iris hemartoma), cutaneous neurofibromas - Answer
Neurofibromatosis Type I, pheochromocytoma, optic gliomas
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple
endocrine abnormalities - Answer McCune-Albright syndrome (mosaicism, G-protein
signaling mutation)
Calf pseudohypertrophy - Answer Muscular dystrophy (Duchenne, due to X-linked frameshift
> truncated dystrophin)
,Cervical lymphadenopathy, desquamating rash on palms and soles, coronary aneurysms, red
conjuctivae, and strawberry tongue - Answer Kawasaki disease (treat with IVIG and aspirin
which inhibits TXA2)
"Cherry-red spots" on macula - Answer Tay-Sachs (ganglioside accumulation - NO
hepatosplenomegaly)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion
Chest pain on exertion - Answer Angina (stable: with moderate exertion, *cellular swelling
indicates reversibility*, atherosclerosis; unstable: with minimal exertion or at rest, partial
occlusion)
Chest pain, pericardial effusion/friction rub, persistent fever weeks after an MI - Answer
Dressler syndrome (autoimmune reaction to necrotic tissue causing fibrinous pericarditis, 2-12
weeks after acute episode)
Chest pain with ST depressions EKG - Answer Subendocaridal ischemia
Unstable angina (troponins -, reversible) and NSTEMI (troponins +, irreversible)
Child uses arms to stand up - Answer Duchenne Muscular Dystrophy (Gowers sign)
Child with fever later develops red rash on face that spreads to body - Answer "Slapped
cheeks" (Erythema infectiosum/fifth disease: parvovirus B19)
Single-stranded DNA virus
Aplastic Anemia in Sickle Cell, B-thalessemia
Chorea, dementia, caudate degeneration - Answer Huntington disease (AD, CAG repeat
expansion)
Hamiballismus caused by subthalamic nuclei
Loss of GABAergic neurons
Chorioretinitis, hydrocephalus, intracranial calcifications - Answer Congenital Toxoplasmosis
, Cold intolerance, weight gain, bradycardia, facial myxedema, *hypercholesterolemia* - Answer
Hypothyroidism
Conjugate horizontal gaze palsy, horizontal diplopia - Answer Internuclear opthalmoplegia
(damage to MLF; may be unilateral or bilateral)
Continuous "machine-like"heart murmur - Answer PDA (close with indomethacin; open or
maintain with PGE analogs)
Congenital Rubella
*Late cyanosis in lower extremity*
Cutaneous/dermal edema due to connective tissue deposition - Answer Myxedema (caused
by hypothyroidism, Graves disease [pretibial])
Cutaneous flushing, diarrhea, bronchospasm - Answer Carcinoid syndrome (right-sided
cardiac valvular fibrous lesions, Increased 5-HIAA in urine, 5-HT in serum)
Requires mets from GI to liver
Dark purple skin/ mouth nodules in a patient with AIDs - Answer Kaposi Sarcoma, associated
with HHV-8
Endothelial cell tumor, not of blood vessels (will not blanche)
Spindle cells
Spreads via blood
Deep, labored breathing/hypoventilation - Answer Diabetic Ketoacidosis (Kussmaul
respirations)
Mild = glossitis
Severe = Broad collar Dermatitis, dementia, diarrhea, - Answer Pellagra (Niacin [B3]
Deficiency)
Caused by Hartnups or isoniazid (B6)
Dilated cardiomyopathy, edema, alcoholism or malnutrition - Answer Wet Beriberi (Thiamine
[B1] Deficiency)