Classic Presention + Diagnosis/Disease Flashcards
Achilles Tendon Xanthoma
Familial Hypercholesterolemia (Low LDL Receptor Signaling)
Abdominal Pain + Ascities + Hepatomegaly
Budd-Chiari Syndrome (Post-Hepatic Venous Thrombosis)
Adrenal Hemorrhage + Hypotension + DIC
Waterhouse-Friderichsen Syndrome (Meningococcemia)
Anterior Drawer Sign (Positive)
ACL Injury
Arachnodactyly + Lens Dislocation + Aortic Dissection + Hyper-flexible Joints
Marfan Syndrome (Fibrillin Defect)
Athlete with Polycythemia
Secondary to Erythropoietin Injection
Back Pain + Fever + Night Sweats + Weight Loss
Potts Disease (Vertebral TB)
Bilateral Hilar Adenopathy + Uveitis
Sarcoidosis (Noncaseating Granulomas)
Blue Sclera
Osteogenesis imperfecta (Type 1 Collagen)
Bluish Line on Gingiva
Burton Line (Lead Poisoning)
Bone Pain + Bone enlargement + Arthritis
Paget Disease of bone (increased osteoblastic and osteoclastic activity)
Bounding pulses + diastolic heart murmur + head bobbing
Aortic Regurgitation
Butterfly facial rash + Raynaud Phenomenon in a young female
SLE (Lupus)
Cae-au-lait spots + Lisch nodules (iris hamartoma)
Neurofibromatosis Type 1 (and pheochromocytoma/optic gliomas)
Cafe-au-lait spots + polyostotic fibrous dysplasia + precocious puberty + multiple endocrine abnormalities
McCune-Albright Syndrome (Mosaic G-Protein Signaling mutation)
Calf Pseudohypertrophy
Muscular Dystrophy (Must Likely Duchenne’s) –> X-Linked Recessive (deletion of the dystrophin gene)
“Cherry-Red” Spots on the macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation) (Lysosomal storage disease)
Chest pain on exertion
Angina (stable with moderate exertion vs. unstable with minimum exertion)
Chest Pain + Pericardial Effusion + Friction Rub + Persistent Fever –> All Post MI
Dressler Syndrome (Autoimmune-mediated Post MI fibrinous pericarditis 1-12 weeks after the acute MI)
Child uses arms to stand up from a squat
Gowers Sign - Duchenne Muscular Dystrophy
Child with fever later develops a facial rash that spreads to the body
Slapped Check Rash - Parovirus B19 (Fifths Disease)
Chorea + Demential + Caudate Degeneration
Huntington’s Disease (Autosomal Dominant CAG Expansion)