Classic Presentations A--L Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari Syndrome (posthepatic veinous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Anterior “drawer” sign
ACL injury
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete w/ polycythemia
2/2 EPO injection
Back pain, fever, night sweats, weight loss
Pott disease (vertebral TB)
Bilateral hilar lymphadenopathy, uveitis
sarcoidosis (non caseating granulomas)
Blue sclera
osteogenesis imperfecta (type 1 collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget disease of bone (incr osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
aortic regurgitation
“butterfly” facial rash and raynaud phenomenon in a young female
SLE
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
NF Type 1 (+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 (most commonly Duchenne): x-linked recessive deletion of dystrophin gene
“cherry red spots” on macula
Tay sachs (ganglioside accumulation) or Niemann-pick (sphingomyelin accumulation), central retinal artery occlusion
chest pain on exertion
angina (stable: with moderate exertion; unstable: with minimal exertion)
chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (auto-immune mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat
Gower’s sign (Duchenne muscular dystrophy)
Child w/ fever later develops red rash on face that spreads to body
“slapped cheeks” (erythema infectiosum/5th disease; parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (muscle glycogen phosphorylase deficiency)
cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF; bilateral– multiple sclerosis, unilateral–stroke)
continuous “machine-like” heart murmur
PDA (close with indomethacin; keep open with misoprostol–PGE2)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease-pretibial myxedema)
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
Deep, labored breathing/hyperventilation
Kussmaul respirations (DKA)
Dermatitis, dementia, diarrhea
Pellagra (niacin B3 deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine B1 deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency, anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of joints
Ehler-Danlos syndrome (Type 3 collage defect)
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
Fat, female, forty, fertile
Cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer rxn (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
Gout, intellectual disability, self-mutilating behavior in boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (Cu accumulation from Wilson disease)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jehgers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen 4)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoxemia, polycythemia, hypercapnia
“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau Syndrome (trisomy 13)–decreased bHCG, decr PAPP-A, increased nuchal translucency
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
Infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defects
Edwards syndrome (trisomy 18)–decreased PAPPA and free BhCG; quad screen: pan decreased AFP/bHCG/estriol/inhibin; inhibin can be normal
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)–indicative of non-gallstone pathology: pancreatic cancer, gallbladder cancer, cholangiocarcinoma, etc
Large rash with bull’s eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
