Classic Presentations 1 Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Adrenal Hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan’s Syndrom (fibrillin defect)
Athlete w/ polycythemia
Secondary to EPO injections
Back pain, fever, night sweats, weight loss
Pott’s Disease (vertebral TB)
Bilateral hilar adenopathy, weight loss
Sarcoidosis (non caseating granulomas)
Blue sclera
Osteogenesis Imperfecta (type I collagen defect)
Bluish line on gingiva
Burton’s line, lead poisoning
bone pain, bone enlargement, arthritis
Paget’s Disease (Increase in OB and OC activity)
bounding pulses, diastolic heart murmur, head bobbing
Aortic Regurgitation
Butterfly facial rash, raynaud’s phenomenon, young female
SLE
cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune Albright syndrome (mosaic g-protein signaling mutation)
cafe au lait spots, lisch nodules (iris hamartoma)
NF-1 (+ pheochromocytoma + optic gliomas)
calf psudohypertrophy
Muscular dystrophy (most commonly Duchenne’s) X-Linked recessive deletion of dystrophin gene
Cherry red spot on macula
Tay Sachs (ganglioside accumulation) or Niemann Pick (sphingomyelin accumulation) central retinal artery occlusion
chest pain on exertion
Angina (stable w/ moderate exertion, unstable w/ minimal exertion)
chest pain, pericardia friction rub, pericardial effusion, persistent fever post MI
Dressler’s syndrome (auto-immune mediated post MI fibrinous pericarditis, 1-12 weeks after MI)
child sues arms to stand up from squat
Gower’s Sign (Duchenne muscular dystrophy)
child with fever later develop red raw on face that spreads to body “slapped cheek rash”
Parvovirus B19, erythema infectiosum/5th disease)
chorea, dementia, caudate degeneration
Huntington’s Disease (AD, CAG repeat)
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s disease (mm glycogen phosphorylase deficiency)
Cold intolerance
hypothryroidism
conjugate lateral gaze palsy, horizontal diploplia
internuclear ophthalmoplegia (damage to MLF; bilateral MS or unilateral stroke)
continuous machine like murmur
PDA (close with indomethacin, open or maintain with misoprostol)
cutaneous/dermal edema due to connective tissue deposition
myxedema (hypothyroidism or Grave’s Disease)
dark purple skin/mouth nodules
kaposi sarcoma (HHV-8) usually AIDS patient
deep labored breathing/hyperventiliation
Kussmaul breathing (DKA)
dermatitis, dementia, diarrhea
Pellegra (niacin vit B3 deficiency)
dilated cardiomyopathy, edema, alcoholism, malnutrition
Wet Beriberi (thiamine deficiency B1)
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
Elastic skin and hyper mobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
enlarged hard left supraclavicular node
Virchow’s node (abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary Syndrome (cutaneous t cell lymphoma) or mycosis fungoides
facial mm spasm upon tapping
Chvostek’s sign (hypcalcemia)
fat, female, forty, and fertile
Cholelithiasis
fever, chills, headache, myalgia, following Ab treatment for syphillis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
fever, cough, conjunctivitis, coryza, diffuse rash
Measles
fever, night sweats, weight loss
B symtoms–lymphoma
fibrous plaques in soft tissue of penis
Peyronie’s Disease (CT disorder, soft tissue tumors)
gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson’s Disease)
Hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited benign polyposis can cause bowel obstruction, increase GI cancer risk)
hepatosplenomagaly, osteoporosis, neurologic symptoms
Gaucher’s Disease (glucocerebrosidase deficiency)
hereditary nephritis, sensorinueral hearing loss, cataracts
Alport’s Syndrome (mutation in alpha chain of collagen IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
hyperreflexia, hypertonia, babinski sign
UMN damage
hyporeflexia, hypotonia, atrophy, fasiculations
LMN damage
hypoxemia, polycythemia, hypercapnia
Blue Bloater “chronic bronchitis, hyperplasia of mucus cells)
indurated ulcerated genital lesion
non painful chancre (primary syphilius) painful with exudate (H. ducreyi)
infant with cleft lip/palate, microcephaly, holoprosencephaly, polydactyly, cutis aplasia
Patau’s syndrome (trisomy 13)
toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
unilateral facial dropping involving forehead
Facial nerve (LMN CN VII palsy)
urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
vascular birthmark (port-wine stain)
Hemangioma (benign but associated with Sturge Weber syndrome)
vomitting blood following gastroesophageal lacerations
mallory-weiss syndrome (alcoholic and bulimic patients)
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple’s Disease (tropheryma whipplei)
worse headache of my life
subarachnoid hemorrhage
