Term
| Abdominal pain, ascites, hepatomegaly |
|
Definition
Budd-Chairi syndrome (post-hepatic venous thrombosis)
[Note: no JVD rules out CHF] |
|
|
Term
|
Definition
Family Hypercholesterolemia
[Family Dislipidemia Type IIa] |
|
|
Term
| Adrenal hemorrhage, hypotension, DIC |
|
Definition
Waterhous-Friderichsen syndrome (meningococcemia)
[Neisseria mengitidis] |
|
|
Term
| Arachodactyly, lens dislocation, aortic dissection, hyperflexible joints |
|
Definition
| Marfan's syndrome (fibrillin defect) |
|
|
Term
| Back pain, fever, night sweat, weight loss |
|
Definition
| Pott's disease [vertebral TB] |
|
|
Term
| Big toe extension/fanning upon plantar scrape |
|
Definition
| Babinski sign (UMN lesion) |
|
|
Term
| Bilateral hilar adenopathy, uveitis |
|
Definition
| Sarcoidosis (noncaseating granulomas) |
|
|
Term
|
Definition
| Osteogenesis imperfect (collagen [I] defect) |
|
|
Term
|
Definition
| Burton's line (lead poisoning) |
|
|
Term
| Bone pain, bone enlargment, arthritis |
|
Definition
Paget's disease of bone (increased osteoblastic and osteoclastic activity)
[Other signs = increased hat size, increased incidence of fracture] |
|
|
Term
| Cafe-au-laut spots, Lisch nodules (iris hamartoma) |
|
Definition
Neurofribomatosis type I (+ bilateral acoustic neuromas = type II)
[Cafe-au-lait spots also in McCune-Albright] |
|
|
Term
|
Definition
| Muscular dystrophy (most commonly Duchenn's) |
|
|
Term
| "Cherry-red spot" on macula |
|
Definition
| Tay-Sachs (ganglioside accumulation) or Niemann-Pick (lysosomal storage disease [sphingomyelinase deficiency]) |
|
|
Term
| Chest pain, pericardial effusion/friction rub, persistent fever following MI |
|
Definition
| Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis) |
|
|
Term
| Child uses arms to stand up from squat |
|
Definition
| Gower's sign (Duchenne muscular dystrophy; X-linked recessive deleted dystrophin) |
|
|
Term
| Child with fever develop red rash on face that spreads to body; "slapped cheeks" |
|
Definition
Eythema infectiosum/fifth disease; Parvovirus B19
[Sickle cell increases chances of Parvovirus B19; non-enveloped, single-stranded DNA virus] |
|
|
Term
| Chorea, dementia, caudate degeneration |
|
Definition
Huntingington's (autosomal dominant CAG repeat expansion)
[All those extra C's = chorea, crazy, caudate] |
|
|
Term
| Chronic exercise intolerance with myalgia, fatigue, painful cramps |
|
Definition
| McArdle's disease (muscle phosphorylase deficiency) |
|
|
Term
|
Definition
|
|
Term
| Conjugate lateral gaze palsy, horizontal diplopia |
|
Definition
Medial longitudinal fasciculus damage
Bilateral = multiple sclerosis
Unilateral = stroke |
|
|
Term
| Continuous "machinery" heart murmur |
|
Definition
| PDA (close with indomethacin; open with misoprostol) |
|
|
Term
| Cutaneous/dermal edema due to connective tissue deposition |
|
Definition
| Myxdema (hypothyroidism, Graves' disease) |
|
|
Term
| Dark purple skin/mouth nodules |
|
Definition
| Kaposi's sarcoma (usually AIDS patients [gay men]' associated with HHV-8) |
|
|
Term
| Deep, labored breathing/hyperventilation |
|
Definition
| Kussmaul breathing (diabetic ketoacidosis) |
|
|
Term
| Dermatitis, dementia, diarrhea |
|
Definition
| Pellagra (niacin [vitamin B3] deficiency) |
|
|
Term
| Dilated cardiomyopathy, edema, polyneuropathy |
|
Definition
| Wet beriberi (thiamine [vitamine B1] deficiency) |
|
|
Term
| Dog or cat bite resulting in infection |
|
Definition
|
|
Term
| Dysphagia (esophageal webs), glossitis, iron deficiency anemia |
|
Definition
| Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma) |
|
|
Term
| Elastic skin, hypermobility of joints |
|
Definition
| Ehlers-Danlos, collagen defect [typically, type III] |
|
|
Term
| Enlarged, hard left supraclavicular node |
|
Definition
| Virchow's node (abdominal metastasis) |
|
|
Term
| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells |
|
Definition
| Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides |
|
|
Term
| Facial muscle spasm upon tapping |
|
Definition
Chvostek's sign (hypocalcemia)
[Cheeks = Chvostek] |
|
|
Term
| Fat, female, forty, and fertile |
|
Definition
| Acute cholecystitis [cholilithiasis] (bile duct blockage) |
|
|
Term
| Fever, chills, headache, myalgia following antibiotic treatment for syphilis |
|
Definition
| Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release) |
|
|
Term
| Fibrous plaques in soft tissue of penis |
|
Definition
| Peyronie's disae (connective disorder) |
|
|
Term
Fever, cough, conjunctivitis, coryza [aka "head cold"], diffuse rash, |
|
Definition
|
|
Term
| Fever, night sweats, weight loss |
|
Definition
| B symptoms (lymphoma) [also TB] |
|
|
Term
| Gout, mental retardation, self-mutilating behavior in a boy |
|
Definition
| Lesch-Nyhan syndrome (HGPRT deficiency) |
|
|
Term
| Green-yellow rings around peripheral cornea |
|
Definition
| Kayser-Fleischer rings (copper accumulation from Wilson's disease) |
|
|
Term
| Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands |
|
Definition
| Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk) |
|
|
Term
| Hepatosplenomegaly, osteoporosis, neurologic symptoms |
|
Definition
| Gaucher's disease (glucocerebrosidase) [also, "crumpled tissue paper" Gaucher cells] |
|
|
Term
| Hereditary nephritis, sensorineural hearing loss, cataracts |
|
Definition
| Alport's syndrome (collagen [type IV] mutation) |
|
|
Term
| Hypercoagulability (leading to migrating DVTs and vasculitis) |
|
Definition
| Trousseau's sign (adenocarcinoma of pancreas or lung) |
|
|
Term
| Hyperphagia, hypersexuality, hyperorality, hyperdocility |
|
Definition
| Kluver-Bucy syndrome (bilateral amygdala lesion) |
|
|
Term
| Hypertension, hypokalemia, metabolic acidosis [think this should be metabolic alkalosis] |
|
Definition
|
|
Term
| Hypoxemia, polycythemia, hypercapnia |
|
Definition
| "Blue bloater" (chronic bronchitis: hyperplasia of mucous cells) |
|
|
Term
| Indurated, ulcerated genital lesion (nonpainful) |
|
Definition
| Chancre (primary syphilis: Treponema pallidum) |
|
|
Term
| Infant with failure to thrive, hepatosplenomegaly, neurodegeneration |
|
Definition
Niemann-Pick disease (genetic sphingomyelinase deficiency)
[Also, cherry-red macula] |
|
|
