Rapid Review - p. 652-661 Flashcards
Abdominal pain, ascites, hepatomegaly
Budd Chiari Syndrome - Hypercoagulable states (Polycythemia, Increased estrogen, HCC)
Achilles tendon xanthoma
Familial hypercholesterolemia (Decreased LDL receptor signaling)
Adrenal hemorrhage, Hypotension, DIC
Waterhouse-Freidrichsen Syndrome (meningococcemia)
Anaphylaxis following blood transfusion
IgA Deficiency
Upward lens dislocation
Marfan Syndrome
Athlete with polycythemia
He took EPO
Back pain, fever, night sweats
Pott’s Disease (Vertebral TB)
Bilateral acoustic schwannomas
NF2 - Chromosome 22 (Autosomal Dominant)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Black eschar on face in diabetic
Mucor or Rhizopus fungal infection
Bluish line on gingiva
Lead (Burton line)
Bone pain, bone enlargement, arthritis
Paget disease (increased osteoblastic and osteoclastic activity)
Bounding pulses, wide pulse pressure, diastolic heart murmur, HEAD BOBBING
Aortic Regurgitation
Uvula pulsates, HUGE pulses everywhere.
Cafe au lait spots, Lisch nodules, cutaneous neurofibromas, PHEOCHROMOCYTOMAS, optic gliomas
NF1 - Chromosome 17 (Autosomal Dominant)
Unilateral cafe au last spots, Polyostic fibrous dysplasia, Precocious puberty, Multiple Endocrine abnormalities
McCune-Albright Syndrome (mosaic G-Protein mutation) pg. 53
Calf Pseudohypertrophy
DMD - X-Linked Recessive
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, Hand-foot changes
Kawasaki - Treat with IVIG and High dose aspirin
Cherry Red-Spots on Macula
Tay Sachs - Ganglioside accumulation
Niemann Pick - Sphingomyelin accumulation
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler Syndrome - Autoimmune mediated post-MI fibrinous pericarditis. 2 weeks to several months after acute episode
Chorioretinitis, Hydrocephalus, Intracranial calcifications
Congenital toxoplasmosis
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle Disease (skeletal muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate horizontal gaze palsy, horizontal diplopia
INO - ipsilateral lesion to the eye that cannot adduct. Other eye will show nystagmus with attempted adduction.
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease (pretibial) )
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right sided cardiac valvular lesions, Increased 5-HIAA). Pellagra like symptoms
Most commonly in small intestine, only symptomatic if metastasizes and 5-HT is converted to 5-HIAA in the liver
Deep labored breathing/hyperventilation
Diabetic ketoacidosis (Kussmaul respiration)
Dilated cardiomyopathy, edema, alcoholism, or malnutrition
Wet beriberi (Thiamine B1 deficiency)
Dog or cate bite
Pasteurella multocida with cellulitis
Dry eyes, dry mouth, arthritis
Sjogren Syndrome
Dysphagia (esophageal webs), glossitis, iron deficiency
Plummer Vinson Syndrome (may progress to esophageal squamous cell carcinoma)
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis - Signet ring cells)
Episodic vertigo, tinnitus, hearing loss
Meniere disease
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-Cells
Mycosis Fungoides (cutaneous T Cell lymphoma) or Sezary Syndrome (mycosis fungoides + malignant T Cells in the blood)
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
Fever, chills, headache, myalgia following antibiotic treatment for syphillis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin like release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Coryza - stuffy nose
Fever, night sweats, weight loss
B symptoms of lymphoma
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (CT disorder)
Golden brown rings around peripheral cornea
Wilson Disease (Kayser-Fleischer rings due to copper accumulation)
Gout, intellectual disability, self-mutilation
Lesch-Nyhan syndrome (HGPRT deficiency, X-Linked Recessive)
Hamartomous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jegher syndrome (inherited benign polyposis can cause bowel obstruction) Increased GI cancer risk
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Gaucher disease (Glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
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
Chronic bronchitis (Hyperplasia of mucous cells, “Blue bloater”)
Indurated, ulcerated genital lesion
Nonpainful: Chancre (Primary syphilis - Treponema pallidum)
Painful with exudate: Chancroid (Haemophilis ducreyi)
Infant with cleft lip/palate, microcephaly, or holoprosencephaly, polydactyly, cutis aplasia
Patau Syndrome (Trisomy 13)
Infant with hypoglycemia, Hepatomegaly
Cori disease (Debranching enzyme deficiency) OR Von Gierke (Glucose-6 phosphatase deficiency)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward’s Syndrome (Trisomy 18)
Jaundice, Palpable distended NON-TENDER gallbladder
Courvoisier sign (Distal malignant obstruction of biliary tree)
Lucid interval after traumatic brain injury
Epidural hematoma
Male child, recurrent infections, no mature B Cells, no tonsils
Bruton disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (Defect in platelet aggregation due to lack of GPIIb/IIIa)
Muffled heart sounds, JVD, Hypotension
Cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted supernumerary teeth
Gardner Syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), Exercise intolerance
Pompe disease (lysosomal a-1,4-Glucosidase Deficiency)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk C5-C6)
Waiters tip
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
Painful blue fingers/toes, Hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia cause by Mycoplasma pneumonia, infectious mononucleosis, CLL)
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting the skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
Periorbital and/or peripheral edema, proteinuria (>3.5 g/day), Hypoalbuminemia, Hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
Emphysema (Centriacinar)
OR a1-antitrypsin deficiency (Panacinar)
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Lichen planus
Rash on palms and soles
Coxsackie A
Secondary Syphilis
Rocky Mountain spotted fever
Recurrent cold (non-inflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
Red “currant jelly” stools
Acute mesenteric ischemia (adults)
Intussusception (children)
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Severe jaundice in neonate
Crigle-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpation of LLQ
Roving sign (acute appendicitis)
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
Short stature, café au last spots, thumb/radial defects, increase incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Skin hyperpigmentation, hypotension, fatigue
Addisons - primary adrenocortical insufficiency
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)