First Aid Rapid Review - 1. Classic Presentations Part#1

gani19's version from 2017-05-05 02:22

Clinical presentations

Clinical PresentationDiagnosis/Disease
Acanthocytosis (RBCs look like spiny, like medieval mace) + Steatorrhea + failure to thriveAbetalipoproteinemia (↓ Apo-B48 (↓ chylomicrons), ↓ Apo-B100 (↓ VLDL))
Abdominal pain, ascites, hepatomegalyBudd-Chiari syndrome (posthepatic venous thrombosis) (IVC or Hepatic Vein)
Abdominal obesity, ↑ BP, ↓ HDL, ↑ triglycerides, ↑ fasting blood glucoseMetabolic Syndrome
Absent UDP-glucuronyl transferase, jaundice, kernicterus, ↑ unconjugated bilirubin, Tx = plasmapheresis and phototherapyCrigler-Najjar Syndrome Type I (TYPE II = less severe)
Achilles tendon xanthomaFamilial hypercholesterolemia ( ↓ LDL receptor signaling)
ACL + MCL + Medial (or sometimes Lateral) MeniscusUnhappy triad of Knee injury
Acryodynia (peeling of fingertips) + Kidney + CNSMercury Poisoning (also seen in Kawasaki's Disease)
Acute paralysis, dysarthria, dysphagia, diplopia, can cause Locked-in syndromeCentral Pontine Myelinolysis (demyelination on pons white matter tract due to rapid correction of Hyponatermia)
Adrenal hemorrhage, hypotension (SEPSIS) , DICWaterhouse-Friderichsen syndrome (meningococcemia) (Neisseria meningitidis)
African sleeping sickness (LAD + fever + coma ), Teste flyTrypanosoma brucei/gambiense/rhodesiense (Tx = Suramin for blood, Melarsoprol for CNS)
Agnosia (loss) of contralateral side of the world, spatial neglect syndrome, makeup on 1/2 of the face Right Parietal Lobe Lesion (Non-Dominant)
Albinismdecreased tyrosinase or improper migration of neural crest cells
Aneurysm in small vessels of the brain in basal ganglia and thalamus, seen in chronic HTNCharcot-Bouchard Microaneurysm --> cause Intraparanchymal Hemorrhages (Basal Ganglia)
Anosmia, delayed wound healing (rash around eyes, mouth, nose), dysgeusia (loss of sense of taste), ↓ adult hair (face, pubic), predispose to alcohol cirrhosisZinc deficiency (Zinc finger = transcription factor motif, protein interact w/ DNA)
Anosmia (loss of sense of smell), hypogonadism, defective migration of GnRH cells, (Hypogonadotrophic Hypogonadism)Kallmann Syndrome
Anterograde amnesia (can't form new memories)Hippocampus lesion
Anthracosis (carbon in macrophages of lungs), diffuse fibrosis, black lung, no ↑ in risk of lung cancer Coal Worker's Pneumoconiosis
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints Marfan's syndrome (fibrillin defect)
Arsenic or PVC exposureHepatic Angiosarcoma
Aschoff bodies (granuloma w/ giant cells), Anistchkow cells (large activated macrophages, "caterpillar cells) --> Pic --> surrounding = myocytes, middle = aschoff body, inside the aschoff body = anistchkow cells
Rheumatic Fever (Strep. pyogenes = Group A Strep, ASO titer, Protein M)

JONES criteria
Athlete with polycythemiaErythropoietin (EPO) injection
Back pain, fever, night sweats, weight lossPott's disease (vertebral tuberculosis)
Bacteria FROM JANE = Fever + Roth Spots (retina, white stop), Osler's nodes ("ouch ouch osler"painful lesions on fingers or toes), Murmur, Janeway lesions (painless, red lesions on palm or sole), Anemia, Nail-bed hemorrhage, Emboli

**vegetations ONLY on top (Atrial-side) of Mitral valve

Bacterial Endocarditis
(Acute = S. aureus = large vegetations on normal valves, rapid) vs. (Subacute = Viridans Strep = small vegetations on diseased valves, slow)

S. bovis (Colon Cancer), S. epidermidis (prosthetic valves)

Osler & Janeway = get from breaking off of septic vegetation from mitral vale and traveling in systemic circulation to different sites

**Mitra Valve = most common
Tricuspid Valve = in IV Drug users

Complications = chordae rupture, glomerulonephritis, pericarditis, emboli
Basophilic StipplingTAIL (Thalasemia, Anemia of Chronic Dz, Iron Deficiency, Lead poisoning), ribosomes
"Beads on a string", p-ANCA+, male, ulcerative colitis, Hyper IgAPrimary Sclerosing Cholangitis
Bell’s palsy (total facial – upper and lower paralysis)My Lovely Bella Had An STD (Lyme, Herpes, AIDS, Sarcoidosis, Tumor, Diabetes)
Benign capillary hemangioma of infants, regresses spontaneouslyStrawberry Hemangioma (blood vessel bening tumor) (Strawberry = young)
Benign capillary hemangioma of elderly, DOES NOT regresses spontaneouslyCherry Hemangioma (blood vessel bening tumor) (pop the cherry = old)
Benign capillary skin papules in AIDS patients, mistaken for Kaposi SarcomaBacillary Angiomatosis (Bartonella = cat/dog scratch disease)
Benign hamartoma (mass that looks like tumor, a lot of growth of normal tissue) of cardiac muscle, seen in children, associated w/ Tuberous SclerosisRhabdomyoma
Benign, painful red-blue tumor under fingernails, from glomus bodyGlomus Tumor (Glomus = fingernail tumor)
Benign mass in left atrium, most common primary tumor in adults, can obstruct Mitral valve --> sudden deathAtrial Myxoma
Bilateral Bell's PalsyLyme Disease (Erythema chronicum migrans = bulls eye rash, Ioxdes, Borrelia) or Guillain-Barre Disease (destruction of schwann cells)
Bilateral hilar lymphadenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Birbeck granules (tennis rackets), caner of dendritic/specialized macrophages of skin, CD1a+ & S100+ (neural crest), lytic bone lesions + rashLangerhans Cell Histiocytosis
Black urine, brown sclera pigments, dark connective tissue
Alkaptonuria (Ochronosis) - deficiency of homognestic acid oxidase (tyrosine metabolism)
Blisters on sun exposed skin, excessive hair growth (hyper-trichosis), facial hyper pigmentation, alcohol, HCV (~homeless man)
Porphyria cutanea tarda
Blockage in CSF circulation within the ventricular system --> buildup of CSF behind the blockage --> ↑ ICP, herniation, papilledemaNon-Communicating (Obstructive) Hydrocephalus (Hydrocephalus = abnormal ↑ in CSF)
Blue sclera
Osteogenesis imperfecta (congenital type I collagen defect)
Bluish line on gingiva, wrist drop/foot drop, anemia, encephalopathy, basophilic stippling
Burton's line (lead poisoning = tx = EDTA)

Lead poisoning (↓ Ferrochelatase , ↓ ALAD)
BMI > 30Obese
Bone pain, bone enlargement, arthritisPaget's disease of bone ( ↑ osteoblastic and ↑ osteoclastic activity)
Bone replaced w/ fibrosis + collagen,Polyostotic Fibrous Dysplasia
"Boot-shaped" heart on X-ray, congenital heart defect
Tetralogy of Fallot (b/c of RVH = patient squats to ↑ systemic pressure = ↑ afterload = push more blood into pulmonary circulation)
Bounding pulses, diastolic heart murmur, head bobbing, WIDE Pulse pressure (b/c during diastole = blood regurgitates back into LV and ↑ preload = ↑ contractility = wide pulse pressure)Aortic regurgitation
Brain abscess in HIV ptx, ring-enchanhing lesionToxoplasma (cysts in meat or cat shit pregnant women should avoid cats)
Brief (<1 hour), REVERSIBLE focal neuro deficits, without acute infarction (negative MRI)TIA (Transient Ischemic Attack)
Bronchospasm (wheezing) + Flushing + Diarrhea + Right sided heart murmur, "dense core bodies" on EM.Carcinoid Tumor (neuroendocrine cells, ↑ serotonin, small intestines) ((if you have diarrhea, flush the right valve to prevent bronchospasm in the next user)
"Butterfly" facial rash and Raynaud's phenomenon in a young female
Cadmium poisoninglungs + kidney + bone
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+ bilateral acoustic neuromas)
Cafe-au-lait spots + polyostotic fibrous dysplasia (bone replaced by fibroblasts and collagen) + precocious pubertyMcCune-Albright syndrome (mosaic G-protein signaling mutation) = Gprotein always active
Calf pseudohypertrophyMuscular dystrophy (commonly Duchenne): X-linked recessive deletion of deletion of dystrophin gene
Cancer of B-cells, t(11;18), associated w/ chronic inflammatory states Hashimoto Thyroiditis, Sjogren Syndrome, H. pylori gastritis (MALToma)Marginal Zone Lymphoma (Non-Hodgkin's Lymphoma)
Cancer of Plasma cells, CRAB = HyperCalcemia, Renal Insufficiency, Anemia, Bone lytic lesion/Bone pain (↑bone destruction, "punched out lesions"). Monoclonal M-protein Spike (IgG or IgA), Rouleaux formation (poker chips), ↑ light chain (primary AL amyloidosis), ↑ light chain in urine (Bence-Jones protein)

Multiple Myeloma (Plasma Cell Myeloma)

C = hypercalcium
R = renal failure
A = anemia
B = bone lytic lesions
Capillary hemangioma that can ulcerate and bleed, associated w/ trauma and pregnancyPyogenic Granuloma
Cat scratch diseaseBartonella henselae (Bart, your cat scratched me) - acute symptoms (hours)
Cat or Dog bitePasteurella multocida (symptoms in 5-7 days)
Cavernous lymphangioma of the neck (seen in Turner's, w/ Webbed neck)Cystic Hygroma
Cervical (neck) LAD painless + Mediastinal LAD painless, female, fibrosis in lymph node, Reed-Sternberg cells in lakes Lacunar cells
Nodular Sclerosis (most common Hodgkin's Lymphoma)
Charcot-Leyden crystals (eosinpphils in sputum), Curschmann's spirals (epithelium that forms a mucous plug), smooth muscle hypertrophy, bronchial hyperresponsiveness, reversible bronchoconstrictionAsthma
Charcot's Triad (Fever, Jaundice, RUQ pain) & ↑ Alkaline PhosphataseCholangitis (inflammation of biliary tree)
Cheilosis (scaling/fissures at corners of mouth), Corneal vascularization
Riboflavin (FAD) deficiency (B2), 2C's
"Cherry-red spot" on maculaTay-Sachs (LSD: ganglioside accumulation) or Niemann-Pick (LSD: sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion, CAD narrowing of > 75%, ST Depression on EkGAngina (stable: moderate exertion, PREDICTABLE; unstable: minimal exertion or at rest = NON-PREDICTABLE)
**ST depression = ischemia, subendocardial injury
Chest pain secondary to CORONARY ARTERY VASOSPASM, ST elevation on EKGPrinzmetal Angina (Tx = Nifedipine) (ST elevation = infarction, transmural injury)
Chest pain, pericardial effusion/friction rub, persistent fever following MI. autoimmune mediated pericarditis after 2-3 weeks after MI.Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 wks after acute episode)
Child uses arms to stand up from squatGowers' sign (Duchenne muscular dystrophy)
Child w/ fever develops red rash on face that spreads to body"Slapped cheeks" (erythema infectiosum/fifth disease; parvovirus B19)
Chorea, Crazy (dementia), Caudate degeneration, Chromosome 4, CAG repeat
Huntington's disease (autosomal dominant CAG repeat expansion)

↓ ACh & ↓GABA, ↑DA

C's of Huntington's Disease
Chorioretiniits, hydrocephalus & intracranial calcifications eye pain/vison changes + inc ICF + calcification in brain
Toxoplasma (tx = sulfadiazine + pyrimethamine)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuriaMcArdle's disease; GSD V (muscle glycogen phosphorylase deficiency)
Cirrhosis, Diabetes Mellitus, Bronze pigmentation of skinHemochromatosis (inc iron in body), HLA-A3
Cirrhosis, PAS-positive liver, lung panacinar emphysemaalpha1-Antitrypsin Deficiency
Congenital failure of Cerebral Vermis to develop, dilated 4th ventricle, hydrocephalus Dandy-Walker Malformation