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Diarrhea: food toxins
puffer-fish, ciguatoxin, scombroid
8yo M with chronic diarrhea, steatorrhea, abdominal distention, and failure to thrive.
Celiac disease (Gluten-sensitive enteropathy). Adult presentation more vague with megaloblastic anemia, diarrhea, vague abdominal symptoms. Abs include endomysial, gliadin, and reticulin. IgA endomysial Ab with high sensitivity and specificity.
23yo M former aid worker in Guatemala has resolving bloody diarrhea nd develops stricturing and mucosal damage to colon.
Entamoeba histolytica. Don't confuse with inflammatory bowel disease.
14yo with recurrent epistaxis and multiple small red lesions on lips, mouth, tongue. Mother and uncle have similar condition.
Hereditary hemorrhagic telangiectasias = Osler-Weber-Rendu. Autosomal dominant. Mucosal bleeding. Association with pulmonary AV fistula.
5yo Asian F with sudden eye pain and loss of vision after watching a film. Reports seeing halos around lights at night.
Acute glaucoma (angle closure). Hazy cornea, elevated intraocular pressure. Rock-hard eye. Rx: analgesics, IV acetazolamide, topical beta-blocker, steroids, pilocarpine, laser iridotomy. Precip'd by mydriatics and switch from dark to well lit areas.
60yo F with obesity presents with intermittent vaginal bleeding for three months. Has never had children.
Endometrial CA. Estrogen-dependent cancer. Rx: hysterectomy, radiation. Important to include in differential of postmenopausal bleeding.
Common causes of lower GI bleeding?
hemorrhoids, anal fissure, inflammatory bowel, diverticulitis, carcinoma, intussusception.
Ectopic ACTH tumors?
Bronchial carcinoma, carcinoid.
24yo obese F with menstrual irregularity, hirsutism, and acne.
Polycystic ovarian syndrome. Stein-Leventhal syndrome = obesity, amenorrhea, and hirsutism. DM2 develops in 40% by age 40. Labs = incr LH, +/- incr T, normal FSH, prolactin and TSH. Pelvic
Common causes of upper GI bleeding?
Duodenal ulcer > stomach erosions / gastritis > GERD > gastric ulcer > Mallory-Weiss > duodenal erosions > esophageal/gastric varices > stomach CA
Most common cause of Cushing's syndrome?
ACTH overproduction by pituitary 60% > ectopic ACTH (15%) > adrenal adenoma (15%) > adrenal carcinoma (10%). Cushing's disease usually pituitary microadenoma (90%) more frequently in women.
53yo F with hyperlipidemia, puffy face, and coarse hair, and hair loss.
Hypothyroidism: Spontaneous atrophic, postsurgical, radioactive I, Hashimoto's (thyroid peroxidase and thyroglobulin Abs in 90%). Dry skin, coarse hair, facial edema, effusion, ascites, cardiac dilatation. Assoc c pernicious anemia and carpal tunnel.
11yo M with with color blindness, midline facial deformity, and anosmia.
Isolated gonadotropin deficiency = Kallman's syndrome. Prepubertal onset, hypogonadal hypogonadism.
23yo M with chronic productive cough and wife with difficulty becoming pregnant. Apical impulse not present on L side.
Kartagener's syndrome. Sperm immotility, bronchiectasis. Dynein defect leads to immotile cilia. Autosomal recessive. Dextrocardia.
29yo M with painless lymph node in the axilla, normochromic, normocytic anemia, and elevated ESR. Next test?
Node biopsy. Hodgkin's --> Reed-Sternberg. Non-Hodgkins' --> spectrum small lymphocytic (low-grade) to large cell centroblastic (high grade). A2 staging; I=nodes 1 region II=2 regions, same side III=nodes both sides hemidiaphragm, IV=diffuse.
17yo F with amenorrhea, lack of breast development, and harsh systolic murmur.
Turner's. Short stature, webbed neck, shield-like chest with wide-spaced nipples. High serum FSH/LH; no Barr bodies on buccal smear. Get US pelvis --> streak ovaries. Karyotype 45, XO; sometimes mosaicism --> skeletal, CV, horshoe kidney.
64yo M with testicular swelling.
Lymphoma of testis. #1 testicular neoplasm in elderly.
55yo F with pruritus and jaundice that progressed over 3 years.
Primary biliary cirrhosis. Anti-mitochondrial Abs. Assoc. c Sjogren's, Raynaud's, thyroid dx, Addison's, RA, fibrosing alveolitis, dermatomyositis, scleroderma. Women 9:1, age 40-60. ERCP reveals normal intra/extrahepatic bile ducts. Gallstones common.
Unusual causes of lower GI bleeding?
AV fistulae, hereditary-hemorrhagic-telangiectasias (Osler-Weber-Rendu), angiodysplasia, vasculitis, amyloidosis. Meckel's, blood disorders (hemophilia, thrombocytopenia), rupture of AAA into bowel.
19yo F with diarrhea and bullous skin eruption.
Dermatitis herpetiformis. Gluten senstive enteropathy (celiac disease) + bullous skin eruption. Both may respond to gluten-free diet.
55yo M with anemia, leukopenia, thrombocytopenia and bone pain.
Multiple myeloma. Infections (70%), renal failure (50%), bone pain (100% with progression), bleeding (10%). Very high ESR, rouleaux RBCs. Diagnosis = 2 of following: Bence Jones, bone marrow plasma cells, punched-out bone lesions.
30yo M with anesthesia and weakness in both arms, occipital HAs, and stiff gait.
Syringomyelia. MR/CT --> cystic dilatation within central cervical cord. Hydromelia is lined by ependymal tissue, syringomyelia is not.
Approach to malabsorption?
1. confirm impaired absorption (fecal fat, Schilling test) 2. Identify specific deficiencies (CBC, Fe, iron, folate, B12, PT/PTT, vit D 3. establish cause.
28yo F with resolving meningitis develops polyuria.
Central diabetes insipidus. Most frequently associated with craniopharyngioma. Rarely with anterior pituitary disease. Test = water deprivation and measure urine osmolality.
Upper GI bleeding?
GUMBLEEDING = Gastritis, Ulcer, Mallory-Weiss, B, L, Esophagitis, Esophageal varices, angioDysplasia, Infection, N, GERD.
54yo F with RA develops Bence Jones proteinuria.
Monoclonal gammopathy of uncertain significance (MGUS). Monoclonal paraprotein without B-cell tumor. Assoc c hepatitis, leptospirosis, autoimmune dx. Follow closely 10-20% develop myeloma. Rx: None necessary. Close f/u.
35yo F with bloody nipple discharge originating from one of the duct openings.
Papilloma of the breast. Benign proliferation of ductal epithelial tissue. #1 cause of serous / bloody nipple discharge.
2yo with frontal bossing and "hair-on-end" appearance on skull x-ray. Has painful swelling of the fingers.
Sickle cell. Salmon-patch retinal hemmorhages. Homozygotes affected, heterozygotes asymptomatic until exposed to low O2 tension. Test with Hb electrophoresis and sickling test.
13yo M with recurrent bleeding episodes and normal factor VIII levels and activity assay.
Christmas disease. Factor IX deficiency. Complications of both include: chronic degenerative joint dx, compression neuropathy, renal pelvic / ureteral obstruction, intestinal obstruction.
H. pylori infection.
Association with duodenal ulcer (100%) > gastric (80%) > duodenitis/gastritis. Increased risk of gastric cancer and MALT lymphoma. Test: serology or urease breath test.
61yo M with new onset atrial fibrillation, heart failure, and 20lb weight loss over 12 months.
"Masked" hyperthyroidism. Commonly due to toxic multinodular goiter. Lacks typical Grave's features.
60yo F with foul-smelling, blood-tinged, purulent vaginal discharge. Tumor projecting from cervical os on speculum exam.
Leiomyosarcoma. CT = large complex mass in uterus. Biopsy = spindle-shaped cells with many mitotic cells. Rx: adriamycin, progestins, combination therapy. Aggressive malignant tumor of the myometrium, can arise from leiomyoma or de novo.
31yo M with jaundice, pruritus, and RUQ pain. Markedly elevated AP with slight elevation in AST and ALT.
Primary sclerosing cholangitis. ERCP shows patchy dilatation and stricturing of biliary tree. High risk of ulcerative colitis. Progresses to hepatic cirrhosis. Risk = ascending cholangitis. HLA B8, DR2, DR3.
Poor growth syndromes?
Rare congenital syndromes, nutritional/emotionald deprivation, GH deficiency (fat with immature facies and genitals), hypothyroidism, Cushing's. "Fat and short" likely endocrine. Turner's 45XO, and Noonan's (45XO/XY mosaic).
25yo F with right breast lump that is small, encapsulated, and freely moveable.
Fibroadenoma. #1 benign breast tumor in young women; sometimes enlarges during pregnancy or normal menstrual cycles. Mammogram = "popcorn calcifications".
Teeth and gums
Blue line at tooth/gum margin = lead; gingivae swollen and purplish = scurvy; hyperplastic gingivitis = phenytoin, cyclosporin, and calcium antagonists; yellow staining = tetracycline.
25yo with weakness, droopy eyelids, double vision, and dysphonia.
Myastenia gravis. Autoimmune c Abs to acetylcholine receptor subunits. Thymoma is present in 20% of cases.
78yo M with fever, anemia, fatigue, petechiae and recent lacunar stroke.
Waldenstrom's macroglobulinemia. Old men 2:1. Normochromic normocytic anemia. Rouleaux RBCs. ESR elevated. Serum M protein, cryoglobulin, and cold-reacting Abs. Hyperviscosity --> stroke, MI, Raynaud's, pyoderma gangrenosum.
22yo F with abnormal Pap smear and no history of irregular menstrual, postcoital bleeding, or vaginal discharge.
Cervical carcinoma in situ.
Causes of cold antibody autoimmune hemolytic anemia.
Infectious mononucleosis, mycoplasma pneumonia, malaria, idiopathic (IgM paraprotein).
25yo with eosinophilia, chronic cough, and distal small bowel obstruction.
Ascaris lumbricoides. Larvae migrate to lung, small bowel obstruction are complications.
27yo with inability to conceive, painful intercourse, and painful menses.
Endometriosis = extrauterine endometrial tissue. Can be located in various locations with unique symptoms , most frequently bilateral ovaries = chocolate cysts.
52yo nulliparous F with painles lump in breast. PE reveals fixed, hard, nontender mass with retraction of overlying skin and palpable ispilateral nodes.
Infiltrating ductal CA = #1 breast cancer. Risk = family hx, estrogen "exposure", atypical hyperplasia, previous breast cancer. Fibrosis with induration = desmoplastic reaction. Rx = surgery, tamoxifen if E receptor positive.
Stimulation test and markers:
31yo M with fatigue, weight loss, GI disturbances, and dark spots on the inside of his cheeks.
Addison's disease. Autoimmmune or rarely TB, granulomatous disease, metastases. Other causes of adrenal insufficiency include withdrawal of steroid therapy, Waterhouse-Friderichsen, anticoagulant therapy. Hyponatremia, hyperkalemia, vitiligo.
25yo M with progressive dysphagia and no past medical history.
Esophageal ring. Occur at or near GE junction. Cause unknown.
Diarrhea: chronic GI disorders
Ischemic colitis, malabsorption, irritable bowel, inflammatory bowel disease
GI utility of US and CT?
Liver, pancreas, and biliary tract.
43yo M with thick skin, broad nose, and prominent supraorbital and nuchal ridges.
Acromegaly. Uncommon. May occur in MEN1. Large spade-like hands. Enlargement of the tongue. Hoarse voice. Cardiomegaly, heart failure, and malignancy causes death. Tufting of terminal phalanges on x-ray.
Fluid deprivation:
56yo F with history of breast CA with pelvic mass identified on routine physical exam.
Ovarian carcinoma. Serous type most common, often bilateral and advanced at diagnosis. Elevated CA-125, psammoma bodies.
38yo F presents with melena and epigastric pain. Barium study revealed rugal hypertrophy.
Menetrier's disease (giant hypertrophic gastritis). Assoc. with protein-losing enteropathy.
29yo Vietnames F with nausea, vaginal bleeding, dyspnea, and hemoptysis.
Choriocarcinoma. Can develop during normal pregnancy, s/p hydatidiform mole, or previous spontaneous abortion. Elevated hCG.
64yo with CAD deficiency develops diarrhea, vomiting, and vague abdominal pain that rapidly progresses to hematochezia and severe abdominal pain.
Acute mesenteric ischemia.
19yo M with recurrent DVTs for one year.
Antithrombin III deficiency. Diagnosis = antithrombin level. Rx: coumadin. AT-III activity enhanced by binding heparin (don't use heparin to treat AT-III deficiency). Inherited disorder, screen family. Onset in late teens typical.
64yo peanut farmer with jaundice, weight loss, and right upper quadrant pain.
Hepatocellular CA. Test for alpha-fetoprotein. Ultrasound / CT to evaluate.
40yo M, now unresponsive, found in bathroom at work projectile vomiting. Said he was "seeing double".
Cerebral aneurysm. Papilledema, CNIII palsy. Congenital Berry aneurysms associated with polycystic kidney disease, AV malformation. Cause subarachnoid hemmorhage. ACOMM > PCOMM > POST CEREBRAL.
25yo W with amenorrhea for 6 weeks and development of pelvic pain for 1 day.
Ectopic pregnancy. Risk factors = previous tubal surgery, tubal ligation, endometriosis, previous ectopic pregnancy, ovulation induction, pelvic inflammatory disease. Test of choice = hCG and ultrasound (can get transvaginal US if needed).
31yo F with morbilliform rash and jaundice. Recently seen by a neurolgist for epilepsy.
Drug-induced hepatitis. Phenytoin (anti-epilepsy).
Common causes of amenorrhea?
Hyperprolactinemia, weight loss, anorexia nervosa, autoimmune associated ovarian failure (Addison's or other).
49yo alcoholic with confusion, stupor, and nystagmus following 5% dextrose infusion.
Wernicke's encephalopathy. Due to thiamine deficiency.
Gonadotropin releasing hormone: FSH, LH, spermatogenesis, ovulation
46yo M with HAs in the morning, seizures, and CT showing nodular calcifications in a frontal lobe mass.
Oligodendroglioma. Usually low grade, but may be anaplastic. More sensitive to chemo than astrocytomas. Calcification in 90% of cases.
68yo F with itchy, painless scaling and oozing of erythematous nipple.
Paget's carcinoma. Characteristically a scally skin lesion of areola and nipple arising from ductal adenocarcinoma.
19yo M with wide-based gait, clubfoot, and lateral curvature of spine.
Friedreich's ataxia. #1 hereditary ataxia. Auto-dom, chromosome 9. Degeneration of doral root ganglia --> prorioceptive loss, areflexia, ataxia, Babinski's. Also causes visual loss, hypertrophic cardiomyopathy.
24yo M with recurrent DVTs. Family history of DVTs affecting mother and sister.
Factor V Leiden. #1 thrombophilia. 20-40% of pts c DVTs esp. young ages. Auto dom: homoz's with 80x risk, hetero 7x risk. Incr risk in pregnancy & contraceptive use. Mutation eliminates protein C cut site. Rx: coumadin for homos, prophy for hetero's.
23yo M goes to family doctor for evaluation of sterility. Found to have height greater than arm span, crown-pubis length greater than pubis-floor.
Klinefelter's. 47XXY. Male hypogonadism. High incidence of breast CA, COPD, DM, mild mental retardation. PE: small testes, gynecomastia, "eunuchoid" body proportions. Increased gonadotropin with reduced testosterone.
26yo M with flat nose, and single palmar crease. Had silver spots on iris at birth.
Down's. Epicanthal folds, Brushfield spots, Simian crease. Double bubble on KUB: dilated stomach proximal duodenum d/t duodenal atresia. Hypoplastic phalanges in 5th digits (acromicria). Usually nondisjunction; Robertsonian translocation or mosaicism.
29yo HIV + F with eosinophilia, liver, heart, and renal failure.
Strongyloidiasis. Can result in systemic invasion in IC'd pts.
Newborn with ambiguous genitalia, clitoral hypertrophy, and partial fusion of labioscrotal folds.
Congenital adrenal hyperplasia. 21-hydroxylase defiency. Excess androgenic cortisol precursors.
55yo F previously treated for carcinoma of cervix, now with nausea, vomiting, and rectal bleeding.
Radiation colitis. Intestinal ischemia may develop due to endarteritis obliterans. Sometimes pseudo-obstruction. Barium study = thickening of mucosal folds, narrowing of lumen. Symptoms due to rapid transit time and malabsorption.
Diarrhea: bacterial invasive
E. coli (enteroinvasive), Shigella, Salmonella, Yersinia enterocolitica, Vibrio parahemolyticus, Campylobacter jejuni.
Diarrhea: drugs
laxatives, antacids with magnesium
59yo F with pain and swelling in breast with erythematous overlying skin with peau d'orange appearance.
Inflammatory carcinoma of breast. Highly malignant with early and widespread metastases.
Diarrhea with systemic illness
Salmonella typi (enteric fever with diarrhea as late symptom)
14yo M with short stature, history of polyuria, and peripheral vision loss.
Craniopharyngioma. #1 supratentorial tumor in kids. Derived from Rathke's pouch remnants. Common cause of growth retardation, diabetes insipidus, bitemporal hemianopia, and headache d/t obstructive hydrocephalus. Bimodal with peak in fifth decade.
88yo M with purpura over extensor aspect of both hands. CBC reveals not abnormality.
Senile purpura. Benign disease of elderly, characteristically extensor hand surfaces, forearms, and neck. Defect in collagen support of dermal cappillaries. No treatment available. Cosmetic consequence only.
45yo F with gross difference in size of her breasts with sensation of fullness but no pain. Exam reveals large, firm mass.
Cystosarcoma phyllodes. Less common benign tumor of breast. Mass tends to be mobile and is well circumscribed. Path = cystic spaces on cut section, producing recesses and longitudinal openings with 'leaflike' (phyllodes) appearance.
Diarrhea: bacterial toxin
E. coli (enterotoxigenic), Vibrio cholerae, Staph aureus, Clostridium perfringens, Clostridium difficile, Clostridium botulinum, Bacillus cereus.
GI utility of plain film?
Demonstrate dilatation (toxic megacolon), obstruction.
38yo M with symmetric muscle weakness started in feet, now involving legs and shoulders. Had diarrhea and fever.
Guillain-Barre. Symmetrical proximalweakness / flaccidity. Increased CSF protein concentration without cellular increase. VDRL negative. Decreased nerve conduction velocity. Preceeded by GI/respiratory/EBV/Campylobacter/CMV +/- respiratory paralysis.
7yo boy with diminished visual acuity and long arms, legs, and fingers.
Marfan's syndrome. Arm span > height, arachnodactyly, ectopia lentis, severe myopia, high-arched palate, flat feet = pes planus, aortic insufficiency, pectus excavatum. Rx: beta-blockers, endocarditis prophy. Auto-dom. fibrillin = elastin scaffold.
20yo F with chronic left lower quadrant pain and left adnexal mass on exam.
Follicular ovarian cyst. #1 cause of ovarian enlargement. Test = US to look for cyst. Rx: Follow-up ultrasound (many disappear spontaneously); laparoscopic removal if persistent.
Diagnosis of Cushing's syndrome.
Low dose 48hr dex suppression. Screening with overnight dex suppresion test or 24hr urinary free cortisol. If plasma ACTH is undetectable, usually adrenal tumor. Pituitary-dependent disease suppresses, whereas adrenal tumors and ectopic ACTH does not.
Causes of purpura.
Senile, Osler-Weber-Rendu (hereditary haemorrhagic telangiectasia), giant cavernous hemangioma (can cause DIC), Ehler's-Danlos, Marfan's, HSP, scurvy, Cushing's, steroid use, uremia, liver dx.
60yo M with HA worse in morning, nausea, and vomiting for six weeks.
Glioblastoma multiforme. CT = irregular enhancing left-sided mass with necrotic center; mass effect and surrounding edema.
31yo M with HIV and odynophagia.
Esophagitis due to candidia, herpes, or CMV.
48yo F with develops increasing pigmentation following bilateral adrenalectomy for Cushing's disease.
Nelson's syndrome. May follow adrenalectomy if ACTH production continues in excess.
19yo F horseback rider was thrown off horse. Lost consciousness then recovered. Now with HA, confusion, and weakness of left side with projectile vomiting.
Epidural hematoma. "Lucid interval" is classic. Signs = bradycardia, papilledema, mydriasis and CNIII palsy on ipsilateral,extensor plantar response and weakness on contralateral. CT --> lens-shaped, convex extra-axial fluid collection btwn dura & skull.
CRH: ACTH, cortisol
9yo F with recurrent URIs, diarrhea, and failure to thrive.`
CF. High Cl sweat test.CXR: brochiectasis. Pseudomonasand staph infections of the lung. Mucous plugging, small bowel obstruction = meconium ileus. Rx: pulmozyme (DNAse breaks up airway). Azithromycin. Inhaled tobramycin (Tobi). Male sterility.
Diarrhea: viral
Rotavirus, Norwalk, Adenovirus.
Elevation of prolactin level due to physiolgic cause?
Sleep, stress, nipple stimulation, coitus, pregnancy, suckling.
65yo M with sudden severe HA and hemiplegia. Now incontinent.
Hypertensive stroke.
Causes of cirrhosis.
Glycogen storage, Fanconi's, alpha-1-antitrypsin (neonatal hepatitis with cirrhosis in childhood), cardiac cirrhosis (late complication of R heart failure), methotrexate, hereditary hemorrhagic telangiectasias, ulcerative colitis and Crohn's.
18yo M with small firm testes, gynecomastia, and female distribution of body hair.
Klinefelter's. Infertile, may be unusually tall, 47XXY.
58yo F from central Africa with large goiter.
Endemic goiter. Can be euthyroid. Due to iodine deficiency.
Cigar shaped erythrocytes.
Hereditary elliptocytosis. Usually asymptomatic.
Drug induced aplastic anemia.
Chloramphenicol, chlorpropamide, chlorpromazine, carbimazole, carbamazepine, gold salts, methotrexate, phenytoin.
Diarrhea: secretory
Vibrio cholera, campylobacter, E. coli, Salmonella.
Causes of malabsorption.
Stomach: post-gastrectomy dumping, ZE, pernicious anemia. Hepatic/biliary: bil. obstr. / cholestasis. Pancreas: CF, pancreatitis, CA. Sm. bowel: celiac, crohn's, removal of sm. bowel, fistulae/blind loops, infection, radiation, lymphoma, drugs, whipple's.
18yo M with small purple skin lesions following URI two weeks ago.
ITP. Abrupt onset. Viral illnesses, drugs = thiazides, gold, carbamazepine, phenothiazines, quinine, rifampicin, valproate, sulphonamides, penicillins. Drug binds pltlt or drug binds plasma protein, forms immune complex, binds pltlt. Rx: steroids.
15yo M with acute hot, red, swollen knee and easy bruising.
Hemophilia. Prolonged aPTT, normal PT. Rx: factor VIII replacement. X-linked recessive.
Causes of warm antibody autoimmune hemolytic anemia.
Lymphoma, leukemia (CLL), SLE, HIV. Causes spherocytes (also seen in congenital spherocytosis). Rx: prednisolone may induce remission; consider splenectomy.
Test for bacterial overgrowth?
glycochocolate breath test, based on deconjugation of radiolabeled bile acid and exhalation of labeled CO2.
Apthous ulcers?
poor dental hygeine, gluten enteropathy, inflammatory bowel dx, Behcet's.
Diarrhea: parasites
Giardia lamblia, Cryptosporidium parvum, Entamoeba histolytica.
34yo M with facial plethora (redness), conjunctival suffusion, and splenomegaly.
Polycythemia. True or d/t excess EPO --> polycystic kidneys, renal CA / cysts, chronic glomerulonephritis, liver disease, hepatocellular CA, overian CA, bronchial CA. Hypoxia, lung disease, congenital heart disease, smoking. Enlarged retinal vessels.
GI disease with finger clubbing?
malabsorption, small intestinal disease, and cirrhosis.
25yo black M develops painful joints and severe stomach pain one day into ski trip in the French Alps.
Sickle cell trait. Crisis at low O2 tensions.
53yo M with abdominal pain and diarrhea with blood. Plain abdominal film reveals "thumbprinting" pattern in the descending colon and narrowing of the colonic lumen.
Colonic ischemia. More common than mesenteric ischemia, typically affects splenic flexure and other watershed areas.
71yo M smoker with progressive dysphagia.
Esophageal CA
17yo M with tremor, athetoid movements, and elevated LFTs.
Wilson's disease. Low ceruloplasmin. Kayer-Fleischer ring in cornea. Rx: penicillammine chelation therapy.
49yo M with progressive weakness, difficulty speaking, and fasciculations.
ALS. Bilateral hand wasting, DTRs absent in upper limbs, muscle weakness, + Babinski sign (upgoing great toe) = upper motor neuron sign. Involves both upper and lower motor neurons. CSF normal. CT/MRI-brain normal.
Glucacon: GH, blood glucose
18yo M with wide-based gait and headaches. Father died of renal cell carcinoma at young age.
von Hippel-Lindau. Auto-dom, renal cell CA + renal, hepatic, pancreatic cysts + cerebellar ataxia.
Gastritis causes?
Infectious = rotavirus, norwalk, E. coli, H. pylori. Drug/chemicals = aspirin and other NSAIDs, alcohol. Asymptomatic chronic = elderly persons often with H. pylori. Atrophic = autoimmune (positive parietal cell Abs) with pernicious anemia.
59yo F with retro-orbital HA and diplopia. Diagnosed with lung cancer.
Metastatic dx. Intracranial mets from lung, breast, GI, GU, CA, and melanoma.
Causes of asplenia (anatomic or functional).
SLE, sickle cell, celiac, lymphoma, post-surgical. Risk of infection with S. pneumo, H. flu, N. meningitidis, malaria.
Spherocytes on peripheral smear.
Perform osmotic fragility test. Spectrin defect = hereditary spherocytosis.
58yo F with recurrent episodes of thrombophlebitis in the legs and arms.
Pancreatic CA. Thrombophlebitis may preceed diagnosis by many months.
48yo M with recurrent abdominal pain after eating. Also has hypercholesterolemia.
Chronic mesenteric ischemia (intestinal angina).
16yo M with massive hematomas and no history of trauma.
Differential includes: Christmas dx, von Willebrand's, hemophilia, or uncontrolled anticoagulation.
6yo F with generalized skin rash following mild URI. Rash became purpuric after one day.
HSP. Drugs, food, insect bites, infections. Purpura +/- glomerulonephritis. Immune complex deposition. Children > adults. Glomerulonephritis in 33%.
23yo M bitten by snake now with purpuric skin lesions.
DIC. Causes include meningococcal, snakebite, staph septicemia, obstetric, malignancy (bronchus, pancreas, ovary, prostate, leukemias), shock, massive transfusion, vasculitis (HUS/TTP), bypass, cavernous hemangiomas.
73yo F with hypothermia and altered mental status and history of hypothyroidism.
Myxedema coma. marked by hypothermia, cardiac failure, altered MS, convulsion. Mortality 50%.
44yo F with diffuse goiter, pretibial myxoedema, and tachycardia.
Grave's. IgG antibodies against TSH receptor = thyroid stimulating Abs (TSAb). Exopthalmos, lid lag, periorbital puffiness, increased lacrimation, conjunctival edema, ophthalmoplegia, loss of visual acuity.
Most common goitrous hypothyroidism?
Hashimoto's. Women >> Men. Older women > younger.
34yo M with multiple myeloma develops reticular skin infarction, necrosis, and ulceration.
Cryoglobulinaemia. Associated with paraproteinemias, RA, SLE, mononucleosis, lymphoma, PBC, and HCV. Small vessel vasculitis that may involve kidneys = renal failure. Rx: plasmapheresis.
Thyrotropin releasing hormone: TSH, T3, T4, prolactin, GH
Most common cause of iron deficiency anemia worldwide.
Enlarged tongue?
Acromegaly, myxoedema, amyloidosis, motor neuron disease.
GI utility of angiography?
GI bleeding of obscure cause or suspected mesenteric ischemia.
45yo F with anemia, bone tenderness, and abdominal distension. Smear demonstrates blasts at all stages of maturation. Recent DVT.
CML. Philadelphia chromosome 22 bcr-abl translocation 9:22 (95% of cases). Complications = hyperviscosity (rx with leukophoresis).
34yo F with short stature, large head, prominent forehead and disproportion of body and limbs.
Achondroplasia. Autosomal dominant. #1 short stature with abnormal proportions.
60yo F with diffuse lymph node enlargement and smear with increased lymphocytes, smudge cells.
CLL. Most common leukemia in US and Europe. Monoclonal transformation of B cells. Diagnosis = persistent lymphocytosis with increased lymphs. Warm antibody hemolytic anemia may result. No rx if asymptomatic.
Causes of sore tongue?
Systemic: folate/B12/Fe deficiency, collagen-vascular dx, diabetes. Local: smoking, fractured tooth/dentures/crowns, candidiasis, dry mouth.
39yo F with heavy and frequent periods, occasionally painful.
Leiomyoma. #1 tumor of uterus, most common tumor in women. Estrogen-dependent. US reveals multiple heterogenous masses, 95% intramural myometrium location, round, firm, well circumscribed.
38yo F with celiac disease with chronic diarrhea and weight loss. Has been strictly adhering to gluten-free diet.
Intestinal lymphoma. Increased risk in celiac disease.
Diagnosis of celiac disease?
Biopsy! Flattening of vili. Definative diagnosis requires trial of gluten-free diet.
27yo F marathon runner with painful lump breast. Mammography reveals irregular mass with focal areas of calcification.
Fat necrosis. Indurated lesion with retraction of overylying skin. Unilateral localized process associated with trauma, breast biopsy, and radiation. Easy to confuse with CA... pain is the key distinguishing feature.
62yo M with rapidly progressing decline in cognitive function, somnolence, and clonus on exam.
Creutzfeld-Jakob. Subacute spongiform encephalopathy. Risk = dura mater, corneal transplants, cadaveric growth hormone, neurosurgical contamination. Lithium OD may mimic presentation.
30yo F with hypothyroidism and rheumatoid arthritis develops jaundice.
Autoimmune hepatitis. Type I = history or family history of autoimmune disease. Type 2 = anti-liver and kidney microsomal autoantibodies, occurs in younger children. Type 3/4 = soluble liver antigen, type 4 ill-defined similar clinical as type 1.
53yo homeless man with bleeding gums, purpura, and perifollicular bleeding.
Scurvy = vitamin C deficiency.
34yo M with severe recurrent peptic ulcer, diarrhea, and weight loss.
Zollinger-Ellison. Gastrin producing tumor associated with MENI (usually pancreatic). Diagnosis = high gastrin level and high basal secretion of acid.
29yo F with SLE and history of DVTs develops increased skin pigmentation and profound hypekalemia.
Primary adrenal insufficiency. Antiphospholipid syndrome can destroy adrenal glands.
Insulin hypoglycemia test: GH, cortisol, blood glucose
15yo F found on pelvic exam to have bilateral masses in the labia. LH levels is high.
Testicular feminization syndrome. XY male with X-linked deficiency of androgen receptors.

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