Clinical presentation vs. Diagnosis/disease
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| Abdominal pain, ascites, hepatomegaly | Budd-Chiari syndrome (posthepatic venous thrombosis)
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| Achilles tendon xanthoma | Familial hypercholesterolemia (decrease LDL receptor signaling)
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| Adrenal hemorrrhage, hypotension, DIC | Waterhouse-Friderichsen syndrome (meningococcemia)
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| Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints | Marfan's syndrome (fibrillin defect)
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| Athlete with polycythemia | Erythropoietin injection
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| Back pain, fever, night sweats, weight loss | Pott's disease (vertebral tuberculosis)
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| Bilateral hilar adenopathy, uveitis | Sarcoidosis (noncaseating granulomas)
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| Blue sclera | Osteogenesis imperfecta (collagen defect)
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| Bluish line on gingiva | Burton's line (lead poisoning)
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| Bone pain, bone enlargement, arthritis | Paget's disease of bone (increase osteoblastic and osteoclastic activity)
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| Bounding pulses, diastolic heart murmur, head bobbing | Aortic regurgitation (DE mussets sign)
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| "Butterfly" facial rash and Raynaud's phenomenon in a young female | Systemic lupus erythematosus
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| Cafe-au-lait spots, Lisch nodules (iris hamartoma) | Neurofibromatosis type I (+ pheochromoctoma, optic gliomas)
Neurofibromatosis type II (+ bilateral acousic neuromas)
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| Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty | McCune-Albright syndrome (mosaic G-protein signaling mutation)
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| Calf pseudohypertrophy | Muscular dystrophy (most commonly Duchenne's): X-linked recessive deletion of dystrophin gene
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| "Cherry-red spot" on macula | Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
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| Chest pain on exertion | Angina (stable: moderate exertion; unstable: minimal exertion)
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| Chest pain, pericardial effusion/friction rub, persistent fever following MI | Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
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| Child uses arms to stand up from squat | Gower's sign (Duchenne muscular dystrophy)
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| Child with fever develops red rash on face that spreads to body | "Slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19
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| Chorea, dementia, caudate degeneration | Huntington's disease (autosomal-dominant CAG repeat expansion)
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| Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria | McArdle's disease (muscle glycogen phophorylase deficiency)
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| Cold intolerance | Hypothyroidism
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| Conjugate lateral gaze palsy, horizontal diplopia | Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
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| Continuous "machinery" heart murmur | PDA (close with indomethacin; open with misoprostol
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| Cutaneous/dermal edema due to connective tissue deposition | Myxedema (caused by hypothyroidism, Graves' disease [periorbital])
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| Dark purple skin/mouth nodules | Kaposi's sarcoma (usually AIDS patients [gay men]: associated with HHV-8)
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| Deep, labored breathing/hyperventilation | Kussmaul breathing (diabetic ketoacidosis)
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| Dermatitis, dementia, diarrhea | Pellagra (niacin [vitamin B3] deficiency)
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| Dilated cardiomyopathy, edema, polyneuropathy | Wet beriberi (thiamine [vitamin B1] deficiency)
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| Dog or cat bite resulting in infection | Pasteurella multocida (cellulitis at inoculation site)
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| Dry eyes, dry mouth, arthritis | Sjogren's syndrome (autoimmune destruction of exocrine glands)
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| Dysphagia (esophageal webs) glossitis, iron deficiency anemia | Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
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| Elastic skin, hypermobility of joints | Ehlers-Danlos syndrome (type III collagen defect)
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| Enlarged, hard left supraclavicular node | Virchow's node (abdominal metatasis)
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| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells | Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides)
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| Facial muscles spasm upon tapping | Chvostek's sign (hypocalcemia)
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| Fat, female, forty, and fertile | Acute cholelithiasis (bile duct blockage)
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| Fever, chills, headache, myalgia following antibiotic treatment for syphilis | Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
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| Fever, cough, conjunctivitis, coryza, diffuse rash | Measles (Morbillivirus)
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| Fever, night sweats, weight loss | B symptoms (lymphoma)
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| Fibrous plaques in soft tissue of penis | Peyronie's disease (connective tissue disorder)
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| Gout, mental retardation, self-mutilation behavior in a boy | Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
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| Green-yellow rings around peripheral cornea | Kayser-Fleischer rings (copper accumulation from Wilson's disease)
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| Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands | Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increase cancer risk)
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| Hepatosplenomegaly, osteoporosis, neurologic symptoms | Gaucher's disease (glucocerebrosidase deficiency)
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| Hereditary nephritis, sensorineural hearing loss, cataracts | Alport syndrome (mutation in α chain of collagen IV)
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| Hypercoagulability (leading to migrating DVTs and vaculitis | Trousseau's sign (adenocarcinoma of pancreas or lung)
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| Hyperphagia, hypersexuality, hyperorality, hyperdocility | Kluver-Bucy syndrome (bilateral amygdala lesion)
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| Hyperreflexia, hypertonia, positive Babinski sign | UMN damage
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| Hypertension, hypokalemia, metabolic alkalosis | Conn's syndrome
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| Hyporeflexia, hypotonia, atrophy | LMN damage
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| Hypoxemia, polycythemia, hypercapnia | "blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
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| Indurated, ulcerated genital lesion | Nonpainful: chancre (1° syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)
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| Infant with failure to thrive, hepatosplenomegaly | Niemann-Pick disease (genetic sphingomyelinase deficiency)
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| Infant with hypoglycemia, failure to thrive, and hepatomegaly | Cori's disease (debranching enzyme deficiency)
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| Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect | Edwards' syndrome (trisomy 18)
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| Keratin pearls on a skin biopsy | Squamous cell carcinoma
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| Large rash with bull's-eye appearance | Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
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| Lucid interval after traumatic brain injury | Epidural hematoma (middle meningeal artery rupture)
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| Male child, recurrent infections, no mature B cells | Bruton's disease (X-linked agammaglobulinemia)
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| Mucosal bleeding and prolonged bleeding time | Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
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| Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth | Gardner's syndrome (subtype of FAP)
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| Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance | Pompe's disease (lysosomal α-1, 4-glucosidase deficiency)
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| Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis | Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)
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| Neonate with arm paralysis following difficult birth | Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
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| No lactation postpartum, absent menstruation, cold intolerance | Sheehan's syndrome (pituitary infarction)
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| Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia | Multiple sclerosis
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| Oscillating slow/fast breathing | Cheyne-Stokes respirations (central apnea in CHF or increase intracranial pressure)
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| Painful blue fingers/toes, hemolytic anemia | Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
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| Painful, pale, cold fingers/toes | Raynaud's syndrome (vasospasm in extremities)
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| Painful, raised red lesions on palms and soles | Osler's node (infective endocarditis)
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| Painless erythematous lesions on palms and soles | Janeway lesions (infective endocarditis)
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| Painless jaundice | Cancer of the pancreatic head obstructing bile duct
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| Palpable purpura on buttocks/legs, joint pain, abdominal pain (child) | Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
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| Pancreatic, pituitary, parathyroid tumors | MEN 1 (autosomal dominant)
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| Pink complexion, dyspnea, hyperventilation | "Pink puffer" (emphysema: centroacinar [smoking] panacinar [α1-antitrypsin deficiency])
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| Polyuria, acidosis, growth failure, electrolyte imbalances | Fanconi's syndrome (proximal tubular reabsorption defect)
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| Positive anterior "drawer sign" | Anterior cruciate ligament (ACL) injury
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| Ptosis, miosis, anhidrosis | Horner's syndrome (sympathetic chain lesion)
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| Pupil accommodates but doesn't react | Argyll Robertson pupil (neurosyphilis)
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| Rapidly porgressive leg weakness that ascends (following GI/upper respiratory infection) | Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
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| Rash on palms and soles | Coxsackie A, 2° syphilis, Rocky Mountain spotted fever
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| Recurrent colds, unusual eczema, high serum IgE | Hyper-IgE syndrom (Job's syndrome: neutrophil chemotaxis abnormality)
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| Red "currant jelly" sputum in alcoholic or diabetic patients | Klebsiella pneumoniae
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| Red, itchy, swollen rash of nipple/areola | Paget's disease of the breast (represents underlying neoplasm)
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| Red urine in the morning, fragile RBCs | Paroxysmal nocturnal hemoglobinuria
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| Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma | von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
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| Resting tremor, rigidity, akinesia, postural instability | Parkinson's disease (nigrostriatal dopamine depletion)
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| Retinal hemorrhages with pale centers | Roth's spots (bacterial endocarditis)
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| Severe jaundice in neonate | Crigler-Najjar syndrome (cogenital unconjungated hyperbilirubinermia)
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| Severe RLQ pain with rebound tenderness | McBurney's sign (appendicitis)
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| Short stature, increase incidence of tumors/leukemia, aplastic anemia | Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
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| SIngle palm crease | Simian crease (Down Syndrome)
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| Situs inversus, chronic sinustis, bronchiectasis, infertility | Kartagener's syndrome (dynein arm defect affecting cilia)
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| Skin hyperpigmentation | Addison's disease (1° adrenocortical insufficiency causes increase ACTH and α-MSH production)
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| Slow, progressive muscle weakness in boys | Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)
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| Small, irregular red spots on buccal/lingual mucosa with blu-white centers | Koplik spots (measles; rubeola virus)
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| Smooth, flat, moist white lesions on genitals | Condylomata lata (2° syphilis)
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| Splinter hemorrhages in fingernails | Bacterial endocarditis
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| "Strawberry tongue" | Scarlet fever, Kawasaki disease, toxic shock syndrome
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| Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth | Turner syndrome (45XO, short stature, webbed neck, lymphedema)
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| Sudden swollen/painful big toe joint, tophi | Gout/podagra (hyperuricemia)
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| Swallen gums, mucous bleeding, poor wound healing, spots on skin | Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
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| Swollen, hard, painful finger joints | Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
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| Systolic ejection murmur (crescendo-decrescendo) | Aortic valve stenosis
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| Thyroid and parathyroid tumors, pheochromcytoma | MEN 2A (autosomal dominant ret mutation)
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| Thyroid tumors, pheochromocytoma, ganglioneuromatosis | MEN 2B (autosomal dominant ret mutation)
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| Toe extension/fanning upon plantar scrape | Babinski sign (UMN lesion)
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| Unilateral facial drooping involving forehead | Bell's palsy (LMN CN VII palsy)
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| Urethritis, conjunctivitis, arthritis in a male | Reactive arthritis associated with HLA-B27
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| Vascular birthmark (port-wine stain) | Hemangioma (benign, but associated with Sturge-Weber syndrome)
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| Vomiting blood following esophagogastic lacerations | Mallory-Weiss syndrome (alcoholic and bulimic patients)
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| "Waxy" casts with very low urine flow | Chronic end-stage renal disease
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| WBC casts in urine | Acute pyslonphritis
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| Weight loss, diarrhea, arthritis, fever, adenopathy | Whipple disease (Tropheryma whippelii)
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| "Worst headache of my life" | Subarachnoid hemorrhage
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