DISEASES Flashcards
Addison’s Disease
primary adrenocortical deficiency
Addisonian Anemia
pernicious anemia (antibodies to intrinsic factor or parietal cells –> low IF –> low vit B12 –> megaloblastic anemia)
Albright’s Syndrome
polyostotic fibrous dysplasia, precocious puberty, cafe au lait spots, short stature, young girls
Alport’s Syndrome
hereditary nephritis w/ nerve deafness
Alzheimer’s
progressive dementia
Argyll-Robertson Pupil
loss of light reflex constriction (contra or bilateral); “prostitute’s eye” (accommodates but not react); pathognomonic for tertiary syphilis; lesions pretectal region of superior colliculus
Arnold-Chiari Malformation
cerebellar tonsil herniation through foramen magnum
Barrett’s Esophagus
columnar metaplasia of lower esophagus; increased risk of adenocarcinoma; GERD
Bartter’s Syndrome
hyperreninemia
Becker’s Muscular Dystrophy
similar to Duchenne, but less severe (mutation, not deficiency, in dystrophin protein)
Bell’s Palsy
CN VII palsy
Berger’s Disease
IgA nephropathy causing hematuria in kids, usually following infection
Bernard-Soulier Disease
defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)
Berry Aneurysm
Circle of Willis (subarachnoid bleed); Anterior Communicating Artery; often associated w/ ADPKD
Bowen’s Disease
carcinoma in situ on shaft of penis (inc. risk of visceral CA)
Brill-Zinsser Disease
recurrences of rickettsia prowazaki up to 50 yrs later
Briquet’s Syndrome
somatization disorder; multiple physical complaints w/out physical pathology
Broca’s Aphasia
motor aphasia (area 44 & 45); intact comprehension
Brown-Sequard
hemisection of cord; contralateral loss of pain & temp; ipsilateral loss of fine touch, UMN ; ipsilateral loss of proprioception
Bruton’s Disease
X-linked agammaglobinemia (decrease B cells)
Budd-Chiari
post-hepatic venous thrombosis = abd pain, hepatomegaly, ascites, portal HTN, liver failure
Buerger’s Disease
acute inflammation of medium & small arteries of extremities –> painful ischemia –> gangrene; young / middle age men who smoke
Burkitt’s Lymphoma
small noncleaved cell lymphoma; 8:14 translocation; common in jaws, abd, retroperitoneal soft tissues; “starry sky appearance”
Caisson Disease
nitric gas emboli
Chagas’ Disease
trypansoma infection; cardiomegaly w/ apical atrophy, achlasia
Chediak-Higashi Disease
phagocyte deficiency = defect in microtubule polymerization; neutropenia, albinism, cranial & peripheral neuropathy; repeated infxn w/ strep & staph
Conn’s Syndrome
Primary Aldosteronism: HTN, retain Na & H20; hypokalemia (causing alkalosis); dec renin
Cori’s Disease
Type III Glycogenosis - glycogen storage disease
Creutzfeldt-Jakob
prion infection –> cerebellar & cerebral degeneration
Crigler-Najjar Syndrome
congenital hyperbilirubinemia (unconjugated); glucuronyl transferase deficiency; can progress to kernicterus; less severe form responds to Phenobarbital
Crohn’s
IBD; transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas; abd pain, D, fever, malabsorption, fistulaes
Curling’s Ulcer
acute gastric ulcer associated w/ severe burns
Cushing’s Disease
hypercorticism due to inc. ACTH from pituitary (basophilic adenoma); moon face, buffalo hump, purple striae, hirsutism, HTN, hyperglycemia
Cushing’s Syndrome
hypercorticism of all other causes (adrenal or ectopic); moon face, buffalo hump, purple striae, hirsutism, HTN, hyperglycemia
Cushing’s Ulcer
acute gastric ulcer associated w/ CNS trauma
de Quervain’s Thyroiditis
self-limiting focal destruction (subacute thyroiditis)
DiGeorge’s Syndrome
failure of 3rd & 4th pharyngeal pouches formation: thymus & parathyroid; thymic hypoplasia –> T-cell deficiency; hypoparathyroidism –> tetany
Down’s Syndrome
Trisomy 21 or translocation; simian crease
Dressler’s Syndrome
post-MI fibrinous pericarditis (autoimmune)
Dubin-Johnson Syndrome
congenital hyperbilirubinemia (conjugated) - bilirubin transport is defective; striking brown-to-black discoloration of liver
Duchenne Muscular Dystrophy
deficiency of dystrophin protein –> MD; X-linked recessive
Edward’s Syndrome
Trisomy 18; rocker-bottom feet, low ears, small lower jaw, heart dz
Ehler’s Danlos
defective collagen
Eisenmenger’s Complex
late cyanotic shunt ( R –> L )
Erb-Duchenne Palsy
trauma to superior trunk of brachial plexus; “waiter’s tip”
Ewing Sarcoma
malignant undifferentiated round cell tumor of bone in boys
Eyrthroplasia of Queyrat
carcinoma in situ on glans penis
Fanconi’s Syndrome
impaired proximal tubular reabsorption due to lead poisoning or tetracycline
Felty’s Syndrome
rheumatoid arthritis, neutropenia, splenomegaly
Gardner’s Syndrome
adenomatous polyps of colon, osteomas & soft tissue tumors
Gaucher’s Disease
lysosomal storage disease; HSM, femoral head & long bone erosion, anemia
Gilbert’s Syndrome
benign congenital hyperbilirubinemia (unconjugated) = dec. glucuronyl transferase activity
Glanzmann’s Thrombasthenia
defective glycoproteins on platelets = deficient platelet aggregation
Goodpasture’s
autoimmune; antibodies to glomerular & alveolar basement membranes; men in 20’s
Grave’s Disease
autoimmune hyperthyroidism; IgG Ab reactive w/ TSH receptors; low TSH &TRH - high T3/T4
Guillain-Barre
polyneuritis following viral infection / autoimmune; ascending muscle weakness & paralysis
Hamman-Rich Syndrome
idiopathic pulmonary fibrosis; honey-combing lung
Hand-Schuller-Christian
chronic progressive histiocytosis
Hashimoto’s Thyroiditis
autoimmune hypothyroidism; may have transient hyperthyroidism; low T3/T4 & high TSH
Hashitoxicosis
initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism
Henoch-Schonlein Purpura
hypersensitivity vasculitis = allergic purpura; hemorrhagic urticaria w/ fever, arthralgias, GI & renal involvement; associated w/ URI
Hirschprung’s Disease
aganglionic megacolon
Horner’s Syndrome
ptosis, miosis, anhidrosis
Huntington’s (Chromosome 4)
progressive degeneration of caudate nucleus, putamen (striatum) & frontal cortex; dec. GABA
Jacksonian Seizures
epileptic events originating in the primary motor cortex (area 4)
Job’s Syndrome
immune deficiency: neutrophils fail to respond to chemotactic stimuli; defective neutrophilic chemotactic response = repeated infxns; light-skinned, red-haired girls; inc. IgE levels
Kaposi Sarcoma
malignant vascular tumor
Kartagener’s Syndrome
immotile cilia due to defective dynein arms; infection, situs inversus, sterility
Kawasaki Disease
mucocutaneous lymph node syndrome in kids; acute necrotizing vasculitis of lips & oral mucosa
Klinefelter’s Syndrome
47, XXY; long arms, sterile, hypogonadism
Kluver-Bucy
bilateral lesions of amygdala; hypersexuality, oral behavior
Krukenberg Tumor
adenocarcinoma w/ signet-ring cells (typically originating from stomach) metastases to the ovaries
Laennec’s Cirrhosis
alcoholic cirrhosis
Lesch-Nyhan
HGPRT deficiency; gout, retardation, self-mutilation
Letterer-Siwe
acute disseminated Langerhans’ cell histiocytosis
Libman-Sacks
endocarditis w/ small vegetations on valve leaflets; associated w/ SLE
Lou Gehrig’s
Amyotrophic Lateral Sclerosis; degeneration of upper & lower motor neurons
Mallory-Weis Syndrome
bleeding from esophagogastric lacerations that occur due to wretching; common in alcoholics
Marfan’s
connective tissue defect; defective Fibrillin gene; dissecting aortic aneurysm, subluxation of lenses
McArdle’s Disease
Type V Glycogenosis; glycogen storage disease (muscle phosphorylase deficiency = inc. glycogen)
Meckel’s Diverticulum
“rule of 2’s” - 2 inches long, 2 ft from ileocecum, in 2% of population; embryonic duct origin; may have ectopic tissue: gastric / pancreatic
Meig’s Syndrome
Triad: ovarian fibroma, ascites, hydrothorax; associated w/ fibroma of ovaries
Menetrier’s Disease
giant hypertrophic gastritis; enlarged rugae, plasma protein loss
Monckeberg’s Arteriosclerosis
calcification of the media (usually radial & ulnar artery)
Munchausen Syndrome
factitious disorder
Nelson’s Syndrome
Adrenal Cushings –> surgical removal of adrenals –> loss of negative feedback to pituitary –> Pituitary Adenoma
Niemann-Pick
lysosomal storage disease; “foamy histiocytes”
Osler-Weber-Rendu Syndrome
Hereditary Hemorrhagic Telangiectasia; seen in Morman’s of Utah
Paget’s Disease
abnormal bone architecture; thickened, numerous fractures –> pain
Pancoast Tumor
bronchogenic tumor w/ superior sulcus involvement –> Horner’s Syndrome
Parkinson’s
dopamine depletion in nigrostriatal tracts
Peutz-Jegher’s Syndrome
melanin pigmentation of lips, mouth, hand, genitalia + hamartomatous polyps of small intestine
Peyronie’s Disease
subcutaneous fibrosis of dorsum of penis
Pick’s Disease* - two dz states
- progressive dementia similar to Alzheimer’s 2. constrictive pericarditis; sequel to mediastinal tuberculosis; calcium-frosting, unyielding layer; heart chambers may be unable to dilate to receive blood during diastole
Plummer’s Syndrome
hyperthyroidism, nodular goiter, absence of eye signs ( Plummer’s = Grave’s - eye signs )
Plummer-Vinson
esophageal webs & iron-deficiency anemia; spoon-shaped nails; inc SCCA of esophagus
Pompe’s Disease
Type II Glycogenosis - glycogen storage disease –> cardiomegaly
Pott’s Disease
tuberculous osteomyelitis of the vertebrae
Potter’s Complex
renal agenesis –> oligohydramnios –> hypoplastic lungs, defects in extremities
Raynaud’s Disease
recurrent vasospasm in extremities; seen in young, healthy women
Raynaud’s Phenomenon
Raynaud’s that develops due to underlying disease ( SLE or scleroderma )
Reiter’s Syndrome
urethritis, conjunctivitis, arthritis; HLA-B27, non-infectious (but often follows infxn)
Reye’s Syndrome
microvesicular fatty liver change & encephalopathy; develops due to ASA ingestion in children s/p viral illness, especially VZV
Riedel’s Thyroiditis
idiopathic fibrous replacement of thyroid
Rotor Syndrome
congenital hyperbilirubinemia (conjugated); similar to Dubin-Johnson, but no discoloration of the liver
Sezary Syndrome
leukemic form of cutaneous T-cell lymphoma
Shaver’s Disease
aluminum inhalation –> lung fibrosis
Sheehan’s Syndrome
postpartum pituitary necrosis = hemorrhage & shock usually occurred during pregnancy
Shy-Drager
Parkinsonism w/ autonomic dysfxn & orthostatic hypotension
Simmond’s Disease
pituitary cachexia - can occur from either pituitary tumors or Sheehan’s
Sipple’s Syndrome
MEN Type IIA = pheo, thyroid medullary CA, hyperparathyroidism
Sjogren’s Syndrome
Triad: dry eyes, dry mouth, arthritis; increased risk of B-cell lymphoma
Spitz Nevus
juvenile melanoma (always benign)
Stein-Leventhal
polycystic ovary; amenorrhea, infertility, obesity, hirsutism; increased LH secretion
Stevens-Johnson Syndrome
erythema multiforme, fever, malaise, mucosal ulceration; often occurs s/p infxn - mycoplasma or sulfa drugs
Still’s Disease
juvenile rheumatoid arthritis (absence of rheumatoid factor)
Takayasu’s Arteritis
Aortic Arch Syndrome; loss of carotid, radial or ulnar pulses = pulseless disease; night sweats; common in young, asian females
Tay-Sachs
gangliosidosis; cherry red spots of the macula
Tetralogy of Fallot
- VSD
- overriding aorta
- pulmonary artery stenosis
- right ventricular hypertrophy
Tourette’s Syndrome
involuntary actions, both motor & vocal; tx w/ Pimozide
Turcot’s Syndrome
colon adenomatous polyps + CNS tumors
Turner’s Syndrome
45, XO = most common cause of primary amenorrhea; no barr body on buccal smear
Vincent’s Infection
“trench mouth” - acute necrotizing ulcerative gingivitis due to fusobacterium
Von Gierke’s Disease
Type I Glycogenosis - glycogen storage disease (G6Ptase deficiency) - glycogen accumulation
Von Hippel-Lindau
hemangioma (or hemangioblastoma) = cerebellum, brain stem & retina; adenomas of the viscera, increased renal cell carcinoma; chromosome 3p
Von Recklinghausen’s
neurofibromatosis + cafe au lait spots + Lisch nodules ( chromosome 17 )
Von Recklinghausen’s Disease of Bone
osteitis fibrosa cystica (“brown tumor”) due to hyperparathyroidism = osteoclastic resorption w/ fibrous replacement
Von Willebrand’s Disease
defect in platelet adhesion due to deficiency in vWF; increase bleed time
Waldenstrom’s Macroglobinemia
proliferation of IgM-producing lymphoid cells in men 50-70 yrs
Wallenberg’s Syndrome
Posterior Inferior Cerebellar Artery (PICA) thrombosis; “medullary syndrome” - Ipsilateral: ataxia, facial pain & fever; Contralateral: body pain & fever
Waterhouse-Friderichsen
adrenal insufficiency due to DIC; DIC due to meningiococcemia
Weber’s Syndrome
paramedian infarct of midbrain - Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)
Wegener’s Granulomatosis
necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
Weil’s Disease
icteric leptospirosis; dark field microscopy for dx
Wermer’s Syndrome
MEN Type I = thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary
Wenicke’s Aphasia
sensory aphasia; impaired comprehension
Wernicke-Korsakoff Syndrome
thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nuclea)
Whipple’s Disease
malabsorption syndrome (w/ bacteria-laden macrophages) & polyarthritis
Wilson’s Disease
hepatolenticular degeneration (copper accumulation & decrease in ceruloplasmin); Mallory Bodies in the liver; chromosome 13
Wiskott-Aldrich Syndrome
immunodeficiency: combined B-cell & T-cell deficiency (thrombocytopenia & eczema); dec. IgM w/ inc. IgA
Wolff-Chaikoff Effect
high iodine level decreases thyroid hormone synthesis
Zenker’s Diverticulum
esophageal; cricopharyngeal muscles above UES
Zollinger-Ellison
gastrin-secreting tumor of pancreas (or intestine) –> inc acid –> recurrent ulcers
Roger’s Disease
interventricular septal defect
Barlow’s Syndrome
floppy valve syndrome; females btwn 20-40 yrs; MVP
Bracht-Wachter Lesions
minute abscesses found in subacute bacterial endocarditis
Lutembacher’s Syndrome
combination of septum secundum atrial septal defect w/ mitral stenosis
Schmidt’s Syndrome
autoimmune thyroid disease (Hashimoto’s) & insulin-dependent diabetes
