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185 Cards in this Set

  • Front
  • Back
Addison’s Disease
 primary adrenocortical deficiency
Addisonian Anemia
 pernicious anemia (antibodies to intrinsic factor or parietal cells  IF  Vit B12  megaloblastic anemia)
Albright’s Syndrome
 polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls
Alport’s Syndrome
 hereditary nephritis with nerve deafness, Type 4 collagen defect (basement membranes)
 progressive dementia; tau proteins, neurofibrillary tangles, apolipoprotein E4 allele, narrow gyri and wide sulci (atrophy), occipital sparing, hydrocephalus ex vacuo, plaques in hippocampus and cortex, ¯ Acetylcholine, Hiramo bodies (inrtacellular inclusion bodies in hippocampal cells)
Argyll-Robertson Pupil
 loss of light reflex constriction (contralateral or bilateral)
Arnold-Chiari Malformation
 “Prostitute’s Eye” - accommodates but does not react
 Pathognomonic for 3Syphilis
Bartter’s Syndrome
 cerebellar tonsil herniation
Becker’s Muscular Dystrophy
 columnar metaplasia of lower esophagus (­ risk of adenocarcinoma)
Bell’s Palsy
 hyperreninemia
Berger’s Disease
 similar to Duchenne, but less severe (deficiency in dystrophin protein)
Bernard-Soulier Disease
 CNVII palsy (entire face; recall that UMN lesion only affects lower face)
Berry Aneurysm
 IgA nephropathy
Bowen’s Disease
 defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)
Briquet’s Syndrome
 circle of Willis (subarachnoid bleed)
Broca’s Aphasia
 often associated with ADPKD
 carcinoma in situ on shaft of penis (­ risk of visceral ca)
 somatization disorder
Bruton’s Disease
 psychological: multiple physical complaints without physical pathology
 Motor Aphasia intact comprehension
Buerger’s Disease
Burkitt’s Lymphoma
 hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN)
Caisson Disease
 X-linked agammaglobinemia
Carpal Tunnel Syndrome
 post-hepatic venous thrombosis
Chagas’ Disease
 acute inflammation of small, medium arteries ® painful ischemia ® gangrene
Chediak-Higashi Disease
 small noncleaved cell lymphoma EBV
Congenital adrenal hyperplasia
 8:14 translocation
Conn’s Syndrome
 gas emboli
Cori’s Disease
Median nerve entrapment
 Trypansoma infection sleeping disease, cardiomegaly with apical atrophy, achlasia
Crigler-Najjar Syndrome
 Phagocyte Deficiency: neutropenia, albinism, cranial & peripheral neuropathy
 repeated infections
21-hydroxylase deficiency: virilism, no cortisol, salt loss, hypotension
Curling’s Ulcer
11-hydroxylase deficiency: virilism, no cortisol, salt retention, hypertension
 primary aldosteronism
Cushing’s Ulcer
 glycogen storage disease (debranching enzyme deficiency)
de Quervain’s Thyroiditis
 prion infection ® cerebellar & cerebral degeneration
DiGeorge’s Syndrome
 congenital hyperbilirubinemia (unconjugated)
Down’s Syndrome
 glucuronyl transferase deficiency
Dressler’s Syndrome
 IBD; ileocecum, transmural, skip lesions, lymphocytic infiltrate, granulomas
Dubin-Johnson Syndrome
(contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, ­ colon cancer risk)
Duchenne Muscular Dystrophy
Edwards’ Syndrome
 acute gastric ulcer associated with severe burns
 Disease: hypercorticism 2° to ­ ACTH from pituitary (basophilic adenoma)
Eisenmenger’s Complex
 Syndrome: hypercorticism of all other causes (1° adrenal or ectopic)
Erb-Duchenne Palsy
 acute gastric ulcer associated with CNS trauma
Ewing Sarcoma
 self-limiting focal destruction (subacute thyroiditis)
Eyrthroplasia of Queyrat
 thymic hypoplasia ® T-cell deficiency
Fanconi’s Syndrome
 hypoparathyroidism
Felty’s Syndrome
 trisomy 21 or translocation
Gardner’s Syndrome
 Post-MI Fibrinous Pericarditis autoimmune
Gaucher’s Disease
 congenital hyperbilirubinemia (conjugated)
Gilbert’s Syndrome
 striking brown-to-black discoloration of the liver
 deficiency of dystrophin protein ® MD X-linked recessive
Glanzmann's Thrombasthenia
 trisomy 18
 rocker-bottom feet, low ears, heart disease
Grave’s Disease
 defective collagen
 late cyanotic shunt (RL) pulmonary HTN & RVH 2 to long-standing VSD, ASD, or PDA
Hamman-Rich Syndrome
 trauma to superior trunk of brachial plexus Waiter’s Tip
 undifferentiated round cell tumor of bone
Hashimoto’s Thyroiditis
 carcinoma in situ on glans penis
 impaired proximal tubular reabsorption 2° to lead poisoning or Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)
Henoch-Schonlein purpura
 rheumatoid arthritis, neutropenia, splenomegaly
Hereditary Spherocytosis
 adenomatous polyps of colon plus osteomas & soft tissue tumors
Hirschprung’s Disease
 Lysosomal Storage Disease glucocerebrosidase deficiency
Horner’s Syndrome
 hepatosplenomegaly, femoral head & long bone erosion, anemia
Crinkled tissue paper cells in marrow
 benign congenital hyperbilirubinemia (unconjugated)
Tumor arising in cells of Cajal (pacemakers of gut)
Jacksonian Seizures
 defective glycoproteins on platelets
Job’s Syndrome
 autoimmune: ab’s to glomerular & alveolar basement membranes; linear immunofluorescence
Kaposi Sarcoma
 autoimmune hyperthyroidism (TSI)
Kartagener’s Syndrome
 idiopathic polyneuritis (ascending muscle weakness & paralysis; usually self-limiting)
Kawasaki Disease
 idiopathic pulmonary fibrosis
 chronic progressive histiocytosis
Klinefelter’s Syndrome
 autoimmune hypothyroidism (antimicrosomal or antithyroglobulin); Hurthle cells, thyroid germinal centers,
 initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism
Krabbe Disease
 hypersensivity vasculitis
Krukenberg Tumor
 hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement)
Laennec’s Cirrhosis
 associated with upper respiratory infections
RBC cytoskeletin defect, most commonly spectrin
 aganglionic megacolon
 ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2° to a Pancoast tumor)
Lou Gehrig’s
 progressive degeneration of caudate nucleus, putamen & frontal cortex; AD
Mallory-Weis Syndrome
Decreased iduronosulfate sulfatase
Decreased alpha-L-iduronidase
McArdle’s Disease
 epileptic events originating in the primary motor cortex (area 4)
Meckel’s Diverticulum
 immune deficiency: neutrophils fail to respond to chemotactic stimuli
Meig’s Syndrome
 malignant vascular tumor (HHV8 in homosexual men)
Menetrier’s Disease
 immotile cilia 2 to defective dynein arms infection, situs inversus, sterility
Monckeberg’s Arteriosclerosis
 mucocutaneous lymph node syndrome (lips, oral mucosa)
Munchausen Syndrome
 47, XXY
 bilateral lesions of amygdala (hypersexuality; oral behavior)
Nelson’s Syndrome
Beta-galactosidase deficiency
 adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the ovaries
Osler-Weber-Rendu Syndrome
 alcoholic cirrhosis
Osteogenesis imperfecta
 HGPRT deficiency
Paget’s Disease
 gout, retardation, self-mutilation
Pancoast Tumor
 acute disseminated Langerhans’ cell histiocytosis
 endocarditis with small vegetations on valve leaflets
Peutz-Jegher’s Syndrome
 associated with SLE
Peyronie’s Disease
 Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons
Pick’s Disease
 bleeding from esophagogastric lacerations 2° to wretching (alcoholics)
Plummer’s Syndrome
 elastin defect, floppy mitral valve, arachnodactyly, cystic medial necrosis, subluxed lens
 glycogen storage disease (muscle phosphorylase deficiency)
Pompe’s Disease
 rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population
Pott’s Disease
 embryonic duct origin; may contain ectopic tissue (gastric, pancreatic, etc.)
Potter’s Complex
 Triad: ovarian fibroma, ascites, hydrothorax
 giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
Reiter’s Syndrome
 calcification of the media (usually radial & ulnar aa.), pipestem arteries
Reye’s Syndrome
 factitious disorder (consciously creates symptoms, but doesn’t know why)
Riedel’s Thyroiditis
Arachnoid cap cells, whorls of cells
Rotor Syndrome
Asbestos exposure
Sezary Syndrome
 1° Adrenal Cushings ® surgical removal of adrenals ® loss of negative feedback to pituitary ® Pituitary Adenoma
Shaver’s Disease
 Lysosomal Storage Disease sphingomyelinase deficiency
Sheehan’s Syndrome
 “foamy histiocytes”
 Hereditary Hemorrhagic Telangiectasia
Simmond’s Disease
Type I collagen defect
Sipple’s Syndrome
 abnormal bone architecture (thickened, numerous fractures ® pain) , woven and lamellar bone mosaic
Sjogren’s Syndrome
 bronchogenic tumor with superior sulcus involvement ® Horner’s Syndrome
Spitz Nevus
 dopamine depletion in nigrostriatal tracts; Cogwheel rigidity
 melanin pigmentation of lips, mouth, hand, genitalia plus hamartomatous polyps of small intestine
Stevens-Johnson Syndrome
 subcutaneous fibrosis of dorsum of penis
Struma Ovarii
 progressive dementia similar to Alzheimer’s, knife-edged gyri
Still’s Disease
 hyperthyroidism, nodular goiter, absence of eye signs (Plummer’s = Grave’s - eye signs)
Takayasu’s arteritis
 esophageal webs & iron-deficiency anemia,  SCCA of esophagus
 glycogen storage disease (acid maltase deficiency) ® cardiomegaly
Tetralogy of Fallot
 tuberculous osteomyelitis of the vertebrae
Tourette’s Syndrome
 renal agenesis ® oligohydramnios ® hypoplastic lungs, defects in extremities
Turcot’s Syndrome
 Disease: recurrent vasospasm in extremities
Turner’s Syndrome
 Phenomenon: 2° to underlying disease (SLE or scleroderma)
Typhoid Fever
 urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27, polyarticular
Vincent’s Infection
 microvesicular fatty liver change & encephalopathy
von Gierke’s Disease
 2° to aspirin ingestion in children following viral illness
von Hippel-Lindau
 idiopathic fibrous replacement of thyroid
von Recklinghausen’s
 congenital hyperbilirubinemia (conjugated)
von Recklinghausen’s Disease of Bone
 similar to Dubin-Johnson, but no discoloration of the liver
von Willebrand’s Disease
 leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
Waldenstrom’s macroglobinemia
 aluminum inhalation  lung fibrosis
Wallenberg’s Syndrome
 postpartum pituitary necrosis
 parkinsonism with autonomic dysfunction & orthostatic hypotension
Weber’s Syndrome
 pituitary cachexia
Wegener’s Granulomatosis
 MEN type IIa (pheochromocytoma, thyroid medulla, parathyroid)
Weil’s Disease
 triad: dry eyes, dry mouth, arthritis  risk of B-cell lymphoma
Wermer’s Syndrome
 juvenile melanoma (always benign)
Wernicke’s Aphasia
 polycystic ovary
Wernicke-Korsakoff Syndrome
 erythema multiforme, fever, malaise, mucosal ulceration (often 2 to infection or sulfa drugs)
Whipple’s Disease
Thyroid teratoma of ovary
Wilson’s Disease
 juvenile rheumatoid arthritis (absence of rheumatoid factor)
Wiskott-Aldrich Syndrome
 aortic arch syndrome
Wolff-Chaikoff Effect
 loss of carotid, radial or ulnar pulses
Zenker’s Diverticulum
 gangliosidosis (hexosaminidase A deficiency ® GM2 ganglioside)
 ÊVSD, Ëoverriding aorta, Ìpulmonary artery stenosis, Íright ventricular hypertrophy
 involuntary actions, both motor and vocal
 adenomatous polyps of colon plus CNS tumors
 45, XO
Bradycardia and in white people rose spots on abdomen
 “trench mouth” - acute necrotizing ulcerative gingivitis
 glycogen storage disease (G6Pase deficiency)
 hemangioma (or hemangioblastoma)
 adenomas of the viscera, especially renal cell carcinoma
defect in VHL tumor suppressor
 neurofibromatosis & café au lait spots & Lisch nodule (iris hamartomas)
 osteitis fibrosa cystica (“brown tumor”) 2° to hyperparathyroidism
 defect in platelet adhesion 2° to deficiency in vWF; increased bleeding time and PTT
 proliferation of IgM-producing lymphoid cells
 Posterior Inferior Cerebellar Artery (PICA) thrombosis “Medullary Syndrome”
 Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp
 catastrophic adrenal insufficiency 2° to hemorrhagic necrosis (eg, DIC)
 often 2° to meningiococcemia
 Paramedian Infarct of Midbrain
 Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)
 necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
 leptospirosis
 MEN type I (thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary)
 Sensory Aphasia impaired comprehension
 thiamine deficiency in alcoholics; bilateral mamillary bodies (confusion, ataxia, ophthalmoplegia)
 malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis
 hepatolenticular degeneration (copper accumulation & decrease in ceruloplasmin)
 immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia & eczema)
 high iodine level (-)’s thyroid hormone synthesis
 esophageal; cricopharyngeal muscles above UES
 gastrin-secreting tumor of pancreas (or intestine) ® ­ acid ® intractable ulcers