Named Diseases

Named Diseases List

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
  • progressive dementia
Argyll-Robertson Pupil ·  loss of light reflex constriction  (contralateral or bilateral)
·  “Prostitute’s Eye” – accommodates but does not react
·  Pathognomonic for 3°Syphilis
Arnold-Chiari Malformation
  • cerebellar tonsil herniation
  • columnar metaplasia of lower esophagus (  risk of adenocarcinoma)
Bartter’s Syndrome
  • hyperreninemia
Becker’s Muscular Dystrophy
  • similar to Duchenne, but less severe (deficiency in dystrophin protein)
Bell’s Palsy
  • CNVII palsy   (entire face; recall that UMN lesion only affects lower face)
Berger’s Disease
  • IgA nephropathy
Bernard-Soulier Disease
  • defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)
Berry Aneurysm
  • circle of Willis (subarachnoid bleed)
    ·  often associated with ADPKD
Bowen’s Disease
  • carcinoma in situ on shaft of penis (  risk of visceral ca)
Briquet’s Syndrome
  • somatization disorder
    ·  psychological: multiple physical complaints without physical pathology
Broca’s Aphasia
  • Motor Aphasia intact comprehension
  • hemisection of cord  (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN)
Bruton’s Disease
  • X-linked agammaglobinemia
  • post-hepatic venous thrombosis
Buerger’s Disease
  • acute inflammation of small, medium arteries ® painful ischemia ® gangrene
Burkitt’s Lymphoma
  • small noncleaved cell lymphoma   EBV
    ·  8:14 translocation
Caisson Disease
  • gas emboli
Chagas’ Disease
  • Trypansoma infection  sleeping disease, cardiomegaly with apical atrophy, achlasia
Chediak-Higashi Disease
  • Phagocyte Deficiency: neutropenia, albinism, cranial & peripheral neuropathy
    ·  repeated infections
Conn’s Syndrome
  • primary aldosteronism
Cori’s Disease
  • glycogen storage disease  (debranching enzyme deficiency)
  • prion infection ® cerebellar & cerebral degeneration
Crigler-Najjar Syndrome
  • congenital hyperbilirubinemia (unconjugated)
    ·  glucuronyl transferase deficiency
  • IBD; ileocecum, transmural, skip lesions, lymphocytic infiltrate, granulomas
    (contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, colon cancer risk)
Curling’s Ulcer
  • acute gastric ulcer associated with severe burns
  • Disease: hypercorticism 2 ° to ACTH from pituitary (basophilic adenoma)
    ·  Syndrome: hypercorticism of all other causes (1 ° adrenal or ectopic)
Cushing’s Ulcer
  • acute gastric ulcer associated with CNS trauma
de Quervain’s Thyroiditis
  • self-limiting focal destruction (subacute thyroiditis)
DiGeorge’s Syndrome
  • thymic hypoplasia ® T-cell deficiency
    ·  hypoparathyroidism
Down’s Syndrome
  • trisomy 21 or translocation
Dressler’s Syndrome
  • Post-MI Fibrinous Pericarditis  autoimmune
Dubin-Johnson Syndrome
  • congenital hyperbilirubinemia (conjugated)
    ·  striking brown-to-black discoloration of the liver (centilobular portion)
Duchenne Muscular Dystrophy
  • deficiency of dystrophin protein ® MD    X-linked recessive
Edwards’ Syndrome
  • trisomy 18
    ·  rocker-bottom feet, low ears, heart disease
  • defective collagen
Eisenmenger’s Complex
  • late cyanotic shunt (R®L) pulmonary HTN & RVH 2° to long-standing VSD, ASD, or PDA
Erb-Duchenne Palsy
  • trauma to superior trunk of brachial plexus  Waiter’s Tip
Ewing Sarcoma
  • undifferentiated round cell tumor of bone
Eyrthroplasia of Queyrat
  • carcinoma in situ on glans penis
Fanconi’s Syndrome
  • impaired proximal tubular reabsorption 2 ° to lead poisoning or Tetracycline  (glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)
Felty’s Syndrome
  • rheumatoid arthritis, neutropenia, splenomegaly
Gardner’s Syndrome
  • adenomatous polyps of colon plus osteomas & soft tissue tumors
Gaucher’s Disease
  • Lysosomal Storage Disease  glucocerebrosidase deficiency
  • hepatosplenomegaly, femoral head & long bone erosion, anemia
Gilbert’s Syndrome
  • benign congenital hyperbilirubinemia (unconjugated)
Glanzmann’s Thrombasthenia
  • defective glycoproteins on platelets
  • autoimmune: ab’s to glomerular & alveolar basement membranes
Grave’s Disease
  • autoimmune hyperthyroidism (TSI)
  • idiopathic polyneuritis   (ascending muscle weakness & paralysis; usually self-limiting)
Hamman-Rich Syndrome
  • idiopathic pulmonary fibrosis
  • chronic progressive histiocytosis
Hashimoto’s Thyroiditis
  • autoimmune hypothyroidism
  • initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism
Henoch-Schonlein purpura
  • hypersensivity vasculitis
    ·  hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement)
    ·  associated with upper respiratory infections
Hirschprung’s Disease
  • aganglionic megacolon
Horner’s Syndrome
  • ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2 to a pancoaset tumour)
  • progressive degeneration of caudate nucleus, putamen & frontal cortex; AD
Jacksonian Seizures
  • epileptic events originating in the primary motor cortex (area 4)
Job’s Syndrome
  • immune deficiency: neutrophils fail to respond to chemotactic stimuli
Kaposi Sarcoma
  • malignant vascular tumor  (HHV8 in homosexual men)
Kartagener’s Syndrome
  • immotile cilia 2° to defective dynein arms  infection, situs inversus, sterility
Kawasaki Disease
  • mucocutaneous lymph node syndrome (lips, oral mucosa)
Klinefelter’s Syndrome
  • 47, XXY
  • bilateral lesions of amygdala (hypersexuality; oral behavior)
Krukenberg Tumor
  • adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the ovaries
Laennec’s Cirrhosis
  • alcoholic cirrhosis
  • HGPRT deficiency
    ·  gout, retardation, self-mutilation
  • acute disseminated Langerhans’ cell histiocytosis
  • endocarditis with small vegetations on valve leaflets
    ·  associated with SLE
Lou Gehrig’s
  • Amyotrophic Lateral Sclerosis  degeneration of upper & lower motor neurons
Mallory-Weis Syndrome
  • bleeding from esophagogastric lacerations 2 ° to wretching (alcoholics)
  • connective tissue defect
McArdle’s Disease
  • glycogen storage disease (muscle phosphorylase deficiency)
Meckel’s Diverticulum
  • rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population
    ·  embryonic duct origin; may contain ectopic tissue (gastric, pancreatic, etc.)
Meig’s Syndrome
  • Triad: ovarian fibroma, ascites, hydrothorax
Menetrier’s Disease
  • giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
Monckeberg’s Arteriosclerosis
  • calcification of the media (usually radial & ulnar aa.)
Munchausen Syndrome
  • factitious disorder (consciously creates symptoms, but doesn’t know why)
Nelson’s Syndrome
  • 1 ° Adrenal Cushings ® surgical removal of adrenals ® loss of negative feedback to pituitary ®Pituitary Adenoma
  • Lysosomal Storage Disease  sphingomyelinase deficiency
    ·  “foamy histiocytes”
Osler-Weber-Rendu Syndrome
  • Hereditary Hemorrhagic Telangiectasia
Paget’s Disease
  • abnormal bone architecture (thickened, numerous fractures ® pain)
Pancoast Tumor
  • bronchogenic tumor with superior sulcus involvement ® Horner’s Syndrome
  • dopamine depletion in nigrostriatal tracts
Peutz-Jegher’s Syndrome
  • melanin pigmentation of lips, mouth, hand, genitalia plus hamartomatous polyps of small intestine
Peyronie’s Disease
  • subcutaneous fibrosis of dorsum of penis
Pick’s Disease
  • progressive dementia similar to Alzheimer’s
Plummer’s Syndrome
  • hyperthyroidism, nodular goiter, absence of eye signs  (Plummer’s = Grave’s – eye signs)
  • esophageal webs & iron-deficiency anemia,  SCCA of esophagus
Pompe’s Disease
  • glycogen storage disease ® cardiomegaly
Pott’s Disease
  • tuberculous osteomyelitis of the vertebrae
Potter’s Complex
  • renal agenesis ® oligohydramnios ® hypoplastic lungs, defects in extremities
  • Disease: recurrent vasospasm in extremities
    ·  Phenomenon: 2 ° to underlying disease (SLE or scleroderma)
Reiter’s Syndrome
  • urethritis, conjunctivitis, arthritis  non-infectious (but often follows infections), HLA-B27, polyarticular
Reye’s Syndrome
  • microvesicular fatty liver change & encephalopathy
    ·  2 ° to aspirin ingestion in children following viral illness
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 (mycosis fungoides)
Shaver’s Disease
  • aluminum inhalation ® lung fibrosis
Sheehan’s Syndrome
  • postpartum pituitary necrosis
  • parkinsonism with autonomic dysfunction & orthostatic hypotension
Simmond’s Disease
  • pituitary cachexia
Sipple’s Syndrome
  • MEN type IIa (pheochromocytoma, thyroid medulla, parathyroid)
Sjogren’s Syndrome
  • triad: dry eyes, dry mouth, arthritis   risk of B-cell lymphoma
Spitz Nevus
  • juvenile melanoma (always benign)
  • polycystic ovary
Stevens-Johnson Syndrome
  • erythema multiforme, fever, malaise, mucosal ulceration  (often 2° to infection 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
  • gangliosidosis  (hexosaminidase A deficiency ® GM2 ganglioside)
Tetralogy of Fallot
  • VSD, overriding aorta, pulmonary artery stenosis, right ventricular hypertrophy
Tourette’s Syndrome
  • involuntary actions, both motor and vocal
Turcot’s Syndrome
  • adenomatous polyps of colon plus CNS tumors
Turner’s Syndrome
  • 45, XO
Vincent’s Infection
  • “trench mouth” – acute necrotizing ulcerative gingivitis
von Gierke’s Disease
  • glycogen storage disease (G6Pase deficiency)
von Hippel-Lindau
  • hemangioma (or hemangioblastoma)
    ·  adenomas of the viscera, especially renal cell carcinoma
von Recklinghausen’s
  • neurofibromatosis & café au lait spots
von Recklinghausen’s Disease of Bone
  • osteitis fibrosa cystica (“brown tumor”) 2 ° to hyperparathyroidism
von Willebrand’s Disease
  • defect in platelet adhesion 2 ° to deficiency in vWF
Waldenstrom’s macroglobinemia
  • proliferation of IgM-producing lymphoid cells
Wallenberg’s Syndrome
  • 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
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
  • leptospirosis
Wermer’s Syndrome
  • MEN type I (thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary)
Wernicke’s Aphasia
  • Sensory Aphasia  impaired comprehension
Wernicke-Korsakoff Syndrome
  • thiamine deficiency in alcoholics; bilateral mamillary bodies   (confusion, ataxia, ophthalmoplegia)
Whipple’s Disease
  • malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis
Wilson’s Disease
  • hepatolenticular degeneration  (copper accumulation & decrease in ceruloplasmin)
Wiskott-Aldrich Syndrome
  • immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia & eczema)
Wolff-Chaikoff Effect
  • high iodine level ( – )’s thyroid hormone synthesis
Zenker’s Diverticulum
  • esophageal; cricopharyngeal muscles above UES
  • gastrin-secreting tumor of pancreas (or intestine) ® acid ® intractable ulcers, Increased gastrin + Increased Acid Output.

October 16, 2010

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