NAMED DISEASES

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
Alzheimer’s	· 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
Barrett’s	· 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
Brown-Sequard	· hemisection of cord  (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN)
Bruton’s Disease	· X-linked agammaglobinemia
Budd-Chiari	· 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)
Creutzfeldt-Jakob	· prion infection ® cerebellar & cerebral degeneration
Crigler-Najjar Syndrome	· congenital hyperbilirubinemia (unconjugated) ·           glucuronyl transferase deficiency
Crohn’s	· 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
Cushing’s	· 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
Ehler’s-Danlos	· 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
Goodpasture’s	· autoimmune: ab’s to glomerular & alveolar basement membranes
Grave’s Disease	· autoimmune hyperthyroidism (TSI)
Guillain-Barre	· idiopathic polyneuritis   (ascending muscle weakness & paralysis; usually self-limiting)
Hamman-Rich Syndrome	· idiopathic pulmonary fibrosis
Hand-Schuller-Christian	· chronic progressive histiocytosis
Hashimoto’s Thyroiditis	· autoimmune hypothyroidism
Hashitoxicosis	· 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)
Huntington’s	· 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
Kluver-Bucy	· 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
Lesch-Nyhan	· HGPRT deficiency ·           gout, retardation, self-mutilation
Letterer-Siwe	· acute disseminated Langerhans’ cell histiocytosis
Libman-Sacks	· 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)
Marfan’s	· 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
Niemann-Pick	· 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
Parkinson’s	· 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)
Plummer-Vinson	· 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
Raynaud’s	· 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
Shy-Drager	· 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)
Stein-Leventhal	· 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
Tay-Sachs	· 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
Waterhouse-Friderichsen	· 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
Zollinger-Ellison	· gastrin-secreting tumor of pancreas (or intestine) ® ­ acid ® intractable ulcers, Increased gastrin + Increased Acid Output.