Named Diseases List

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.