For those of you who prefer review tables
EPONYMS (Diseases with named after a person)
Addison's Disease : primary adrenocortical deficiency
Addisonian Anemia
ernicious anemia
Aide’s tonic pupil: LARGE pupil. rare, always benign. Fails to constrict to both accommodation & light. After a prolonged attempt it eventually constricts but sluggishly. Pupil redilates slowly (tonic).
Albright's Syndrome : pseudohypoparathyroidism
Resistance to PTH. Hypocalemia & hyperphosphatemia + increased PTH (negative feedback).Manifestations in the genetic type (Ia): Subcutaneous ossifications, brachydactyly, obesity, round facies, and short stature.
Alport's Syndrome: X-linked hereditary nephritis with nerve deafness
hematuria, family history of males progressing to end stage renal disease.
Alzheimer's : progressive dementia.
Argyll-Robertson Pupil : small pupil. Loss of light reflex.
Arnold-Chiari Malformation: herniation of the cerebellar tonsils
Barrett's esophagus: columnar metaplasia of the esophagus due to chronic reflux esophagitis (precancerous)
Bartter's Syndrome: hyperreninemia
Becker's Muscular Dystrophy: more benign than Duchenne muscular dystrophy (pseudohypertrophy), appears in the 20s and 30s, no skeletal or heart abnormalities (deficiency in dystrophin protein)
Bell's Palsy (Facial palsy) : Inflammatory swelling of the facial nerve in the facial canal of the middle ear, leading in severe cases to an acute compression neuropathy.
Berger's Disease: IgA nephropathy.
Berry Aneurysm: aneurysm of the circle of Willis (common cause of subarachnoid hemorrhage)
Broca's Aphasia: Motor Aphasia
Brown-Sequard : hemisection of spinal cord ,contralateral loss of pain & temperature,ipsilateral LMN lesion & loss of sensation at the level of the lesion.ispilateral hemiplegia, deep sensory loss below the level of the lesion.
Bruton's Disease: X-linked agammaglobinemia
Budd-Chiari : thrombosis of the hepatic veins.
Buerger's Disease: acute inflammation of small, arteries & veins with perivascular fibrosis which blends artery, vein & nerve into one mass. Occurs in smokers 95% are males. painful ischemia progressing to gangrene.
Burkitt's Lymphoma: High grade non-Hodgkin's lymphoma. Common in children, rare in adults. Endemic in Africa.
Caisson Disease: Gas emboli due rapid decompression (diving).
Chagas' Disease : (American Trypansomiasis) infection with protozoan parasite Trypanosoma cruzi. Leads to heart affection progressing to heart failure, achlasia and megacolon.
Conn's Syndrome : primary hyperaldosteronism.
Creutzfeldt-Jakob : prion disease (Mad Cow disease in cows) is a slow virus infection of the CNS leading to cerebral degeneration (progressive dementia).
Crigler-Najjar Syndrome : Congenital neonatal jaundice Type I (Autosomal recessive - no glocuronyl transferase - leads to kernicterus)Type II (Autosomal dominant - diminished glocuronyl transferase).Unconjugated.
Crohn's disease : Inflammatory bowel disease: Deep with lymphocytic infiltrate
Skip lesions hence cobble stone appearance .Most commonly found in the terminal ileum. Can affect any area from mouth to anus.
Curling's Ulcer : Stress gastritis - associated with major trauma, burns, sepsis, shock.
Cushing's Syndrome: Hypercorticism.
Cushing's Ulcer: acute gastritis associated with intracranial lesions
de Quervain's Thyroiditis : Subacute viral thyroiditis. Transient hyperthyroidism --> hypothyroidism --> normal. Exquisitely tender and woody hard and moderately enlarged.
DiGeorge's Syndrome : dysmorphogenesis of the third and fourth pharyngeal pouches, leading to hypoplasia or aplasia of the thymus and parathyroid glands --> T-cell deficiency & hypoparathyroidism
Down's Syndrome: Trisomy 21
Dressler's Syndrome : Autoimmune pericarditis following myocardial infarction. Rare.
Dubin-Johnson Syndrome : congenital hyperbilirubinemia
Autosomal recessive appears at any age. Defect in bilirubin excretion (conjugated). Liver biopsy shows melanin deposition.
Duchenne Muscular Dystrophy: (pseudohypertrophy), appears early, skeletal or heart abnormalities are common (deficiency in dystrophin protein).
Edwards' Syndrome : Trisomy 18
Ehlers-Danlos Syndrome : defective collagen.
Eisenmenger's: Complex reversing of left to right shunt in patients with ASD, VSD, patent ductus arteriosus resulting in cyanosis.
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
Fabry's Disease: Rare, inherited disease in which lack of alpha-galactosidase causes lipid deposition in the organs leading to organ failure.
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: congenital hyperbilirubinemia
defect in glocuronidation & hepatic uptake of bilirubin. Bilirubin increases by fasting & phenobarbitone (unconjugated). Appears in young adults, prognosis is excellent.
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 Pancoast tumor)
Huntington's: progressive degeneration of caudate nucleus, putamen & frontal cortex; AD
Jacksonian Seizures: epileptic events originating in the primary motor cortex (area 4)
***'s Syndrome immune deficiency: neutrophils fail to respond to chemotactic stimuli
Kaposi Sarcoma: malignant vascular tumor (HHV8 in homosexual men)
Kartagener's Syndrome : Autosomal Recessive. Defect in dynein arms leading to immotile cilia this in turn leads to sterility and is associated with situs inversus
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
Levine sign: Clenched fist over the sternum is a telling feature of cardiac pain.
Libman-Sacks: endocarditis with small vegetations on valve leaflets
associated with SLE
Li-Fraumeni syndrome: Autosomal dominant cancer predisposition syndrome, with multiple cancers in an individual and their family.
Lou Gehrig's : Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons.
Mallory-Weis Syndrome: bleeding from esophagogastric lacerations 2° to wretching (alcoholics)
Marcus-Gunn Pupil : (Afferent pupillary defect) here repeated swinging of light from one eye to the other shows constriction of both eyes and dilatation of the affected eye.
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
Parinaud's syndrome : preauricular lymph node enlargement on the same side as conjunctivitis.
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
Ramsay-Hunt's Syndrome: Varicella Zoster infection of the geniculate ganglion. This results in unilateral lower motor neuron lesions of the facial nerve.
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
Schatzki's ring : Lower esophageal ring at the junction between squamous and columnar epithelium causing dysphagia to solids & liquids every 3-4 months after a bolus of meat or bread.
Sezary Syndrome : leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
Shaver's Disease : aluminum inhalation ----> lung fibrosis
Sheehan's Syndrome: postpartum pituitary necrosis
Schilling's test : used to diagnose pernicious anemia
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
Tietze's syndrome: self limiting costochondritis characterized by chest pain associated with tenderness.
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
nice post!!!! -
27-04-2006, 02:24 AM
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