-
Albright's Syndrome
Polystotic fibrous dysplasia, precocious puberty, cafe au lait spots, short statue, young gir.s
-
Addisonian Anemia
Pernicious anemia (antibodies to intrinsic factor or parietal cells - decrease IF - decrease Vit B12 - megaloblastic anemia)
-
Addison's Disease
Primary adrenocortical deficiency
-
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
- Pathognomic for 3-syphilis
- Lesion pretectal region of superior colliculus
-
Arnold-Chiari Malformation
Cerebellar tonsil herniation through foramen magnum - see thoracolumber meningomyelocele
-
Barrett's
Columnar metaplasia of lower esophagus (increased risk of ADCA) - constant gastroesophageal reflux
-
Bartter's Syndrome
Hyperreninema
-
Becker's Muscular Dystrophy
Similar to Duchenne, but less severe (mutation, not deficiency in dystrophin protein)
-
Bell's Palsy
CN VII (entire face: recall that UMN lesion only effects lower face)
-
Berger's Disease
IgA nephropathy causing hematuria in kids, usually following infection
-
Bernard-Soulier Disease
Defect in platelet adhesion (abnormally large platelets and lack of platelet-surface glycoprotein)
-
Berry Aneurysm
- Circle of Willis (subarachnoid bleed); Anterior Communicating artery
- Often associated with ADPKD
-
Bowen's Disease
Carcinorma in situ on shaft of penis (increased risk of visceral Ca) - [compare with Queyrat]
-
Brill-Zinsser Disease
Recurrence of rickettsia prowazaki up to 50 years later
-
Briquet's Syndrome
- Somatization disorder
- Psychological: multiple physical complaints w/o physical pathology
-
Broca's Aphasia
Motor aphasia (area 44 and 45) intact comprehension
-
Brown-Sequard
Hemisection of cord (contralateral loss of pain and temp / ipsilateral loss of fine touch, UMN / ipsilateral loss of conscious proprioception)
-
Bruton's Disease
X-linked agammaglobinemia (decreased B cells)
-
Budd-Chiari
Post-hepatic venous thrombosis = abdominal pain; hepatomegaly; ascites; portal HTN; liver failure
-
Buerger's Disease
- Acute inflammation of medium and small arteries of extremities - painful ischemia - gangrene
- Seen almost exclusively in young and middle-aged men who smoke
-
Burkitt's Lymphoma
- Small noncleaved cell lymphoma - EBV
- 8:14 translocation
- Seen commonly in jaws, abdomen, retroperitoneal soft tissue
- Starry sky appearance
-
Caisson Disease
Nitric gas emboli
-
Chagas' Disease
Trypansoma infection - cardiomegaly with apical atrophy, achlasia
-
Chediak-Higashi Disease
- (AR) Phagocyte Deficiency = defect in microtubule polymerization
- Neutropenia, albinism, cranial and peripheral neuropathy and repeated infections w/ strep and staph
-
Conn's Syndrome
Primary Aldosteronism: HTN, retain Na+ and H2O; hypokalemia (causing alkalosis); decreased renin
-
Cori's Disease
Type III Glycogenosis - Glycogen storage disease (debranching enzyme amylo 1,6 glyosidase def, increased Glycogen)
-
Creutzfeldt-Jakob
Prion infection - cerebellar and cerebral degeneration
-
Crigler-Najjar Syndrome
- Congenital hyperbilirubinemia (unconjugated)
- Glucuronyl transferase deficiency. Can progress to Kernicterus
- Less severe form will respond to Phenobarbital therapy
-
Crohn's
- IBD; ileocecum, transmural, skip lesions, cobblestone, lymphocytic infiltrate, granulomas
- (contrast to UC; limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, increased colon ca risk)
- Clinically: ab pain and diarrhea; fever; malabsorption; fistulae b/t intestinal loops and abd strictures
-
Curling's Ulcer
Acute gastric ulcer associated w/ severe burns
-
Cushing's
- Disease: Hypercorticism 2 to increased ACTH from pituitary (basophilic adenoma)
- Syndrome: hypercorticism of all other causes (1 adrenal or ectopic)
- moon face, buffalo hump, purple striae, hirsutisim, HTN, hyperglycemia
-
Cushing's Ulcer
Acute gastric ulcer associated with CNS trauma
-
de Quervain'sThyroiditis
Self-limiting focal destruction (subacute thyroiditis)
-
DiGeorge's Syndrome
- Failure of 3rd and 4th pharyngeal pouches to form: thymus and parathyroid
- Thymic hypoplasia - T-cell deficiency
- Hypoparathyrodism - tetany
-
Down's Syndrome
Trisomy of 21 or transolcation - Simian crease
-
Dressler's Syndrome
Post-MI fibrinous pericarditis - autoimmune
-
Dubin-Johnson Syndrome
- Congenital hyperbilirubinemia (conjugated) = bilirubin transport is defected not conjugation
- Striking brown-to-black discoloration of liver
-
Duchenne Muscular Distrophy
Difficiency of dystrophin protein - MD (X-linked recessive)
-
Edwards' Syndrome
- Trisomy 18
- Rocker-bottom feet, low ears, small lower jaw, heart disease
-
Ehler's-Danlos
Defective collagen
-
Eisenmenger's Complex
Late cyanotic shunt (R --> L) pulmonary HTN & RHV secondary to long standing VSD, ASD or PDA
-
Erb-Duchenne Palsy
Trauma to superior trunk of brachial plexus - Waiter's Tip
-
Ewing Sarcoma
Malignant undifferentiated round cell tumor of bone in boys <15yo- t11;22
-
Eyrthroplasia of Queyrat
Carcinoma in situ on glans penis
-
Fanconi's Syndrome
Impaired proximal tubular reabsorption secondary to lead poisoning or Tetracycline )glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)
-
Felty's Syndrome
Rheumatoid arthritis, neurtopenia, splenomegaly
-
Gardner's Syndrome
AD = adenomatous polyps of colon, osteomas and soft tissue tumors
-
Gaucher's Disease
- Lysosomal Storage Disease: glucocerbroside deficiency - glucocerebroside accumulation
- Hepatosplenomegaly, femoral head and long bone erosion, anemia
-
Gilbert's Syndrome
Benign congenital hyperbilirubinemia (unconjugated) = decreased glycuronyl transferase act
-
Glanzmann's Thrombasthenia
Defective glycoproteins on platelets = deficient platelet aggregation
-
Goodpasture's
Autoimmune: ab's to glomerular and alveolar basement membranes. Seen in men in their 20's
-
Grave's Disease
Autoimmune hyperthyroidism (TSI): IgG Ab reactive w/ TSH receptor. Low TSH & TRH - High T3/T4
-
Guillain-Barre
Polyneuritis following viral infection / autoimmune (ascending muscle weakness and paralysis; usually self limiting)
-
Hamman-Rich Syndrome
Idiopathic pulmonary fibrosis. Can see honey comb lung
-
Hand-Schuller-Christian
Chronic progressive histiocytosis
-
Hashimoto's Thyroiditis
Autoimmune hypothyroidism. May have transient hyperthyroidism. Low T3/T4 - High TSH
-
Hashitoxicosis
Initial hyperthyroidism in Hashimoto's Thyroiditis that precedes hypothyroidism
-
Henoch-Schonlein purpura
- Hypersensitivity vasculitis = allergic purpura, Lesions have the same age
- Hemorrhagic urticaria (with fever, arthalgias, GI and renal involvement)
- Associated with URI
-
Hirschprung's Disease
Aganglionic megacolon
-
Horner's Syndrome
Ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often secondary to Pancoast tumor)
-
Huntington's (Chromosome 4)
AD: progressive degeneration of caudate nucleus, putamen (striatum) and focal cortex. decreased GABA
-
Jacksonian Seizures
Epileptic events originating in the primary motor cortex (area 4)
-
Job's Syndrome
- Immune deficiency: neutrophils fail to respond to chemotactic stimuli
- Defective neutrophilic chemotactic response = repeated infections
- Commonly seen in light-skinned, red-haired girls
- Increased IgE levels
-
Kaposi Sarcoma
Malignant vascular tumor (HHV8 in homosexual men)
-
Kartagener's Syndrome
Immotile cilia secondary to defective dynein arms - infection, situs inversus, sterility
-
Kawasaki Disease
Mucocutaneous lymph node syndrome in kids (acute necrotizing vasculitis of lips, oral mucosa)
-
Klinefelter's Syndrome
47, XXY: Long arms, Sterile, Hypogonadism
-
Kluver-Bucy
Bilateral lesions of amygdala (hypersexuality; oral behavior)
-
Krukenberg Tumor
Adenocarcinoma w/ signet-ring cell (typically originating from stomach) metastases to ovaries
-
Laennec's Cirrhosis
Alcoholic cirrhosis
-
Lesch-Nyhan
- HGPRT deficiency
- Gout, retardation, self-mutilation
-
Letterer-Siwe
Acute disseminated Langerhans' cell histiocytosis
-
Libman-Sacks
- Endocarditis w/ small vegetations on valve leaflets
- Associated w/ SLE
-
Lou Gehrig's
Amyotrophic Lateral Sclerosis - degeneration of upper and lower motor neurons
-
Mallory-Weis Syndrome
bleeding from esophagogastric lacerations secondary to wretching (alcoholics)
-
Marfan's
Connective tissue defect: defective Fibrillin gene - dissecting aortic aneurysm, subluxation of lenses
-
McArdle's Disease
Type V Glycogenosis - Glycogen storage disease (muscle phyophorylase deficiency = increased glycogen)
-
Meckel's Diverticulum
- Rule of 2's = 2 in long, 2 feet from ileocecum, in 2% of the population
- Embryonic duct origin; may have ectopic tissue: gastric / pancreatic (remnant of vitteline duct/yolk stalk)
-
Meig's Syndrome
Triad: ovarian fibroma, ascites, hydrothorax - associated w/ fibroma of ovaries
-
Menetrier's Disease
Giant hypertropic gastritis (enlarged rugae; plasma protein loss)
-
Monckeberg's Artheriosclerosis
Calcification of media (usually radial and ulnar aa.)
-
Munchausen Syndrome
Factitious disorder (consciously create symptom, but does not know why)
-
Nelson's Syndrome
Primary Adrenal Cushings -- surgical removal of adrenals --> loss of negative feedback to pituitary --> Pituitary Adenoma
-
Niemann-Pick
- Lysosomal Storage Disease (sphingomyelinase deficiency - sphingomyelin accumulation)
- "Foamy histiocytes"
-
Osler-Weber-Rendu Syndrome
Hereditary Hemorrhagic Telangiectasia - seen in Mormon's of Utah
-
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
(AD) Melanin pigmentation of lips, mouth, hand, genitalia, and hamartomatous polyps of small intestine
-
Peyronie's Disease
Subcutaneous fibrosis of dorsum of penis
-
Pick's Disease
2 different diseases
- - Progressive dementia similar to Alzheimer's
- - Constrictive pericarditis - sequel to mediastinal tuberculosis
- Calcium-frosting, unyielding layer - heart chambers may be unable to dilate to receive blood during diastole
-
Plummer's Syndrome
Hyperthyroidism, nodular goiter, absence of eye signs (Plummer's = Grave's - eye signs)
-
Plummer-Vinson
Esophageal webs & iron deficiency anemia, spoon-shaped nails, increased SCCA of esophagus
-
Pompe's Disease
Type II Glycogenosis - Glycogen Storage Disease --> Cardiomegaly (alpha 1,4 Glycoside deficiency: increased Glycogen)
-
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 = seen in young healthy woman
- Phenomenon: secondary to underlying disease (SLE or scleroderma)
-
Reiter's Syndrome
- Urethritis, Conjunctivits, Arthritis
- non-infectious (but often follows infections), HLA-B27, polyarticular
-
Reye's Syndrome
- Microvesicular fatty liver change & encephalopathy
- Secondary to aspirin ingestion in children following viral illness, especially VZV
-
Riedel's Thyroiditis
Idiopathic fibrous replacement of thyroid
-
Rotor Syndrome
- Congenital hyperbilirubinemia (conjugated)
- Similar to Dubin-Johnson, but no discoloration of 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 - hemorrhage and shock usually occurred during delivery
-
Shy-Drager
Parkinsonism w/ autonomic dysfunction and orthostatic hypotension
-
Simmond's Disease
Pituitary cachezia - can occur from either pituitary tumors or Sheehan's
-
Sipple's Syndrome
MEN type IIa - pheochromocytoma, thyroid medullary CA, hyperparathyroidism
-
Sjogren's Syndrome
- Triad: dry eyes, dry mouth, arthritis.
- Increased risk of B-cell lymphoma
-
Spitz Nevus
Juvenile melanoma (always benign)
-
Stein-Leventhal
Polycystic ovary: see amenorrhea; infertility; obesity; hirsutism = increased LH secretion
-
Stevens-Johnson Syndrome
Erythema multiforme, fever, malaise, mucosal ulceration (often secondary to infection = mycoplasma or sulfa drugs)
-
Still's Disease
Juvenile rheumatoid arthritis (absence of rheumatoid factor)
-
Takayasu's arthritis
- Aortic arch syndrome
- Loss of carotid, radial or ulnar pulse = pulseless disease. Night sweats
- Common in young Asian females
-
Tay-Sachs
- (AR) Gangliosidosis (hexosaminidase A deficiency --> GM2 ganglioside)
- Cherry red spots of the Macula
-
Tetralogy of Fallot
- VSD
- Overriding Aorta
- Pulmonary artery stenosis
- Right ventricular hypertrophy
-
Tourette's Syndrome
- Involuntary actions, both motor and vocal
- Tx w/ Pimozide
-
Turcot's Syndrome
Colon adenomatous polyps plus CNS tumors
-
Turner's Syndrome
45, XO = most common cause of Primary Amenorrhea. No Barr body on buccal smear
-
Vincent's Infection
"Trench mouth" - acute necrotizing ulcerative gingivitis due to Fusobacterium
-
Von Gierke's Disease
Type I Glycogenosis - Glycogen storage disease (G6Ptase deficiency) - Glycogen accumulation
-
Von Hippel-Lindau
- Hemangioma (or hamangioblastoma) = cerebellum, brain stem and retina
- Adenomas of the viscera, especially increased Renal Cell Carcinoma
- Chromosome 3p
-
Von Recklinghausen's
Neurofibromatosis and cafe au lait spots and Lisch nodules (Chromosome 17)
-
Von Recklinghausen's Disease of Bone
Osteitis fibrosa cystica ("brown tumor") secondary to hyperparathyroidism = osteoclastic resorption w/ fibrous replacement
-
Von Willebrand's Disease
(AD) Defect in platelet adhesion secondary to deficiency in vWF, increased aPPT and bleeding time
-
Waldenstrom's macroglobinemia
Proliferation of IgM producing lymphoid cells in men 50-70yo; PAS(+), Dutcher bodies
-
Wallenberg's Syndrome
- Posterior Inferior Cerebellar Artery (PICA) thrombosis - "Medullary Syndrome"
- Ipsilateral: ataxia, facial pain & temp
- Contralateral: body pain & temp
-
Waterhouse-Friderichsen
- Adrenal insufficiency secondary to DIC
- DIC secondary to meningiococcemia
-
Weber's Syndrome
- Paramedian Infarct of Midbrain
- Ipsilateral: Mydriasis
- Contralateral: UMN, paralysis (lower face and body)
-
Wegener's Granulomatosis
Necrotizing granulomatous vasculitis of paranasal sinuses, lung, kidneys etc.
-
Weil's Disease
- Icteric Leptospirosis (non-icteric progress to renal failure and myocarditis)
- Dark field microscopy for dx
-
Wermer's Syndrome
MEN type I = thyroid, parathyroid, adrenal cortex, pancreatic islet, pituitary
-
Wernicke's Aphasia
Sensory aphasia - impaired comprehension
-
Wernicke - Korsakoff Syndrome
Thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleua) - confusion, ataxia, ophthalmoplegia)
-
Whipple's Disease
Malabsorption syndrome (w/ bacteria-laden macrophages) and polyarthritis
-
Wilson's Disease
- Hepatolenticular degeneration (copper accumulation [tx w/ Penicillamine] and decrease in ceruloplasmin)
- Mallory Bodies in the Liver (and also with alcoholic hepatitis & Hyaline change)
- Chromosome 13
-
Wiskott-Aldrich Syndrome
- Immunodifficiency: combined B and T cell deficiency (thrombocytopenia & eczema)
- Decreased IgM w/ Increased IgA
-
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) --> increased acid --> recurrent ulcers
-
Roger's Disease
Interventricular septal defect
-
Barlow's Syndrome
Floppy vale syndrome - woman b/t 20-40 yo
-
Bracht-Wachter Lesions
Minute abscesses found in subacute bilateral endocarditis
-
Lutembacher's Syndrome
Combination of septum secundum atrial septal defect w/ mitral stenosis
-
Schmidt's Syndrome
Autoimmune thyroid disease (Hashimoto's) and insulin-dependent diabetes
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