Diseases 2
Terms
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- AddisonÂ’s Disease
- 1. Primary adrenocortical deficiency
- Addisonian Anemia
- 2. Pernicious anemia (antibodies to intrinsic factor or parietal cells . .IF . .Vit B12 . megaloblastic anemia)
- AlbrightÂ’s Syndrome
- 3. Polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls
- AlportÂ’s Syndrome
- 4. Hereditary nephritis with nerve deafness
- AlzheimerÂ’s
- 5. Progressive dementia
- Argyll-Robertson Pupil
- 6. Loss of light reflex constriction (contralateral or bilateral) 7. .Prostitute’s Eye. . accommodates but does not react 8. Pathognomonic for 3°Syphilis 9. Lesion pretectal region of superior colliculus
- Arnold-Chiari Malformation
- 10. Cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele
- BarrettÂ’s
- 11. Columnar metaplasia of lower esophagus (. risk of adenocarcinoma)- constant gastroesophageal reflux
- BartterÂ’s Syndrome
- 12. Hyperreninemia
- BeckerÂ’s Muscular Dystrophy
- 13. Similar to Duchenne, but less severe (mutation, not a deficiency, in dystrophin protein)
- BellÂ’s Palsy
- 14. CNVII palsy (entire face; recall that UMN lesion only affects lower face)
- BergerÂ’s Disease
- 15. IgA nephropathy causing hematuria in kids, usually following infection
- Bernard-Soulier Disease
- 16. Defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)
- Berry Aneurysm
- 17. Circle of Willis (subarachnoid bleed) Anterior Communicating artery 18. Often associated with ADPKD
- BowenÂ’s Disease
- 19. Carcinoma in situ on shaft of penis (. risk of visceral ca) [compare w/ Queyrat]
- Brill-Zinsser Disease
- 20. Recurrences of rickettsia prowazaki up to 50 yrs later
- BriquetÂ’s Syndrome
- 21. Somatization disorder 22. Psychological: multiple physical complaints without physical pathology
- BrocaÂ’s Aphasia
- 23. Motor Aphasia (area 44 & 45) intact comprehension
- Brown-Sequard
- 24. Hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN / ipsi loss of consc. Proprio)
- BrutonÂ’s Disease
- 25. X-linked agammaglobinemia (. B cells)
- Budd-Chiari
- 26. Post-hepatic venous thrombosis = ab pain; hepatomegaly; ascites; portal HTN; liver failure
- BuergerÂ’s Disease
- 27. Acute inflammation of medium and small arteries of extremities . painful ischemia . gangrene 28. Seen almost exclusively in young and middle-aged men who smoke.
- BurkittÂ’s Lymphoma
- 29. Small noncleaved cell lymphoma EBV 30. 8:14 translocation 31. Seen commonly in jaws, abdomen, retroperitoneal soft tissues 32. Starry sky appearance
- Caisson Disease
- 33. Nitric gas emboli
- Chagas. Disease
- 34. Trypansoma infection - cardiomegaly with apical atrophy, achlasia
- Chediak-Higashi Disease
- 35. (AR) Phagocyte Deficiency = defect in microtubule polymerization 36. Neutropenia, albinism, cranial & peripheral neuropathy & repeated infections w/ strep & staph
- ConnÂ’s Syndrome
- 37. Primary Aldosteronism: HTN; retain Na+ & H2O; hypokalemia (causing alkalosis); . renin
- CoriÂ’s Disease
- 38. Type III Glycogenosis . Glycogen storage disease (debranching enz: amylo 1,6 glucosidase def. . Glycogen)
- Creutzfeldt-Jakob
- 39. Prion infection . cerebellar & cerebral degeneration
- Crigler-Najjar Syndrome
- 40. Congenital hyperbilirubinemia (unconjugated) 41. Glucuronyl transferase deficiency. Can progress to Kernicterus 42. Less severe form will respond to Phenobarbital therapy
- CrohnÂ’s
- 43. IBD; ileocecum, transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas 44. (contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, . colon cancer risk) 45. Clinically: ab pain & diarrhea; fever; malabsorption; fistulae b/t intestinal loops & abd structures
- CurlingÂ’s Ulcer
- 46. Acute gastric ulcer associated with severe burns
- CushingÂ’s
- Disease: Hypercorticism 2° to . ACTH from pituitary (basophilic adenoma) 48. Syndrome: hypercorticism of all other causes (1° adrenal or ectopic) 49. - moon face; buffalo hump; purple striae; hirsutism; HTN; hyperglycemia
- CushingÂ’s Ulcer
- 50. Acute gastric ulcer associated with CNS trauma
- de QuervainÂ’s Thyroiditis
- 51. Self-limiting focal destruction (subacute thyroiditis)
- DiGeorgeÂ’s Syndrome
- 52. Failure of 3rd & 4th pharyngeal pouches formation: Thymus & Parathyroid 53. Thymic hypoplasia . T-cell deficiency 54. Hypoparathyroidism ! Tetany
- DownÂ’s Syndrome
- 55. Trisomy 21 or translocation . Simian Crease
- DresslerÂ’s Syndrome
- 56. Post-MI Fibrinous Pericarditis autoimmune
- Dubin-Johnson Syndrome
- 57. Congenital hyperbilirubinemia ( conjugated) = bilirubin transposrt is defective not conjugation 58. Striking brown-to-black discoloration of the liver
- Duchenne Muscular Dystrophy
- 59. Deficiency of dystrophin protein . MD X-linked recessive
- Edwards. Syndrome
- 60. Trisomy 18 61. Rocker-bottom feet, low ears, small lower jaw, heart disease
- EhlerÂ’s-Danlos
- 62. Defective collagen
- EisenmengerÂ’s Complex
- 63. Late cyanotic shunt (R.L) pulmonary HTN & RVH 2° to long-standing VSD, ASD, or PDA
- Erb-Duchenne Palsy
- 64. Trauma to superior trunk of brachial plexus WaiterÂ’s Tip
- Ewing Sarcoma
- 65. Malignant undifferentiated round cell tumor of bone in boys <15yoa - t11;22
- Eyrthroplasia of Queyrat
- 66. Carcinoma in situ on glans penis
- FanconiÂ’s Syndrome
- 67. Impaired proximal tubular reabsorption 2° to lead poisoning or Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)
- FeltyÂ’s Syndrome
- 68. Rheumatoid arthritis, neutropenia, splenomegaly
- GardnerÂ’s Syndrome
- 69. AD = adenomatous polyps of colon, osteomas & soft tissue tumors
- GaucherÂ’s Disease
- 70. Lysosomal Storage Disease glucocerebrosidase deficiency . glucocerebroside accumulation 71. Hepatosplenomegaly, femoral head & long bone erosion, anemia
- GilbertÂ’s Syndrome
- 72. Benign congenital hyperbilirubinemia (unconjugated) = .d glucuronyl transferase activity
- GlanzmannÂ’s Thrombasthenia
- 73. Defective glycoproteins on platelets = deficient platelet aggregation
- GoodpastureÂ’s 7
- 4. Autoimmune: abÂ’s to glomerular & alveolar basement membranes. Seen in men in their 20Â’s
- GraveÂ’s Disease
- 75. Autoimmune hyperthyroidism (TSI): IgG Ab reactive w/ TSH receptors. Low TSH & TRH . High T3 / T4
- Guillain-Barre
- 76. Polyneuritis following viral infection/ autoimmune (ascending muscle weakness & paralysis; usually self-limiting)
- Hamman-Rich Syndrome
- 77. Idiopathic pulmonary fibrosis. Can see honey comb lung.
- Hand-Schuller-Christian
- 78. Chronic progressive histiocytosis
- HashimotoÂ’s Thyroiditis
- 79. Autoimmune hypothyroidism. May have transient hyperthyroidism. Low T3 /T4 & High TSH
- Hashitoxicosis
- 80. Initial hyperthyroidism in HashimotoÂ’s Thyroiditis that precedes hypothyroidism
- Henoch-Schonlein purpura
- 81. Hypersensivity vasculitis = allergic purpura. Lesions have the same age. 82. Hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement) 83. Associated with upper respiratory infections
- HirschprungÂ’s Disease
- 84. Aganglionic megacolon
- HornerÂ’s Syndrome
- 85. Ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2° to a Pancoast tumor)
- HuntingtonÂ’s (Chromosome 4)
- 86. AD: Progressive degeneration of caudate nucleus, putamen (striatum) & frontal cortex . GABA
- Jacksonian Seizures
- 87. Epileptic events originating in the primary motor cortex (area 4)
- JobÂ’s Syndrome
- 1. Immune deficiency: neutrophils fail to respond to chemotactic stimuli 2. Defective neutrophilic chemotactic response = repeated infections 3. Commonly seen in light-skinned, red-haired girls 88. ..d IgE levels
- Kaposi Sarcoma
- 89. Malignant vascular tumor (HHV8 in homosexual men)
- KartagenerÂ’s Syndrome
- 90. Immotile cilia 2° to defective dynein arms infection, situs inversus, sterility
- Kawasaki Disease
- 91. Mucocutaneous lymph node syndrome in kids (acute necrotizing vasculitis of lips, oral mucosa)
- KlinefelterÂ’s Syndrome 9
- 2. 47, XXY: Long arms, Sterile, Hypogonadism
- Kluver-Bucy
- 93. Bilateral lesions of amygdala (hypersexuality; oral behavior)
- Krukenberg Tumor
- 94. Adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to 95. the ovaries
- LaennecÂ’s Cirrhosis
- 96. Alcoholic cirrhosis
- Lesch-Nyhan
- 97. HGPRT deficiency 98. Gout, retardation, self-mutilation
- Letterer-Siwe
- 99. Acute disseminated Langerhans. cell histiocytosis
- Libman-Sacks
- 100. Endocarditis with small vegetations on valve leaflets
- 101. Associated with SLE
- Lou GehrigÂ’s
- 102. Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons
- Mallory-Weis Syndrome 1
- 03. Bleeding from esophagogastric lacerations 2° to wretching (alcoholics)
- MarfanÂ’s
- 104. Connective tissue defect: defective Fibrillin gene Dissecting aortic aneurysm, subluxation of lenses
- McArdleÂ’s Disease
- 105. Type V Glycogenosis - Glycogen storage disease (muscle phosphorylase deficiency = . Glycogen)
- MeckelÂ’s Diverticulum
- 106. Rule of 2Â’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population 107. Embryonic duct origin; may have ectopic tissue: gastric/pancreatic remnant of vitteline duct/yolk stalk
- MeigÂ’s Syndrome
- 108. Triad: ovarian fibroma, ascites, hydrothorax . associated w/ fibroma of ovaries
- MenetrierÂ’s Disease 1
- 09. Giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
- MonckebergÂ’s Arteriosclerosis
- 110. Calcification of the media (usually radial & ulnar aa.)
- Munchausen Syndrome
- 111. Factitious disorder (consciously creates symptoms, but doesn.t know why)
- NelsonÂ’s Syndrome
- 112. 1° Adrenal Cushings . surgical removal of adrenals . loss of negative feedback to pituitary .
- Pituitary Adenoma
- Niemann-Pick
- 113. Lysosomal Storage Disease (sphingomyelinase deficiency . sphingomyelin accumulation) 114. .Foamy histiocytes.
- Osler-Weber-Rendu Syndrome
- 115. Hereditary Hemorrhagic Telangiectasia. Seen in the MormonÂ’s of Utah.
- PagetÂ’s Disease
- 116. Abnormal bone architecture (thickened, numerous fractures . pain)
- Pancoast Tumor
- 117. Bronchogenic tumor with superior sulcus involvement . HornerÂ’s Syndrome
- ParkinsonÂ’s
- 118. Dopamine depletion in nigrostriatal tracts
- Peutz-JegherÂ’s Syndrome (AD)
- 119. Melanin pigmentation of lips, mouth, hand, genitalia + hamartomatous polyps of small intestine
- PeyronieÂ’s Disease
- 120. Subcutaneous fibrosis of dorsum of penis
- PickÂ’s Disease . 2 Different Diseases
- 121. 1. Progressive dementia similar to AlzheimerÂ’s 122. 1. Constrictive pericarditis . sequel to mediastinal tuberculosis 123. Calcium-frosting, unyielding layer . heart chambers may be unable to dilate to receive blood during diastole
- PlummerÂ’s Syndrome
- 124. Hyperthyroidism, nodular goiter, absence of eye signs (PlummerÂ’s = GraveÂ’s - eye signs)
- Plummer-Vinson
- 125. Esophageal webs & iron-deficiency anemia, spoon-shaped nails, . SCCA of esophagus
- PompeÂ’s Disease
- 126. Type II Glycogenosis . Glycogen storage disease . cardiomegaly (a 1,4 Glucosidase deficiency: . Glycogen)
- PottÂ’s Disease
- 127. Tuberculous osteomyelitis of the vertebrae
- PotterÂ’s Complex
- 128. Renal agenesis . oligohydramnios . hypoplastic lungs, defects in extremities
- RaynaudÂ’s
- 129. Disease: recurrent vasospasm in extremities = seen in young, healthy women 130. Phenomenon: 2° to underlying disease (SLE or scleroderma)
- ReiterÂ’s Syndrome
- 131. Urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27, polyarticular
- ReyeÂ’s Syndrome
- 132. Microvesicular fatty liver change & encephalopathy 133. 2° to aspirin ingestion in children following viral illness, especially VZV
- RiedelÂ’s Thyroiditis
- 134. Idiopathic fibrous replacement of thyroid
- Rotor Syndrome
- 135. Congenital hyperbilirubinemia ( conjugated) 136. Similar to Dubin-Johnson, but no discoloration of the liver
- Sezary Syndrome
- 137. Leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
- ShaverÂ’s Disease
- 138. Aluminum inhalation . lung fibrosis
- SheehanÂ’s Syndrome
- 139. Postpartum pituitary necrosis = hemorrhage & shock usually occurred during delivery
- Shy-Drager
- 140. Parkinsonism with autonomic dysfunction & orthostatic hypotension
- SimmondÂ’s Disease
- 141. Pituitary cachexia . can occur from either pituitary tumors or SheehanÂ’s
- SippleÂ’s Syndrome
- 142. MEN type IIa = pheochromocytoma, thyroid medullary CA, hyperparathyroidism
- SjogrenÂ’s Syndrome
- 143. Triad: dry eyes, dry mouth, arthritis . risk of B-cell lymphoma
- Spitz Nevus
- 144. Juvenile melanoma (always benign)
- Stein-Leventhal
- 145. Polycystic ovary: see amenorrhea; infertility; obesity; hirsutism = ..LH secretion
- Stevens-Johnson Syndrome
- 146. Erythema multiforme, fever, malaise, mucosal ulceration (often 2° to infection = mycoplasma or sulfa drugs)
- StillÂ’s Disease
- 147. Juvenile rheumatoid arthritis (absence of rheumatoid factor)
- TakayasuÂ’s arteritis
- 148. Aortic arch syndrome 149. Loss of carotid, radial or ulnar pulses = pulseless disease. Night sweats. 150. Common in young Asian females
- Tay-Sachs (AR)
- 151. Gangliosidosis (hexosaminidase A deficiency . GM2 ganglioside) Cherry Red Spots of the Macula
- Tetralogy of Fallot
- 152. 1.VSD, 2.overriding aorta, 3.pulmonary artery stenosis, 4.right ventricular hypertrophy
- TouretteÂ’s Syndrome
- 153. Involuntary actions, both motor and vocal Txt w/ Pimozide
- TurcotÂ’s Syndrome
- 154. Colon adenomatous polyps plus CNS tumors
- TurnerÂ’s Syndrome
- 155. 45, XO = most common cause of Primary Amenorrhea. No Barr body on buccal smear.
- VincentÂ’s Infection
- 156. .Trench mouth. . acute necrotizing ulcerative gingivitis due to Fusobacterium
- Von GierkeÂ’s Disease
- 157. Type I Glycogenosis . Glycogen storage disease (G6Ptase deficiency) . Glycogen accumulaiton
- Von Hippel-Lindau
- 158. Hemangioma (or hemangioblastoma) = cerebellum, brain stem, & retina 159. Adenomas of the viscera, especially . Renal Cell Carcinoma 160. Chromosome 3p
- Von RecklinghausenÂ’s
- 161. Neurofibromatosis & café au lait spots & Lisch nodules (Chromosome 17)
- Von RecklinghausenÂ’s Disease of Bone
- 162. Osteitis fibrosa cystica (.brown tumor.) 2° to hyperparathyroidism = osteoclastic resorption w/ 163. fibrous replacement
- Von WillebrandÂ’s Disease (AD)
- 164. Defect in platelet adhesion 2° to deficiency in vWF. .aPPT, . Bleed time
- WaldenstromÂ’s macroglobinemia
- 165. Proliferation of IgM-producing lymphoid cells in men 50-70 yoa; PAS(+) Dutcher bodies
- WallenbergÂ’s Syndrome
- 166. Posterior Inferior Cerebellar Artery (PICA) thrombosis .Medullary Syndrome. 167. Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp
- Waterhouse-Friderichsen
- 168. Adrenal insufficiency 2° to DIC 169. DIC 2° to meningiococcemia
- WeberÂ’s Syndrome
- 170. Paramedian Infarct of Midbrain 171. Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)
- WegenerÂ’s Granulomatosis
- 172. Necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
- WeilÂ’s Disease
- 173. Icteric Leptospirosis non-icteric prgresses to renal failure & myocarditis 174. Dark field microscopy for dx
- WermerÂ’s Syndrome
- 175. MEN type I = thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary
- WernickeÂ’s Aphasia
- 176. Sensory Aphasia impaired comprehension
- Wernicke-Korsakoff Syndrome
- 177. Thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleua) (confusion, ataxia, ophthalmoplegia)
- WhippleÂ’s Disease
- 178. Malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis
- WilsonÂ’s Disease
- 179. Hepatolenticular degeneration (copper accumulation [Txt w/ Penicillamine ] & decrease in ceruloplasmin) 180. Mallory Bodies in the Liver & also w/ alcoholic hepatitis & Hyaline change 181. Chromosome 13
- Wiskott-Aldrich Syndrome
- 182. Immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia & eczema) 183. . IgM w/ . IgA
- Wolff-Chaikoff Effect
- 184. High iodine level (-)Â’s thyroid hormone synthesis
- ZenkerÂ’s Diverticulum
- 185. Esophageal; cricopharyngeal muscles above UES
- Zollinger-Ellison
- 186. Gastrin-secreting tumor of pancreas (or intestine) . . acid . recurrent ulcers
- RogerÂ’s Disease
- 187. Interventricular septal defect
- BarlowÂ’s Syndrome
- 188. Floppy vale syndrome . women b/t 20-40 yoa
- Bracht-Wachter Lesions
- 189. Minute abscesses found in subacute bacterial endocarditis
- LutembacherÂ’s Syndrome
- 190. Combination of septum secundum atrial septal defect w/ mitral stenosis
- SchmidtÂ’s Syndrome
- 191. Autoimmnue thyroid Disease (HashimotoÂ’s ) & insulin-dependent diabetes