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Diseases 2


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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
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
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
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)
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)
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
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
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
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
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.
78. Chronic progressive histiocytosis
HashimotoÂ’s Thyroiditis
79. Autoimmune hypothyroidism. May have transient hyperthyroidism. Low T3 /T4 & High TSH
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
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
97. HGPRT deficiency 98. Gout, retardation, self-mutilation
99. Acute disseminated Langerhans. cell histiocytosis
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)
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
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
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)
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
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
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)
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
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
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

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