1
Q
Addison’s Disease
A
Primary adrenocortical deficiency
2
Q
Addisonian Anemia
A
Pernicious anemia (antibodies to intrinsic factor or parietal cells → ↓IF → ↓Vit B12 → megaloblastic anemia)
3
Q
Albright’s Syndrome
A
Polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls
4
Q
Alport’s Syndrome
A
Hereditary nephritis with nerve deafness
5
Q
Alzheimer’s
A
Progressive dementia
6
Q
Argyll-Robertson Pupil
A
- Loss of light reflex constriction (contralateral or bilateral)
- “Prostitute’s Eye” - accomodates but does not react
- Pathognomonic for 3°Syphilis
- Lesion pretectal region of superior colliculus
7
Q
Arnold-Chiari Malformation
A
Cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele
8
Q
Barrett’s
A
Columnar metaplasia of lower esophagus (↑ risk of adenocarcinoma)- constant gastroesophageal reflux
9
Q
Bartter’s Syndrome
A
Hyperreninemia
10
Q
Becker’s Muscular Dystrophy
A
Similar to Duchenne, but less severe (mutation, not a deficiency, in dystrophin protein
11
Q
Bell’s Palsy
A
CN VII palsy (entire face; recall that UMN lesion only affects lower face)
12
Q
Berger’s Disease
A
IgA nephropathy causing hematuria in kids, usually following infection
13
Q
Bernard-Soulier Disease
A
Defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)
14
Q
Berry Aneurysm
A
- Circle of Willis (subarachnoid bleed) Anterior Communicating artery
- Often associated with ADPKD
15
Q
Bowen’s Disease
A
Carcinoma in situ on shaft of penis (↑ risk of visceral ca) [compare w/ Queyrat]
16
Q
Brill-Zinsser Disease
A
Recurrences of rickettsia prowazaki up to 50 years later
17
Q
Briquet’s Syndrome
A
- Somatization disorder
- Psychological: multiple physical complaints without physical pathology
18
Q
Broca’s Aphasia
A
Motor Aphasia (area 44 & 45) intact comprehension
19
Q
Brown-Sequard
A
Hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN / ipsilateral loss of conscious propioception)
20
Q
Bruton’s Disease
A
X-linked agammaglobinemia (↓ B cells)
21
Q
Budd-Chiari
A
Post-hepatic venous thrombosis = abdominal pain; hepatomegaly; ascites; portal HTN; liver failure
22
Q
Buerger’s Disease
A
- Acute inflammation of medium and small arteries of extremities → painful ischemia → gangrene
- Seen almost exclusively in young and middle-aged men who smoke
23
Q
Burkitt’s Lymphoma
A
- Small noncleaved cell lymphoma - EBV
- 8:14 translocation
- Seen commonly in jaws, abdomen, retroperitoneal soft tissues
- Starry sky appearance
24
Q
Caisson Disease
A
Nitric gas emboli
25
Chagas' Disease
Trypanosoma infection - cardiomegaly with atypical atrophy, achalasia
26
Chediak-Higashi Disease
- (AR) Phagocyte Deficiency = defect in microtubule polymerization
- Neutropenia, albinism, cranial & peripheral neuropathy & repeated infections w/ strep & staph
27
Conn's Syndrome
Primary Aldosteronism: HTN; retain Na+ & H2O; hypokalemia (causing alkalosis); ↓ renin
28
Cori's Disease
Type III Glycogenosis – Glycogen storage disease (debranching enz: amylo 1,6 glucosidase def. ↑ Glycogen)
29
Creutzfeldt-Jakob
Prion infection → cerebellar & cerebral degeneration
30
Crigler-Najjar Syndrome
- Congenital hyperbilirubinemia (unconjugated)
- Glucuronyl transferase deficiency. Can progress to Kernicterus
- Less severe form will respond to Phenobarbital therapy
31
Crohn's
- IBD; ileocecum, transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas
- (contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, ↑ colon cancer risk)
- Clinically: ab pain & diarrhea; fever; malabsorption; fistulae b/t intestinal loops & abd structures
32
Curlin's Ulcer
Acute gastric ulcer associated with severe burns
33
Cushing's
- Disease: Hypercorticism 2° to ↑ ACTH from pituitary (basophilic adenoma)
- Syndrome: hypercorticism of all other causes (1° adrenal or ectopic)
- moon face; buffalo hump; purple striae; hirsutism; HTN; hyperglycemia
34
Cushing's Ulcer
Acute gastric ulcer associated with CNS trauma
35
de Quervain's Thyroiditis
Self-limiting focal destruction (subacute thryoiditis)
36
DiGeorge's Syndrome
- Failure of 3rd & 4th pharyngeal pouches formation: Thymus & Parathyroid
- Thymic hypoplasia → T-cell deficiency
- Hypoparathyroidism → Tetany
37
Down's Syndrome
Trisomy 21 or translocation - Simian Crease
38
Dressler's Syndrome
Post-MI Fibrinous Pericarditis (autoimmune)
39
Dubin-Johnson Syndrome
- Congenital hyperbilirubinemia (conjugated) = bilirubin transposrt is defective not conjugation
- Striking brown-to-black discoloration of the liver
40
Duchenne Muscular Dystrophy
Deficiency of dystrophin protein → MD (X-linked recessive)
41
Edwards' Syndrome
- Trisomy 18
| - Rocker-bottom feet, low ears, small lower jaw, heart disease
42
Ehler's-Danlos
Defective collagen
43
Eisenmenger's Complex
Late cyanotic shunt (R→L) pulmonary HTN & RVH 2° to long-standing VSD, ASD, or PDA
44
Erb-Duchenne Palsy
Trauma to superior trunk of brachial plexus - Waiter's Tip
45
Ewing Sarcoma
Malignant undifferentiated round cell tumor of bone in boys <15 years of age - t11;22
46
Erythroplasia of Queyrat
Carcinoma in situ on glans penis
47
Fanconi's Syndrome
Impaired proximal tubular reabsorption 2° to lead poisoning or Tetracycline (glycosuria,
hyperphosphaturia, aminoaciduria, systemic acidosis)
48
Felty's Syndrome
Rheumatoid arthritis, neutropenia, spelenomegaly
49
Gardner's Syndrome
AD = adenomatous polyps of colon, osteomas & soft tissue tumors
50
Gaucher's Disease
- Lysosomal Storage Disease - glucocerebrosidase deficiency - glucocerebroside accumulation
- Hepatosplenomegaly, femoral head & long bone erosion, anemia
51
Gilbert's Syndrome
Benign congenital hyperbilirubinemia (unconjugated) = ↓d glucuronyl transferase activity
52
Glanzmann's Thrombasthenia
Defective glycoproteins on platelets = deficient platelet aggregation
53
Goodpasture's
Autoimmune: ab’s to glomerular & alveolar basement membranes. Seen in men in their 20’s
54
Grave's Disease
Autoimmune hyperthyroidism (TSI): IgG Ab reactive w/ TSH receptors. Low TSH & TRH – High T3 / T4
55
Guillain-Barre
Polyneuritis following viral infection/ autoimmune (ascending muscle weakness & paralysis; usually self-limiting)
56
Hamman-Rich Syndrome
Idiopathic pulmonary fibrosis. Can see honeycomb lung.
57
Hand-Schuller-Christian
Chronic progressive histiocytosis
58
Hashimoto's Thyroiditis
Autoimmune hypothyroidism. May have transient hyperthyroidism. Low T3 /T4 & High TSH
59
Hashitoxicosis
Initial hyperthyroidism in Hashimoto's Thyroiditis that precedes hypothyroidism
60
Henoch-Schonlein purpura
- Hypersensivity vasculitis = allergic purpura. Lesions have the same age.
- Hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement)
- Associated with upper respiratory infections
61
Hirschprung's Disease
Aganglionic megacolon
62
Horner's Syndrome
Ptosis, miosis, anhydrosis (lesion of cervical sympathetic nerves often 2° to a Pancoast tumor)
63
Huntington's (Chromosome 4)
AD: Progressive degeneration of caudate nucleus, putamen (striatum) & frontal cortex ↓ GABA
64
Jacksonian Seizures
Epileptic events originating in the primary motor cortex (area 4)
65
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
- ↑’d IgE levels
66
Kaposi Sarcoma
Malignant vascular tumor (HHV8 in homosexual men)
67
Kartagener's Syndrome
Immotile cilia secondary to defective dynein arms - infection, situs inversus, sterility
68
Kawasaki Disease
Mucocutaneous lymph node syndrome in kids (acute necrotizing vasculitis of lips, oral mucosa)
69
Kleinfelter's Syndrome
47, XXY: Long arms, Sterile, Hypogonadism
70
Kluver-Bucy
Bilateral lesions of amygdala (hypersexuality, oral behavior)
71
Krukenberg Tumor
Adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the ovaries
72
Laennec's Cirrhosis
Alcoholic cirrhosis
73
Lesch-Nyhan
- HGPRT deficiency
| - Gout, retardation, self-mutilation
74
Letterer-Siwe
Acute disseminated Langerhans' cell histiocytosis
75
Libman-Sacks
- Endocarditis with small vegetations on valve leaflets
| - Associated with SLE
76
Lou Gehrig's
Amyotrophic Lateral Sclerosis - degeneration of upper & lower motor neurons
77
Mallory-Weis Syndrome
Bleeding from esophagogastric lacerations secondary to wretching (alcoholics)
78
Marfan's
Connective tissue defect: defective Fibrillin gene - Dissecting aortic aneurysm, subluxation of lenses
79
McArdle's Disease
Type V Glycogenosis - Glycogen storage disease (muscle phosphorylase deficiency = ↑ Glycogen)
80
Meckel's Diverticulum
- Rule of 2's: 2 inches long, 2 feet from the ileocecum, in 2% of the population
- Embryonic duct origin; may have ectopic tissue: gastric/pancreatic - remnant of vitteline duct/yolk stalk
81
Meig's Syndrome
Triad: ovarian fibroma, ascites, hydrothorax - associated with fibroma of ovaries
82
Menetrier's Disease
Giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
83
Monckeberg's Arteriosclerosis
Calcifaction of the media (usually radial & ulnar arteries)
84
Munchausen Syndrome
Factitious disorder (consciously creates symptoms, but doesn't know why)
85
Nelson's Syndrome
Primary Adrenal Cushing's → surgical removal of adrenals → loss of negative feedback to pituitary → Pituitary Adenoma
86
Niemann-Pick
- Lysosomal Storage Disease (sphingomyelinase deficiency – sphingomyelin accumulation)
- "Foamy histocytes"
87
Osler-Weber-Rendu Syndrome
Heredetary Hemorrhagic Telangiectasia. Seen in the Mormons of Utah
88
Paget's Disease
Abnormal bone architecture (thickened, numerous fractures → pain)
89
Pancoast Tumor
Bronchogenic tumor with superior sulcus involvement → Horner’s Syndrome
90
Parkinson's
Dopamine depletion in nigrostriatal tracts
91
Peutz-Jegher's Syndrome (AD)
Melanin pigmentation of lips, mouth, hand, genitalia + hamartomatous polyps of small intestine
92
Peyronie's Disease
Subcutaneous fibrosis of dorsum of penis
93
Pick's Disease - 2 Different Diseases
- 1. Progressive dementia similar to Alzheimer's
- 2. Constrictive pericarditis - sequel to mediastinal tuberculosis
- Calcium-frosting, unyielding layer – heart chambers may be unable to dilate to receive blood during diastole
94
Plummer's Syndrome
Hyperthyroidism, nodular goiter, absence of eye signs (Plummer's = Grave's - eye sign)
95
Plummer-Vinson
Esophageal webs & iron-deficiency anemia, spoon-shaped nails, ↑ Squamous Cell CA of esophagus
96
Pompe's Disease
Type II Glycogenosis – Glycogen storage disease → cardiomegaly (α 1,4 Glucosidase deficiency: ↑ Glycogen)
97
Pott's Disease
Tuberculous osteomyelitis of the vertebrae
98
Potter's Complex
Renal agenesis → oligohydramnios → hypoplastic lungs, defects in extremities
99
Reynaud's
- Disease: recurrent vasospasm in extremities - seen in young, healthy women
- Phenomenon: secondary to underlying disease (SLE or scleroderma)
100
Reiter's Syndrome
Urethritis, conjunctivitis, arthritis - non-infectious (but often follows infections), HLA-B27, polyarticular
101
Reye's Syndrome
- Microvesicular fatty liver change & encephalopathy
| - Secondary to aspirin ingestion in children following viral illness, especially VZV
102
Riedel's Thyroiditis
Idiopathic fibrous replacement of thyroid
103
Rotor Syndrome
- Congenital hyperbilirubinemia (conjugated)
| - Similar to Dubin-Johnson, but no discoloration of the liver
104
Sezary Syndrome
Leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
105
Shaver's Disease
Aluminum inhalation → lung fibrosis
106
Sheehan's Syndrome
Postpartum pituitary necrosis = hemorrhage & shock usually occurred during delivery
107
Shy-Drager
Parkinsonism with autonomic dysfunction & orthostatic hypertension
108
Simmond's Disease
Pituitary cachexia - can occur from either pituitary tumors or Sheehan's
109
Sipple's Syndrome
MEN type IIa = pheocromocytoma, thyroid medullary CA, hyperparathyroidism
110
Sjogren's Syndrome
Triad: dry eyes, dry mouth, arthritis - ↑ risk of B-cell lymphoma
111
Spitz Nevus
Juvenile melanoma (always benign)
112
Stein-Levanthal
Polycystic ovary: amenorrhea, infertility, obesity, hirsutism (↑↑LH secretion)
113
Stevens-Johnson Syndrome
Erythema multiforme, fever, malaise, mucosal ulceration (often secondary to infection = mycoplasma or sulfa drugs)
114
Still's Disease
Juvenile rheumatoid arthritis (absence of rheumatoid factor)
115
Takayasu's Arteritis
- Aortic arch syndrome
- Loss of carotid, radial, or ulnar pulses = pulseless disease. Night sweats.
- Common in young Asian females
116
Tay-Sachs (AR)
Gangliosidosis (hexosaminidase A deficiency → GM2 ganglioside) Cherry Red Spots of the Macula
117
Tetrology of Fallot
VSD, overriding aorta, pulmonary artery stenosis, right ventricular hypertrophy
118
Tourette's Syndrome
Involuntary actions, both motor and vocal (treat with Pimazide)
119
Turcot's Syndrome
Colon adenomatous polyps plus CNS tumors
120
Turner's Syndrome
45, XO = most common cause of Primary Amenorrhea. No Barr body on buccal smear.
121
Vincent's Infection
"Trench mouth” – acute necrotizing ulcerative gingivitis due to Fusobacterium
122
Von Gierke's Disease
Type I Glycogenosis – Glycogen storage disease (G6Ptase deficiency) – Glycogen accumulaiton
123
Von Hippel-Lindau
- Hemangioma (or hemangioblastoma) = cerebellum, brain stem, & retina
- Adenomas of the viscera, especially ↑ Renal Cell Carcinoma
- Chromosome 3p
124
Von Recklinhausen's
Neurofibromatosis & cafe au lait spots & Lisch nodules (Chromasome 17)
125
Von Recklinhausen's Disease of Bone
- Osteitis fibrosa cystica ("brown tumor") secondary to hyperparathyroidism = osteoclastic resorption with fibrous replacement
126
Von Willebrand's Disease (AD)
Defect in platelet adhesion secondary to deficiency in vWF. ↑aPPT, ↑ Bleed time
127
Waldenstrom's Macroglobinemia
Proliferation of IgM-producing lymphoid cells in men 50-70 yoa; PAS(+) Dutcher bodies
128
Wallenberg's Syndrome
- Posterior Inferior Cerebellar Artery (PICA) thrombosis - “Medullary Syndrome”
- Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp
129
Waterhouse-Friderichsen
- Adrenal insufficiency secondary to DIC
| - DIC secondary to meningiococcemia
130
Weber's Syndrome
- Paramedian infarct of midbrain
| - Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)
131
Wegener's Granulomatosis
Necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
132
Weil's Disease
- Icteric Leptospirosis (non-icteric progresses to renal failure & myocarditis)
- Dark field microscopy for diagnosis
133
Wermer's Syndrome
MEN type I = thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary
134
Wernicke's Aphasia
Sensory Aphasia - impaired comprehension
135
Wernicke-Korsakoff Syndrome
Thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleua) (confusion, ataxia,
ophthalmoplegia)
136
Whipple's Disease
Malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis
137
Wilson's Disease
- Hepatolenticular degeneration (copper accumulation [treat with Penicillamine] & decrease in ceruloplasmin)
- Mallory Bodies in the Liver & also w/ alcoholic hepatitis & Hyaline change
- Chromosome 13
138
Wiskott-Aldrich Syndrome
- Immunodeficiency: combined B- & T-cell deficiency (thrombocytopenia & eczema)
- ↓ IgM w/ ↑ IgA
139
Wolff-Chaikoff Effect
High iodine level (−)’s thyroid hormone synthesis
140
Zenker's Diverticulum
Esophageal; cricopharyngeal muscles above UES
141
Zollinger-Ellison
Gastrin-secreting tumor of pancreas (or intestine) → ↑ acid → recurrent ulcers
142
Roger's Disease
Interventricular septal defect
143
Barlow's Syndrome
Mitral valve prolapse syndrome - women between 20-40 years of age
144
Bracht-Wachter Lesions
Minute abscesses found in subacute bacterial endocarditis
145
Lutembacher's Syndrome
Combination of septum secundum atrial septal defect with mitral stenosis
146
Schmidt's Syndrome
Autoimmune thyroid disease (Hashimoto's) & insulin-dependent diabetes
