DISEASE'S
AND SYNDROME'S
1)Addison’s Disease
· primary adrenocortical deficiency
2)Addisonian Anemia
· pernicious anemia (antibodies to intrinsic factor or parietal
cells ® ¯IF ® ¯Vit B12 ® megaloblastic anemia)
3)Albright’s Syndrome
· polyostotic fibrous dysplasia, precocious
puberty, café au lait spots, short stature, young girls
4)Alport’s Syndrome
· hereditary nephritis with nerve deafness
5)Alzheimer’s
· progressive dementia
6)Argyll-Robertson Pupil
· loss of light reflex constriction (contralateral or bilateral)
· “Prostitute’s Eye”
- accommodates but does not react
· Pathognomonic for
3°Syphilis
7)Arnold-Chiari Malformation
· cerebellar tonsil herniation
8)Barrett’s
· columnar metaplasia of lower esophagus ( risk of adenocarcinoma)
9)Bartter’s Syndrome
· hyperreninemia
10)Becker’s Muscular
Dystrophy
· similar to Duchenne, but less severe
(deficiency in dystrophin protein)
11)Bell’s Palsy
· CNVII palsy
(entire face; recall that UMN lesion only affects lower face)
12)Berger’s Disease
· IgA nephropathy
13)Bernard-Soulier Disease
· defect in platelet adhesion (abnormally large
platelets & lack of platelet-surface glycoprotein)
14)Berry Aneurysm
· circle of Willis (subarachnoid bleed)
· often associated
with ADPKD
15)Bowen’s Disease
· carcinoma in situ on shaft of penis ( risk of visceral ca)
16)Briquet’sSyndrome
· somatization disorder
· psychological:
multiple physical complaints without physical pathology
17)Broca’s Aphasia
· Motor Aphasia intact comprehension
18)Brown-Sequard
· hemisection of cord (contralateral loss of pain & temp /
ipsilateral loss of fine touch, UMN)
19)Bruton’s Disease
· X-linked agammaglobinemia
20)Budd-Chiari
· post-hepatic venous thrombosis
21)Buerger’s Disease
· acute inflammation of small, medium arteries
® painful ischemia ® gangrene
22)Burkitt’s Lymphoma
· small noncleaved cell lymphoma EBV
· 8:14 translocation
23)Caisson Disease
· gas emboli
24)Chagas’ Disease
· Trypansoma infection sleeping disease, cardiomegaly with apical
atrophy, achlasia
25)Chediak-Higashi Disease
· Phagocyte Deficiency: neutropenia, albinism,
cranial & peripheral neuropathy
· repeated infections
26)Conn’s Syndrome
· primary aldosteronism
27)Cori’s Disease
· glycogen storage disease (debranching enzyme deficiency)
28)Creutzfeldt-Jakob
· prion infection ® cerebellar & cerebral
degeneration
29)Crigler-Najjar Syndrome
· congenital hyperbilirubinemia (unconjugated)
· glucuronyl transferase
deficiency
30)Crohn’s
· IBD; ileocecum, transmural, skip lesions,
lymphocytic infiltrate, granulomas
(contrast to UC: limited to colon, mucosa & submucosa,
crypt abscesses, pseudopolyps, colon
cancer risk)
31)Curling’s Ulcer
· acute gastric ulcer associated with severe
burns
32)Cushing’s
· Disease: hypercorticism 2 ° to ACTH from pituitary (basophilic adenoma)
· Syndrome:
hypercorticism of all other causes (1 ° adrenal or ectopic)
33)Cushing’s Ulcer
· acute gastric ulcer associated with CNS
trauma
34)de Quervain’s Thyroiditis
· self-limiting focal destruction (subacute
thyroiditis)
35)DiGeorge’s Syndrome
· thymic hypoplasia ® T-cell deficiency
· hypoparathyroidism
36)Down’s Syndrome
· trisomy 21 or translocation
37)Dressler’s Syndrome
· Post-MI Fibrinous Pericarditis autoimmune
38)Dubin-Johnson Syndrome
· congenital hyperbilirubinemia (conjugated)
· striking
brown-to-black discoloration of the liver (centilobular portion)
39)Duchenne Muscular
Dystrophy
· deficiency of dystrophin protein ® MD X-linked recessive
40)Edwards’ Syndrome
· trisomy 18
· rocker-bottom feet,
low ears, heart disease
41)Ehler’s-Danlos
· defective collagen
42)Eisenmenger’s Complex
· late cyanotic shunt (R®L) pulmonary HTN &
RVH 2° to long-standing VSD, ASD, or PDA
43)Erb-Duchenne Palsy
· trauma to superior trunk of brachial
plexus Waiter’s Tip
44)Ewing Sarcoma
· undifferentiated round cell tumor of bone
45)Eyrthroplasia of Queyrat
· carcinoma in situ on glans penis
46)Fanconi’s Syndrome
· impaired proximal tubular reabsorption 2 ° to
lead poisoning or Tetracycline
(glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)
47)Felty’s Syndrome
· rheumatoid arthritis, neutropenia,
splenomegaly
48)Gardner’s Syndrome
· adenomatous polyps of colon plus osteomas
& soft tissue tumors
49)Gaucher’s Disease
· Lysosomal Storage Disease glucocerebrosidase deficiency
· hepatosplenomegaly,
femoral head & long bone erosion, anemia
50)Gilbert’s Syndrome
· benign congenital hyperbilirubinemia
(unconjugated)
51)Glanzmann's
Thrombasthenia
· defective glycoproteins on platelets
52)Goodpasture’s
· autoimmune: ab’s to glomerular & alveolar
basement membranes
53)Grave’s Disease
· autoimmune hyperthyroidism (TSI)
54)Guillain-Barre
· idiopathic polyneuritis (ascending muscle weakness & paralysis;
usually self-limiting)
55)Hamman-Rich Syndrome
· idiopathic pulmonary fibrosis
56)Hand-Schuller-Christian
· chronic progressive histiocytosis
57)Hashimoto’s Thyroiditis
· autoimmune hypothyroidism
58)Hashitoxicosis
· initial hyperthyroidism in Hashimoto’s
Thyroiditis that precedes hypothyroidism
59)Henoch-Schonlein purpura
· hypersensivity vasculitis
· hemmorhagic
urticaria (with fever, arthralgias, GI & renal involvement)
· associated with
upper respiratory infections
60)Hirschprung’s Disease
· aganglionic megacolon
61)Horner’s Syndrome
· ptosis, miosis, anhidrosis (lesion of
cervical sympathetic nerves often 2 to a pancoaset tumour)
62)Huntington’s
· progressive degeneration of caudate nucleus,
putamen & frontal cortex; AD
63)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
66)Kaposi Sarcoma
· malignant vascular tumor (HHV8 in homosexual men)
67)Kartagener’s Syndrome
· immotile cilia 2° to defective dynein
arms infection, situs inversus,
sterility
68)Kawasaki Disease
· mucocutaneous lymph node syndrome (lips, oral
mucosa)
69)Klinefelter’s Syndrome
· 47, XXY
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 2 °
to wretching (alcoholics)
78)Marfan’s
· connective tissue defect
79)McArdle’s Disease
· glycogen storage disease (muscle
phosphorylase deficiency)
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 contain ectopic tissue (gastric, pancreatic, etc.)
81)Meig’s Syndrome
· Triad: ovarian fibroma, ascites, hydrothorax
82)Menetrier’s Disease
· giant hypertrophic gastritis (enlarged rugae;
plasma protein loss)
83)Monckeberg’s
Arteriosclerosis
· calcification of the media (usually radial
& ulnar aa.)
84)Munchausen Syndrome
· factitious disorder (consciously creates
symptoms, but doesn’t know why)
85)Nelson’s Syndrome
· 1 ° Adrenal Cushings ® surgical removal of
adrenals ® loss of negative feedback to pituitary ® Pituitary Adenoma
86)Niemann-Pick
· Lysosomal Storage Disease sphingomyelinase deficiency
· “foamy histiocytes”
87)Osler-Weber-Rendu
Syndrome
· Hereditary Hemorrhagic Telangiectasia
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
· melanin pigmentation of lips, mouth, hand,
genitalia plus hamartomatous polyps of small intestine
92)Peyronie’s Disease
· subcutaneous fibrosis of dorsum of penis
93)Pick’s Disease
· progressive dementia similar to Alzheimer’s
94)Plummer’s Syndrome
· hyperthyroidism, nodular goiter, absence of
eye signs (Plummer’s = Grave’s - eye
signs)
95)Plummer-Vinson
· esophageal webs & iron-deficiency
anemia, SCCA of esophagus
96)Pompe’s Disease
· glycogen storage disease ® cardiomegaly
97)Pott’s Disease
· tuberculous osteomyelitis of the vertebrae
98)Potter’s Complex
· renal agenesis ® oligohydramnios ®
hypoplastic lungs, defects in extremities
99)Raynaud’s
· Disease: recurrent vasospasm in extremities
· Phenomenon: 2 ° 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
· 2 ° to aspirin
ingestion in children following viral illness
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
107)Shy-Drager
· parkinsonism with autonomic dysfunction &
orthostatic hypotension
108)Simmond’s Disease
· pituitary cachexia
109)Sipple’s Syndrome
· MEN type IIa (pheochromocytoma, thyroid
medulla, parathyroid)
110)Sjogren’s Syndrome
· triad: dry eyes, dry mouth, arthritis risk of B-cell lymphoma
111)Spitz Nevus
· juvenile melanoma (always benign)
112)Stein-Leventhal
· polycystic ovary
113)Stevens-Johnson Syndrome
· erythema multiforme, fever, malaise, mucosal
ulceration (often 2° to infection 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
116)Tay-Sachs
· gangliosidosis (hexosaminidase A deficiency ® GM2
ganglioside)
117)Tetralogy of Fallot
· VSD, overriding aorta, pulmonary artery
stenosis, right ventricular hypertrophy
118)Tourette’s Syndrome
· involuntary actions, both motor and vocal
119)Turcot’s Syndrome
· adenomatous polyps of colon plus CNS tumors
120)Turner’s Syndrome
· 45, XO
121)Vincent’s Infection
· “trench mouth” - acute necrotizing ulcerative
gingivitis
122)von Gierke’s Disease
· glycogen storage disease (G6Pase deficiency)
123)von Hippel-Lindau
· hemangioma (or hemangioblastoma)
· adenomas of the
viscera, especially renal cell carcinoma
124)von Recklinghausen’s
· neurofibromatosis & café au lait spots
125)von Recklinghausen’s
Disease of Bone
· osteitis fibrosa cystica (“brown tumor”) 2 °
to hyperparathyroidism
126)von Willebrand’s Disease
*defect in platelet
adhesion 2 ° to deficiency in vWF
127)Waldenstrom’s
macroglobinemia
· proliferation of IgM-producing lymphoid cells
128)Wallenberg’s Syndrome
· Posterior Inferior Cerebellar Artery (PICA)
thrombosis “Medullary Syndrome”
· Ipsilateral:
ataxia, facial pain & temp; Contralateral: body pain & temp
129)Waterhouse-Friderichsen
· catastrophic adrenal insufficiency 2 ° to
hemorrhagic necrosis (eg, DIC)
· often 2 ° 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
· leptospirosis
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 (confusion, ataxia,
ophthalmoplegia)
136)Whipple’s Disease
· malabsorption syndrome (with bacteria-laden
macrophages) & polyarthritis
137)Wilson’s Disease
· hepatolenticular degeneration (copper accumulation & decrease in
ceruloplasmin)
138)Wiskott-Aldrich Syndrome
· immunodeficiency: combined B- &T-cell
deficiency (thrombocytopenia & eczema)
140)Wolff-Chaikoff Effect
· high iodine level ( - )’s thyroid hormone
synthesis
141)Zenker’s Diverticulum
· esophageal; cricopharyngeal muscles above UES
142)_Zollinger-Ellison
· gastrin-secreting tumor of pancreas (or
intestine) ® acid ® intractable ulcers,
Increased gastrin + Increased Acid Output.
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