Disease and syndrome

                                                      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.