Diseases

Question 1

Addison’s Disease

Answer 1

Primary adrenocortical deficiency

Question 2

Addisonian Anemia

Answer 2

Pernicious anemia

(antibodies to intrinsic factor or parietal cells –> Decrease IF –> decreased Vit B12 –> megaloblastic anemia)

Question 3

Albrights Syndrome (5)

Answer 3

1. Polyostotic fibrous dysplasia
2. precocious puberty
3. cafe au lait spots
4. short stature
5. young girls

Question 4

Alport’s Syndrom

Answer 4

Hereditary Nephritis with nerve deafness

Question 5

Alzheimer’s

Answer 5

Progressive Dementia

Question 6

Argyll-Robertson’s Pupil (4)

Answer 6

1. Loss of light reflex contriction (contra- or bi- lateral)
2. Prostitutes eue- accomodates, but does not react
3. Pathognomonic for 3^o Syphilis
4. Lesion Pretectal region of superiour colliculus

Question 7

Arnold-Chiari Malformation

Answer 7

Cerebellar tonsil herniation through foramen magnum= see thoracolumbar meningomyelcocele

Question 8

Barrett’s

Answer 8

1. Columnar metaplasia of lower esophagus- (increase risk of adenocarcinoma)
2. Constant gastroesophageal reflux

Question 9

Bartter’s Syndrome

Answer 9

Hyperreninemia

Question 10

Becker’s Muscular Dystrophy

Answer 10

Similar to Duchenne, but less severe (mutation in dystrophin protein)

Question 11

Bell’s Palsy

Answer 11

CN VII palsy

Question 12

Berger’s Disease

Answer 12

IgA nephropathy causing hematuria in kids, usually follows infxn

Question 13

Bernard-Soulier Disease

Answer 13

Defect in platelet adhesion

(abnormally large platelet and lack of platelet-surface glycoprotein)

Question 14

Berry Aneurysm (2)

Answer 14

1. Circle of Willis (subarachnoid bleed) Anterior Communicating Artery
2. Often associated with ADPKD

Question 15

Bowen’s Disease

Answer 15

Carcinoma in situ on shaft of penis (increases risk of visceral cancer)

Question 16

Brill-Zinsser Disease

Answer 16

Recurrences of rickettsia prowazaki up to 50 years later

Question 17

Briquet’s Syndrome (2)

Answer 17

1. Somatization Disorder
2. Psychological: multiple physical complaints without physical pathology

Question 18

Broca’s Aphasia (2)

Answer 18

1. Motor Aphasia (area 44 and 45)
2. intact comprehension

Question 19

Brown-Sequard

Answer 19

1. Semisection of cord
2. Contralateral loss pain and temp
3. ipsilateral loss of fine touch, UMN
4. ipsilateral loss of consc. proprioception

Question 20

Bruton’s Disease (2)

Answer 20

1. X-linked agammaglobinemia
2. Decreased B cells

Question 21

Budd-Chiari (1) and sx (5)

Answer 21

1. Post-hepatic venous thrombosis

Sx:

1. ab pain
2. hepatomegaly
3. ascites
4. Portal htn
5. liver failure

Question 22

Buerger’s Disease (2)

Answer 22

1. Acute inflammation of medium and small arteries of extremities –> painful ischemia–> gangrene
2. Seen axclusively in young and middle-aged men who smoke

Question 23

Burkitt’s Lymphoma (4)

Answer 23

1. Small noncleaved cell lymphoma—EBV
2. 8:14 translocation
3. Seen commonly in jaws, abdomen, retroperitoneal soft tissues
4. Starry sky appearance

Question 24

Caisson Disease

Answer 24

Nitric gas emboli

Question 25

Chagas' Disease

Answer 25

Trypansoma infection- cardiomegaly with apical atrophy, achlasia

Question 26

Chediak-Higashi Disease (1) and sx (4)

Answer 26

(AR) phagocyte deficiency = defect in microtubule with polymerization 1. Neutropenia, albinism 2. cranial neuropathy 3. peripheral neuropathy 4. repeated staph and strep infxn

Question 27

Conn's Syndrom

Answer 27

Primary Aldosteronism: HTN, hypokalemia, retain Na+ and H2O, decreased renin

Question 28

Cori's Disease

Answer 28

Type III Glycogenosis- glycogen stoarge disease (debranching enzyme: amylo1,6 glucosidase def. increase glycogen)

Question 29

Creutzfeldt-Jakob

Answer 29

Prion infection--\> cerebellar and cerebral degeneration

Question 30

Crigler-Najjar Syndrome (3)

Answer 30

1. Congenital hyperbilirubinemia (unconjugated) 2. Glucuronyl transferase deficiency. Can progress to Kernicterus 3. Less severe form will respond to Phenobarbital Therapy

Question 31

Chron's Disease (3)

Answer 31

1. IBD: ileocecum, transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas 2. (contrast to UC: limited to colon, mucosa and submucosa, crypt abscesses, pseudopolyps, increase colon cancer risk) 3. Clinically: abdominal Pain and diarrhea; fever; malabsorption; fistula btwn intestinal loops and abdominal structures

Question 32

Curling's Ulcer

Answer 32

Acute gastric ulcer associated with severe burns

Question 33

Cushing's 1. Disease 2. Syndrome 3. Clinical presentation (6)

Answer 33

1. Disease: Hypercorticism 2^o to ACTH from pituitary (basophilic adenoma) 2. Syndrome- hypercorticism of all other causes (1^o adrenal or ectopic) 3. Moon face, buffalo hump, purple striae, hirsutism, HTN, hyperglycemia

Question 34

Cushing's Ulcer

Answer 34

Acute gastric ulcer associated with CNS trauma

Question 35

de Quervain's Thyroiditis

Answer 35

Self-limiting focal destruction (subactue thyroiditis)

Question 36

Di-George's Syndrome (3)

Answer 36

1. Failure of 3rd and 4th pharyngeal pouches to form: Thymus and Parathyroid 2. Thymic hypoplasia--T-cell deficiency 3. Hypoparathyroidism--tetany

Question 37

Down's Syndrome

Answer 37

Trisomy 21 or translocation--Simian Crease

Question 38

Dressler's Syndrome

Answer 38

Post MI Fibrinous Pericarditis (autoimmune)

Question 39

Dubin-Johnson Syndrom (2)

Answer 39

1. Congenital hyperbilirubinemia (conjugated)=bilirubin transport is defective not conjugation 2. Striking brown-black discoloration of liver

Question 40

Duchenne Muscular Dystrophy

Answer 40

Deficiency of dystrophin protein--\> MD x-linked recessive

Question 41

Edward's Syndrome (2)

Answer 41

1. Trisomy 18 2. Rocker-bottom feet, low ears, small lower jaw, heart disease

Question 42

Ehler's-Danlos

Answer 42

Defective Collagen

Question 43

Eisenmenger's Complex

Answer 43

Late cyanotic shunt (R--\>L) pulmonary HTN and RVH 2^o to long standing VSD, ASD, or PDA

Question 44

Erb-Duchenne Palsy

Answer 44

Trauma to superior trunk of brachial plexus (Waiter's Tip)

Question 45

Ewing Sarcoma

Answer 45

Malignant undifferentiated round cell tumor of bone in boys \<15 years-- +11;22

Question 46

Eyrthroplasia of Queyrat

Answer 46

Carcinoma in situ on glans penis

Question 47

Fanconi's Syndrome

Answer 47

Impaired proximal tubular reabsorption 2^o to lead poisoning or Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)

Question 48

Felty's Syndrome

Answer 48

Rheumatoid arthritis, neutropenia, splenomegaly

Question 49

Gardner's Syndrome

Answer 49

AD = adenomatous polyps of colon, osteomas and soft tissue tumors