Diseases Flashcards
Addison’s Disease
Primary adrenocortical deficiency
Addisonian Anemia
Pernicious anemia
(antibodies to intrinsic factor or parietal cells –> Decrease IF –> decreased Vit B12 –> megaloblastic anemia)
Albrights Syndrome (5)
- Polyostotic fibrous dysplasia
- precocious puberty
- cafe au lait spots
- short stature
- young girls
Alport’s Syndrom
Hereditary Nephritis with nerve deafness
Alzheimer’s
Progressive Dementia
Argyll-Robertson’s Pupil (4)
- Loss of light reflex contriction (contra- or bi- lateral)
- Prostitutes eue- accomodates, but does not react
- Pathognomonic for 3o Syphilis
- Lesion Pretectal region of superiour colliculus
Arnold-Chiari Malformation
Cerebellar tonsil herniation through foramen magnum= see thoracolumbar meningomyelcocele
Barrett’s
- Columnar metaplasia of lower esophagus- (increase risk of adenocarcinoma)
- Constant gastroesophageal reflux
Bartter’s Syndrome
Hyperreninemia
Becker’s Muscular Dystrophy
Similar to Duchenne, but less severe (mutation in dystrophin protein)
Bell’s Palsy
CN VII palsy
Berger’s Disease
IgA nephropathy causing hematuria in kids, usually follows infxn
Bernard-Soulier Disease
Defect in platelet adhesion
(abnormally large platelet and lack of platelet-surface glycoprotein)
Berry Aneurysm (2)
- Circle of Willis (subarachnoid bleed) Anterior Communicating Artery
- Often associated with ADPKD
Bowen’s Disease
Carcinoma in situ on shaft of penis (increases risk of visceral cancer)
Brill-Zinsser Disease
Recurrences of rickettsia prowazaki up to 50 years later
Briquet’s Syndrome (2)
- Somatization Disorder
- Psychological: multiple physical complaints without physical pathology
Broca’s Aphasia (2)
- Motor Aphasia (area 44 and 45)
- intact comprehension
Brown-Sequard
- Semisection of cord
- Contralateral loss pain and temp
- ipsilateral loss of fine touch, UMN
- ipsilateral loss of consc. proprioception
Bruton’s Disease (2)
- X-linked agammaglobinemia
- Decreased B cells
Budd-Chiari (1) and sx (5)
- Post-hepatic venous thrombosis
Sx:
- ab pain
- hepatomegaly
- ascites
- Portal htn
- liver failure
Buerger’s Disease (2)
- Acute inflammation of medium and small arteries of extremities –> painful ischemia–> gangrene
- Seen axclusively in young and middle-aged men who smoke
Burkitt’s Lymphoma (4)
- Small noncleaved cell lymphoma—EBV
- 8:14 translocation
- Seen commonly in jaws, abdomen, retroperitoneal soft tissues
- Starry sky appearance
Caisson Disease
Nitric gas emboli
Chagas’ Disease
Trypansoma infection- cardiomegaly with apical atrophy, achlasia
Chediak-Higashi Disease (1) and sx (4)
(AR) phagocyte deficiency = defect in microtubule with polymerization
- Neutropenia, albinism
- cranial neuropathy
- peripheral neuropathy
- repeated staph and strep infxn
Conn’s Syndrom
Primary Aldosteronism:
HTN, hypokalemia, retain Na+ and H2O, decreased renin
Cori’s Disease
Type III Glycogenosis- glycogen stoarge disease
(debranching enzyme: amylo1,6 glucosidase def. increase glycogen)
Creutzfeldt-Jakob
Prion infection–> cerebellar and cerebral degeneration
Crigler-Najjar Syndrome (3)
- Congenital hyperbilirubinemia (unconjugated)
- Glucuronyl transferase deficiency. Can progress to Kernicterus
- Less severe form will respond to Phenobarbital Therapy
Chron’s Disease (3)
- IBD: ileocecum, transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas
- (contrast to UC: limited to colon, mucosa and submucosa, crypt abscesses, pseudopolyps, increase colon cancer risk)
- Clinically: abdominal Pain and diarrhea; fever; malabsorption; fistula btwn intestinal loops and abdominal structures
Curling’s Ulcer
Acute gastric ulcer associated with severe burns
Cushing’s
- Disease
- Syndrome
- Clinical presentation (6)
- Disease: Hypercorticism 2o to ACTH from pituitary (basophilic adenoma)
- Syndrome- hypercorticism of all other causes (1o adrenal or ectopic)
- Moon face, buffalo hump, purple striae, hirsutism, HTN, hyperglycemia
Cushing’s Ulcer
Acute gastric ulcer associated with CNS trauma
de Quervain’s Thyroiditis
Self-limiting focal destruction (subactue thyroiditis)
Di-George’s Syndrome (3)
- Failure of 3rd and 4th pharyngeal pouches to form: Thymus and Parathyroid
- Thymic hypoplasia–T-cell deficiency
- Hypoparathyroidism–tetany
Down’s Syndrome
Trisomy 21 or translocation–Simian Crease
Dressler’s Syndrome
Post MI Fibrinous Pericarditis (autoimmune)
Dubin-Johnson Syndrom (2)
- Congenital hyperbilirubinemia (conjugated)=bilirubin transport is defective not conjugation
- Striking brown-black discoloration of liver
Duchenne Muscular Dystrophy
Deficiency of dystrophin protein–> MD x-linked recessive
Edward’s Syndrome (2)
- Trisomy 18
- Rocker-bottom feet, low ears, small lower jaw, heart disease
Ehler’s-Danlos
Defective Collagen
Eisenmenger’s Complex
Late cyanotic shunt (R–>L) pulmonary HTN and RVH 2o to long standing VSD, ASD, or PDA
Erb-Duchenne Palsy
Trauma to superior trunk of brachial plexus (Waiter’s Tip)
Ewing Sarcoma
Malignant undifferentiated round cell tumor of bone in boys <15 years– +11;22
Eyrthroplasia of Queyrat
Carcinoma in situ on glans penis
Fanconi’s Syndrome
Impaired proximal tubular reabsorption 2o to lead poisoning or Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)
Felty’s Syndrome
Rheumatoid arthritis, neutropenia, splenomegaly
Gardner’s Syndrome
AD = adenomatous polyps of colon, osteomas and soft tissue tumors
