Diseases Flashcards by Julieanne Ong

Primary Adrencortico Deficiency

Addison’s Disease

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Antibodies to Intrinsic Factor or Parietal cells causing low IF and low Vit. B12. Leads to Megaloblastic Anemia.

Pernicious Anemia

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Polyostotic Fibrous Dysplasia
Precocious Puberty
Cafe au lait spots
Short Stature
Young girl

McCune-Albright’s Syndrome

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Hereditary glomerulonephritis with sensorineural hearing loss.

Collagen Type IV defect
Kidney biopsy: Splitting of glomerular basement membrane

Alport Syndrome

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Progressive Dementia

Senile plaques, neurofibrillary tangles, and reduced cholinergic function.

Alzheimer’s

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Loss of light reflex constriction
Prostitute’s Eye (accommodates, but does not react)
Tertiary Syphilis
Lesion of pretectal superior colliculus

Argyll-Robertson Pupil

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Cerebellar Tonsil herniation through the Foramen Magnum

Arnold-Chiari Malformation

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Columnar metaplasia of the lower esophagus due to GERD. Increases risk of esophageal adenocarcinoma.

Barrett’s Esophagus

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Hyperreninemia

Barter’s Syndrome

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Like Duchenne’s but less severe.

Mutation in dystrophin protein.

Becker’s Muscular Dystrophy

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CN VII Palsy

One side of face involved.

Bell’s Palsy

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IgA Nephropathy causing hematuria in kids after an infection. IgA antibodies for immune complexes in the kidney.

Electron microscopy: mesangial IC deposits
IF microscopy: mesangial IgA deposits

Berger Disease

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Defect in Platelet adhesion due to abnormally large platelets and a lack of surface glycoproteins.

Platelet GPIb-IX deficiency (autosomal recessive).
Low platelet count
Abnormal ristocetin cofactor assay
Giant platelets

Normal PT/INR and PTT
Normal D-dimer, FSPs

Bernard-Soulier Disease

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Circle of Willis - Anterior Communicating Artery aneurysm that can lead to subarachnoid hemorrhage.

Associated with Autosomal Dominant Polycystic Kidney Disease.

Berry Aneurysm

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Squamous Cell Carcinoma in situ on shaft of penis

HPV Types 16 and 18

Bowen’s Disease / Erythroplasia of Queyrat

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Recurrence of rickettsia prowazaki ~50 years later from episode of typhus fever

Brill Zinsser Disease

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Complaints of multiple physical symptoms without physical pathology after extensive testing.

Somatic symptom disorder

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Motor aphasia- intact language comprehension. Impaired language production.

Broca’s Aphasia

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Hemisection of the vertebral cord leading to contralateral loss of pain/temp, ipsilateral loss of fine touch, ipsilateral loss of vibration/proprioception

Brown Sequard Syndrome

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X-linked R disease: deficiency of all mature B-lymphocytes. Lymphoid tissue hypoplasia and recurrent infections.

Low B-cell count
Normal or High T-cell count

Bruton agammaglobulinemia

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Post hepatic venous thrombosis, presenting with abdominal pain.
May present with hepatomegaly, ascites, portal hypertension, or liver failure.

Budd-Chiari Syndrome

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Acute inflammation of medium and small arteries of the extremities causing painful ischemia and gangrene of downstream organs.

Prevalent in young/adult men who smoke

Buerger’s Disease aka Thromboangiitis obliterans

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Small cell non-Hodgkin lymphoma
Associated with EBV
8:14 translocation: c-myc proto-oncogene
Jaws, abdomen, retroperitoneal soft tissues
Starry sky appearance

Burkitt Lymphoma

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Nitric Gas Emboli

Caisson Disease

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Trypanosoma infection leading to myocarditis, cardiomegaly with apical atrophy, toxic megacolon, and achalasia.

Chagas disease

Autosomal recessive disease characterized by phagocyte deficiency due to defect in microtubule polymerization. Neutropenia Albinism CNS/PNS deficit Repeated infections with strep and staph

Chediak-Higashi Disease

``` Primary Aldosteronism Hypertension Hypernatremia Hypervolemia Hypokalemia leads to alkalosis Low renin ```

Conn's Syndrome

Type 3 Glycogen storage disease characterized by deficient debranching enzyme, leading to accumulation of glycogen.

Cori's Disease

Prion Infection causing cerebellar and cerebral degeneration

Creutzfeldt-Jakob Disease

``` Congenital Hyperbilirubinemia (unconjugated bilirubin) Glucuronyl transferase deficiency causing kernicterus and jaundice. ```

Crigler-Najjar Syndrome

``` Inflammatory Bowel Disease Ileocecum area Transmural Skip lesions Cobblestoning Lymphocytic infiltration Granulomas ``` Presents with abdominal pain, diarrhea, fever, malabsorption, intestinal fistulae

Crohn's

Acute gastric ulcer associated with severe burns.

Curling's Ulcer

Hypercortisolism secondary to elevated ACTH from the pituitary gland (basophilic adenoma). Presents with moon facies, buffalo hump, purple striae, hirsutism, hypertension, hyperglycemia.

Cushing's

Acute gastric ulcer associated with CNS trauma

Cushing's Ulcer

Self limiting focal destruction of the thyroid - subacute thyroiditis

de Quervain's Thyroiditis

Failure of 3rd and 4th pharyngeal pouches formation (thymus, parathyroid). Thymic hypoplasia leading to T-cell deficiency. Hypoparathyroidism presenting with tetany.

DiGeorge's Syndrome

Trisomy 21 or translocation. | Presents with simian crease, epicanthal folds, slanting palpebral fissures, hypertelorism.

Down Syndrome

Post-MI Fibrinous Pericarditis

Dressler's Syndrome

Congenital conjugated hyperbilirubinemia causing bilirubin transport defect. Striking brown-black discoloration of the liver.

Dubin-Johnson Syndrome

Deficiency of dystrophin protein d/t X-linked recessive disease.

Duchenne Muscular Dystrophy

``` Trisomy 18 Rocker-bottom feet Low ears Clenched fists Small lower jaw - Micrognathia Congenital heart defects (VSD, ASD, or ToF) ```

Edwards Syndrome

Defective collagen synthesis d/t gene mutations in COL5A1, COL3A1 ``` Aortic dilation/aneurysms/dissection Berry aneurysms Joint hypermobility Bruising Skin hyperextensibility Atrophic scars ```

Ehlers-Danlos Syndrome

Late cyanotic shunting from right to left | Pulmonary hypertension and right ventricular hypertension secondary to long term effects of VSD, ASD, or PDA.

Eisenmenger's Complex

Trauma to the superior trunk of the brachial plexus. | Waiter's Tip

Erb-Duchenne Palsy

Malignant undifferentiated round cell tumor of the bone seen in boys < 15 y/o t11;22

Ewing Sarcoma

``` Impaired proximal tubule reabsorption secondary to lead poisoning or tetracycline use. Glycosuria Hyperphosphaturia Aminoaciduria Systemic Acidosis ```

Fanconi's Syndrome

Rheumatoid arthritis Neutropenia Splenomegaly

Felty's Syndrome

Autosomal Dominant Disorder characterized by adenomatous polyps, osteomas and soft tissue tumors.

Gardner's Syndrome

Lysosomal storage disease characterized by glucocerebrosidase deficiency, causing an accumulation of glucocerebroside. Hepatosplenomegaly Femoral head and long bone erosion Anemia

Gaucher's Disease

Benign congenital unconjugated hyperbilirubinemia from low D-glucuronyl transferase activity

Gilbert's Syndrome

Defective glycoproteins on platelets causing low platelet aggregation

Glanzmann's Thrombastenia

Autoimmune disease characterized by antibodies targeting glomerular and alveolar basement membranes. Typically 20-30 y/o men.

Goodpasture's Syndrome

Autoimmune hyperthyroidism characterized by IgG antibodies reactive with TSH receptors. Low TSH Low TRH High T3/T4

Grave's Disease

Polyneuritis after a viral infection or autoimmune episode. Ascending muscle weakness Paralysis Self-limiting

Guillain Barre Syndrome

Idiopathic pulmonary fibrosis. Honey comb lung on CT.

Hamman-Rich Syndrome

Chronic progressive histiocytosis

Hand-Schuller-Christian

Autoimmune hypothyroidism with potential transient hyperthyroidism. Low T3/T4 High TSH

Hashimoto's Thyroiditis

Initial Hyperthyroidism in Hashimoto's Thyroiditis that precedes hypothyroidism

Thyrotoxicosis

Hypersensitivity vasculitis causing allergic purpura. Lesions all present the same age. Hemorrhagic urticaria with fever, arthralgias, and GI/renal symptoms. May be associated with a URI.

Henoch-Schonlein purpura

Aganglionic megacolon

Hirschsprung's Disease

Ptosis Miosis Anhidrosis D/t lesion of cervical sympathetic nerves often due to a pancoast tumor.

Horner's Syndrome

Autosomal Dominant disease with progressive degeneration of the caudate nucleus, putamen/striatum, and frontal cortex. Low GABA Chromosome 4

Huntington's Disease

Epileptic events originating from the primary motor cortex (area 4)

Jacksonian seizures

Immune deficiency characterized by neutrophil chemotaxis dysfunction, causing repeated infections. High IgE levels Common in light skinned, red-haired girls

Job's Syndrome

Malignant vascular tumor | HHV8 in homosexual men

Kaposi Sarcoma

Immotile cilia secondary to defective dynein arms that causes infection, sterility and situs inversus of the heart.

Kartagener's Syndrome

Mucocutaneous lymph node syndrome in kids. Acute necrotizing vasculitis of lips and oral mucosa. CRASH + BURN

Kawasaki Disease

47, XXY disease Long arms Sterile Hypogonadism

Klinefelter's Syndrome

Bilateral lesions of the amygdala | Hypersexuality and oral behaviors.

Kluber-Bucy

Adenocarcinoma with signet ring cells originating from the stomach, metastasizing to the ovaries

Krukenberg Tumor

Alcoholic cirrhosis

Laennec's cirrhosis

HGPRT deficiency Gout Retardation Self-mutilation

Lesch-Nyhan

Acute disseminated Langerhan's cell histiocytosis

Letterer-Siwe

Endocarditis with small vegetations on the cardiac valve leaflets. Associated with SLE

Libman-Sacks

Diseases Flashcards

(74 cards)