Agranulocytosis Aplastic Anemia

Atropine-like Side Effects Cardiotoxicity Cartilage Damage in children Cinchonism Coronary Steal Phenomenon Corneal micro deposits Cough Diabetes Insipidus Disulfiram-like effect Extrapyramidal Side Effects Fanconis Syndrome Fatal Hepatotoxicity (necrosis) Gingival Hyperplasia Gray Baby Syndrome Gynecomastia

Clozapine Chloramphenicol NSAIDs Benzene Tricyclics Doxorubicin Daunorubicin Fluoroquinolones (Ciprofloxacin & Norfloxacin) Quinidine Dipyridamole Amiodarone ACE Inhibitors Lithium Metronidazole Sulfonylureas (1st generation) Antipsychotics (Thioridazine, Haloperidol, Chlorpromazine) Tetracycline Valproic Acid Halothane Acetaminophen Phenytoin Chloramphenicol Cimetidine Azoles Spironolactone Digitalis Estrogen & testosterone INH & ethionamide Clomiphine Phenytoin Reserpine & Methyldopa 5Flurouracil (5-FU) Sulfonamides Isoniazid Aspirin Ibuprofen Primaquine Cyclophosphamide Ifosamide (Treat by Mesna & Acetylcysteine Bladder Wash) Isoniazid

Hand Foot Syndrome Hemolytic Anemia in G6PDdeficiency

Hemorrhagic Cystitis

Hepatitis

Hot Flashes, Flushing

Niacin Tamoxifen Ca++ Channel Blockers Prazocin Clonidine withdrawal Amiodarone Hypervitaminosis A OCPs Tetracycline Quinolones Barbiturates Phenytoin Carbamazepine Rifampin Cimetidine Erythromycin Ketoconazole Isoniazid (INH) [remember CEKI] Methicillin NSAIDs (except Aspirin) Furosemide Sulfonamides Calcium Carbonate (CaCo3) Nitroglycerin Industrial exposure tolerance during week loss of tolerance during weekend headache, tach, dizziness upon reexposure Cephaloridine Gentamycin Amphotericin Rifampin Heparin Corticosteroids L-Asparginase Glucocorticoids Lomefloxacin Pefloxacin Methyldopa Bleomycin Amiodarone Phenothiazines Vancomycin (rapid IV) MAOIs

Hypertension: Postural Hypertension: Rebound Increased intra cranial tension ( ICT)

Induce CP450

Inhibit CP450

Interstitial Nephritis

Milk Alkali Syndrome Monday Disease

Nephrotoxicity

Orange Body Fluids Osteoporosis Pancreatitis Photosensitivity Positive Coombs Test Pulmonary Fibrosis Rabbit Syndrome (Perioral tremors) Red Man Syndrome Severe HTN with Tyramine

SLE- Drug Induced [Anti Histone Antibody Characteristic of this]

Chloropromazine Hydralazine Isoniazid Methyldopa Procainamide Quinidine [ remember CHIMP -Q] Antipsychotics (Thioridazine, Haloperidol, Chlorpromazine) Aspirin Quinidine Terfanadine

Tardive Dyskinesia Tinnitus

Torsades de Pontis

Most Common's in medical science

1 Tumor arising from bone in adults Adrenal Medullary Tumor Adults Adrenal Medullary Tumor Children Bacterial Meningitis adults Bacterial Meningitis elderly Bacterial Meningitis newborns Bacterial Meningitis toddlers Bone Tumors Brain Tumor Child Brain Tumor Adult Breast Carcinoma Breast Mass Bug in Acute Endocarditis Bug in debilitated, hospitalized pneumonia pt Bug in Epiglottitis Bug in GI Tract Bug in IV drug user bacteremia / pneumonia Bug in PID Bug in Subacute Endocarditis Cardiac 1 Tumor Adults Cardiac 1 Tumor Child Cardiac Tumor Adults Cardiomyopathy Cause of 2 HTN Cause of Addisons Cause of Congenital Adrenal Hyperplasia Multiple Myeloma Pheochromocytoma Neuroblastoma Neisseria meningitidis Strep pneumoniae E. coli Hib Metasteses from Breast & Prostate Medulloblastoma (cerebellum) Astrocytoma (including Glioblastoma Multiforme) then: mets, meningioma, Schwannoma Invasive Duct Carcinoma Fibrocystic Change (Carcinoma is the most common is postmenopausal women) Staph aureus Klebsiella Hib Bacteroides (2nd E. coli) Staph aureus N. Gonnorrhoeae Strep Viridans Myxoma Ball Valve Rhabdomyoma Metasteses Dilated (Congestive) Cardiomyopathy Renal Disease Autoimmune (2nd infection) 21-Hydroxylase Deficiency (then, 11-)

Cause of Cushings Cause of death in Alzheimer pts Cause of death in Diabetics Cause of Death in SLE pts. Cause of Dementia Cause of Dementia (2nd most common) Cause of food poisoning Cause of mental retardation Cause of mental retardation (2nd most common) Cause of preventable blindness Cause of Pulmonary HTN Cause of SIADH Chromosomal disorder Congenital cardiac anomaly Congenital early cyanosis Coronary Artery thrombosis Demyelinating Disease Dietary Deficiency Disseminated opportunistic infection in AIDS Esophageal cancer Fatal genetic defect in Caucasians Female Tumor Form of Amyloidosis Form of Tularemia Gynecologic malignancy Heart Murmur Heart Valve in bacterial endocarditis Heart Valve in bacterial endocarditis in IV drug users Heart Valve involved in Rheumatic Fever Hereditary Bleeding Disorder Liver 1 Tumor Liver Disease Location of Adult brain tumors Location of Childhood brain tumors Lysosomal Storage Disease Motor Neuron Disease Neoplasm Child Neoplasm Child (2nd most common) Nephrotic Syndrome Opportunistic infection in AIDS Ovarian Malignancy

Exogenous Steroid Therapy (then, 1 ACTH, Adrenal Adenoma, Ectopic ACTH) Pneumonia MI Lupus Nephropathy Type IV (Diffuse Proliferative) Alzheimers Multi-Infarct Dementia Staph aureus Downs Fragile X Chlamydia COPD Small Cell Carcinoma of the Lung Downs VSD (membranous > muscular) Tetralogy of Fallot LAD Multiple Sclerosis Iron CMV (Pneumocystis carinii is most common overall) SCCA Cystic Fibrosis Leimyoma Immunologic (Bence Jones protein in multiple myeloma is also called the Amyloid Light Chain) Ulceroglandular Endometrial Carcinoma Mitral Valve Prolapse Mitral Tricuspid Mitral then Aortic Von Willebrands Disease Hepatoma Alcoholic Liver Disease Above Tentorium Below Tentorium Gauchers ALS Leukemia Medulloblastoma of brain (cerebellum) Membranous Glomerulonephritis PCP Serous Cystadenoma

Ovarian Tumor Pancreatic Tumor Patient with ALL / CLL / AML / CML Patient with Goodpastures Patient with Reiters Pituitary Tumor Primary Hyperparathyroidism Pt. With Hodgkins Pt. With Minimal Change Disease Secondary Hyperparathyroidism Sexually transmitted disease Site of Diverticula Site of metastasis Site of metastasis (2nd most common) Sites of atherosclerosis Skin Cancer Stomach cancer Testicular Tumor Thyroid Cancer Tracheoesophageal Fistula Tumor of Infancy Type of Hodkins Type of Non-Hodgkins Vasculitis (of medium & small arteries) Viral Encephalitis

Hamartoma Adeno (usually in the head) ALL - Child / CLL - Adult over 60 / AML - Adult over 60 / CML - Adult 35-50 Young male Male Prolactinoma (2nd Somatotropic Acidophilic Adenoma) Adenomas (followed by: hyperplasia, then carcinoma) Young Male (except Nodular Sclerosis type Female) Young Child Hypocalcemia of Chronic Renal Failure Chlamydia Sigmoid Colon Regional Lymph Nodes Liver Abdominal aorta > coronary > popliteal > carotid Basal Cell Carcinoma Adeno Seminoma Papillary Carcinoma Lower esophagus joins trachea / upper esophagus blind pouch Hemangioma Mixed Cellularity (versus: lymphocytic predominance, lymphocytic depletion, nodular sclerosis) Follicular, small cleaved Temporal Arteritis HSV

Hallmark Findings
Albumino-Cytologic Dissociation Antiplatelet Antibodies Arachnodactyly Aschoff Bodies Auer Rods Autosplenectomy Babinski Basophilic Stippling of RBCs Bence Jones Protein Guillain-Barre (markedly increased protein in CSF with only modest increase in cell count) idiopathic thrombocytopenic purpura Marfans rheumatic fever acute promyelocytic leukemia (AML type M3) sickle cell anemia UMN lesion lead poisoning multiple myeloma free light chains (either kappa or lambda) Waldenstroms macroglobinemia histiocytosis X (eosinophilic granuloma) Chronic Bronchitis

Birbeck Granules Blue Bloater

Boot-Shaped Heart Bouchards Nodes Boutonnieres Deformity Brown Tumor Brushfield Spots Call-Exner Bodies Cardiomegaly with Apical Atrophy Chancre Chancroid Charcot Triad Charcot-Leyden Crystals Cheyne-Stokes Breathing Chocolate Cysts Chvosteks Sign Clue Cells Codmans Triangle Cold Agglutinins Condyloma Lata Cotton Wool Spots Councilman Bodies Crescents In Bowmans Capsule Currant-Jelly Sputum Curschmanns Spirals Depigmentation Of Substantia Nigra Donovan Bodies Eburnation Ectopia Lentis Erythema Chronicum Migrans Fatty Liver Ferruginous Bodies Ghon Focus / Complex Gowers Maneuver Heberdens Nodes Heinz Bodies Hemorrhagic Urticaria Heterophil Antibodies

Tetralogy of Fallot osteoarthritis (PIP) rheumatoid arthritis hyperparathyroidism Downs granulosa cell tumor Chagas Disease 1 Syphilis Haemophilus ducreyi multiple sclerosis (nystagmus, intention tremor, scanning speech) bronchial asthma cerebral lesion endometriosis Hypocalcemia facial spasm in tetany Gardnerella vaginitis osteosarcoma Mycoplasma pneumoniae infectious mononucleosis 2 Syphilis HTN dying hepatocytes rapidly progressive (crescentic glomerulonephritis)

Klebsiella bronchial asthma Parkinsons

granuloma inguinale (STD) osteoarthritis (polished, ivory-like appearance of bone) Marfans Lyme Disease Alcoholism asbestosis Tuberculosis (1 & 2 , respectively) Duchennes MD use of arms to stand Osteoarthritis (DIP) G6PDH Deficiency Henoch-Schonlein infectious mononucleosis (EBV)

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infectious mononucleosis (EBV) Hirano Bodies Hypersegmented PMNs Hypochromic Microcytic RBCs Jarisch-Herxheimer Reaction Joint Mice Kaussmaul Breathing Keratin Pearls Keyser-Fleischer Ring Kimmelstiel-Wilson Nodules Koilocytes Koplik Spots Lewy Bodies Lines of Zahn Lisch Nodules Lumpy-Bumpy IF Glomeruli McBurneys Sign Michealis-Gutmann Bodies Monoclonal Antibody Spike Myxedema Negri Bodies Neuritic Plaques Neurofibrillary Tangles Non-pitting Edema Notching of Ribs Nutmeg Liver Painless Jaundice Pannus Pautriers Microabscesses Philadelphia Chromosome

Alzheimers Megaloblastic anemia iron-deficiency anemia

Syphilis over-aggressive treatment of an asymptomatic pt. that causes symptoms 2 to rapid lysis osteoarthritis (fractured osteophytes) acidosis SCCA Wilsons diabetic nephropathy HPV measles Parkinsons (eosinophilic inclusions in damaged substantia nigra cells) arterial thrombus neurofibromatosis (von Recklinhausens disease) poststreptococcal glomerulonephritis appendicitis (McBurneys Point is 2/3 of the way from the umbilicus to anterior superior iliac spine) Malakoplakia multiple myeloma this is called the M protein (usually IgG or IgA) MGUS hypothyroidism rabies Alzheimers Alzheimers Myxedema Anthrax Toxin Coarctation of Aorta CHF pancreatic CA (head) rheumatoid arthritis mycosis fungoides (cutaneous T-cell lymphoma) CML ALL

Pick Bodies Pink Puffer Podagra Port-Wine Stain Posterior Anterior Drawer Sign Posterior Anterior Drawer Sign Psammoma Bodies

Picks Disease Emphysema Centroacinar smoking deficiency gout (MP joint of hallux) Hemangioma

Panacinar - 1-antitrypsin

Hemangioma
tearing of the ACL Papillary adenocarcinoma of the thyroid Serous papillary cystadenocarcinoma of the ovary Meningioma Mesothelioma Duchenne muscular dystrophy multiple myeloma 2 Syphilis RMSF paroxysmal nocturnal hemoglobinuria Hodgkins Disease chronic bronchitis Leydig cell tumor multiple myeloma RBCs stacked as poker chips LR Shunt (VSD, PDA) Mitral Regurg LV Failure Pulmonary Stenosis Pulmonary HTN Neisseria meningitidis impressive rash with bugs Downs SLE (also anti-dsDNA) giant cell tumor of bone membranous glomerulonephritis Crohns bowel wall thickening Thalassemia Familial Hypercholesterolemia chronic pyelonephritis gout membranoproliferative glomerulonephritis visceral ca, classically pancreatic (migratory thrombophlebitis) hypocalcemia (carpal spasm) These are two entirely different disease processes and different signs, but they unfortunately have the same name. supraclavicular node enlargement by metastatic carcinoma of the

Pseudohypertrophy Punched-Out Bone Lesions Rash on Palms & Soles Red Morning Urine Reed-Sternberg Cells Reid Index Increased Reinke Crystals Rouleaux Formation S3 Heart Sound

S4 Heart Sound Schwartzman Reaction Simian Crease Smith Antigen Soap Bubble on X-Ray Spike & Dome Glomeruli String Sign on X-ray Target Cells Tendinous Xanthomas Thyroidization of Kidney Tophi Tram-Track Glomeruli Trousseaus Sign

Virchows Node

Warthin-Finkeldey Giant Cells WBC Casts Wire Loop Glomeruli AFP in amniotic fluid or mothers serum Uric Acid

stomach Measles pyelonephritis lupus nephropathy, type IV Spina Bifida Anencephaly Gout Lesch Nyhan Myeloproliferative Disorders Diuretics (Loop & Thiazides) COPD

FEV1/FVC

Named Diseases List

Addisons Disease Addisonian Anemia Albrights Syndrome Alports Syndrome Alzheimers Argyll-Robertson Pupil

primary adrenocortical deficiency pernicious anemia (antibodies to intrinsic factor or parietal cells IF Vit B12 megaloblastic anemia) polyostotic fibrous dysplasia, precocious puberty, caf au lait spots, short stature, young girls hereditary nephritis with nerve deafness progressive dementia loss of light reflex constriction (contralateral or bilateral) Prostitutes Eye - accommodates but does not react
Pathognomonic for 3Syphilis

Arnold-Chiari Malformation Barretts Bartters Syndrome Beckers Muscular Dystrophy Bells Palsy Bergers Disease Bernard-Soulier Disease Berry Aneurysm Bowens Disease Briquets Syndrome Brocas Aphasia Brown-Sequard Brutons Disease Budd-Chiari Buergers Disease Burkitts Lymphoma

cerebellar tonsil herniation columnar metaplasia of lower esophagus ( risk of adenocarcinoma) hyperreninemia similar to Duchenne, but less severe (deficiency in dystrophin protein) CNVII palsy (entire face; recall that UMN lesion only affects lower face) IgA nephropathy defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein) circle of Willis (subarachnoid bleed) often associated with ADPKD carcinoma in situ on shaft of penis ( risk of visceral ca) somatization disorder
psychological: multiple physical complaints without physical pathology

Motor Aphasia intact comprehension hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN) X-linked agammaglobinemia post-hepatic venous thrombosis acute inflammation of small, medium arteries painful ischemia gangrene small noncleaved cell lymphoma EBV

8:14 translocation

Caisson Disease Chagas Disease Chediak-Higashi Disease Conns Syndrome Coris Disease Creutzfeldt-Jakob Crigler-Najjar Syndrome Crohns

Curlings Ulcer Cushings Cushings Ulcer de Quervains Thyroiditis DiGeorges Syndrome Downs Syndrome Dresslers Syndrome Dubin-Johnson Syndrome Duchenne Muscular Dystrophy Edwards Syndrome Ehlers-Danlos Eisenmengers Complex Erb-Duchenne Palsy Ewing Sarcoma Eyrthroplasia of Queyrat Fanconis Syndrome Feltys Syndrome Gardners Syndrome Gauchers Disease

gas emboli Trypansoma infection sleeping disease, cardiomegaly with apical atrophy, achlasia Phagocyte Deficiency: neutropenia, albinism, cranial & peripheral neuropathy repeated infections primary aldosteronism glycogen storage disease (debranching enzyme deficiency) prion infection cerebellar & cerebral degeneration congenital hyperbilirubinemia (unconjugated) glucuronyl transferase deficiency IBD; ileocecum, transmural, skip lesions, lymphocytic infiltrate, granulomas (contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, colon cancer risk) acute gastric ulcer associated with severe burns Disease: hypercorticism 2 to ACTH from pituitary (basophilic adenoma) Syndrome: hypercorticism of all other causes (1 adrenal or ectopic) acute gastric ulcer associated with CNS trauma self-limiting focal destruction (subacute thyroiditis) thymic hypoplasia T-cell deficiency hypoparathyroidism trisomy 21 or translocation Post-MI Fibrinous Pericarditis autoimmune congenital hyperbilirubinemia (conjugated) striking brown-to-black discoloration of the liver (centilobular portion) deficiency of dystrophin protein MD X-linked recessive trisomy 18 rocker-bottom feet, low ears, heart disease defective collagen late cyanotic shunt (RL) pulmonary HTN & RVH 2 to long-standing VSD, ASD, or PDA trauma to superior trunk of brachial plexus Waiters Tip undifferentiated round cell tumor of bone carcinoma in situ on glans penis impaired proximal tubular reabsorption 2 to lead poisoning or Tetracycline
hyperphosphaturia, aminoaciduria, systemic acidosis)

(glycosuria,

rheumatoid arthritis, neutropenia, splenomegaly adenomatous polyps of colon plus osteomas & soft tissue tumors Lysosomal Storage Disease glucocerebrosidase deficiency hepatosplenomegaly, femoral head & long bone erosion, anemia benign congenital hyperbilirubinemia (unconjugated) defective glycoproteins on platelets autoimmune: abs to glomerular & alveolar basement membranes autoimmune hyperthyroidism (TSI) idiopathic polyneuritis (ascending muscle weakness & paralysis; usually self-limiting)

Gilberts Syndrome Glanzmann's Thrombasthenia Goodpastures Graves Disease Guillain-Barre

Hamman-Rich Syndrome Hand-Schuller-Christian Hashimotos Thyroiditis Hashitoxicosis Henoch-Schonlein purpura

idiopathic pulmonary fibrosis chronic progressive histiocytosis autoimmune hypothyroidism initial hyperthyroidism in Hashimotos Thyroiditis that precedes hypothyroidism hypersensivity vasculitis hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement) associated with upper respiratory infections aganglionic megacolon ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2 to a pancoaset tumour) progressive degeneration of caudate nucleus, putamen & frontal cortex; AD epileptic events originating in the primary motor cortex (area 4) immune deficiency: neutrophils fail to respond to chemotactic stimuli malignant vascular tumor (HHV8 in homosexual men) immotile cilia 2 to defective dynein arms infection, situs inversus, sterility mucocutaneous lymph node syndrome (lips, oral mucosa) 47, XXY bilateral lesions of amygdala (hypersexuality; oral behavior) adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the
ovaries

Hirschprungs Disease Horners Syndrome Huntingtons Jacksonian Seizures Jobs Syndrome Kaposi Sarcoma Kartageners Syndrome Kawasaki Disease Klinefelters Syndrome Kluver-Bucy Krukenberg Tumor Laennecs Cirrhosis Lesch-Nyhan Letterer-Siwe Libman-Sacks Lou Gehrigs Mallory-Weis Syndrome Marfans McArdles Disease Meckels Diverticulum Meigs Syndrome Menetriers Disease Monckebergs Arteriosclerosis Munchausen Syndrome Nelsons Syndrome Niemann-Pick Osler-Weber-Rendu Syndrome Pagets Disease Pancoast Tumor Parkinsons Peutz-Jeghers Syndrome

alcoholic cirrhosis HGPRT deficiency gout, retardation, self-mutilation acute disseminated Langerhans cell histiocytosis endocarditis with small vegetations on valve leaflets associated with SLE Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons bleeding from esophagogastric lacerations 2 to wretching (alcoholics) connective tissue defect glycogen storage disease (muscle phosphorylase deficiency) rule of 2s: 2 inches long, 2 feet from the ileocecum, in 2% of the population embryonic duct origin; may contain ectopic tissue (gastric, pancreatic, etc.) Triad: ovarian fibroma, ascites, hydrothorax giant hypertrophic gastritis (enlarged rugae; plasma protein loss) calcification of the media (usually radial & ulnar aa.) factitious disorder (consciously creates symptoms, but doesnt know why) 1 Adrenal Cushings surgical removal of adrenals loss of negative feedback to pituitary
Pituitary Adenoma

Lysosomal Storage Disease sphingomyelinase deficiency foamy histiocytes Hereditary Hemorrhagic Telangiectasia abnormal bone architecture (thickened, numerous fractures pain) bronchogenic tumor with superior sulcus involvement Horners Syndrome dopamine depletion in nigrostriatal tracts melanin pigmentation of lips, mouth, hand, genitalia plus hamartomatous polyps of small intestine

Peyronies Disease Picks Disease Plummers Syndrome Plummer-Vinson Pompes Disease Potts Disease Potters Complex Raynauds Reiters Syndrome Reyes Syndrome Riedels Thyroiditis Rotor Syndrome Sezary Syndrome Shavers Disease Sheehans Syndrome Shy-Drager Simmonds Disease Sipples Syndrome Sjogrens Syndrome Spitz Nevus Stein-Leventhal Stevens-Johnson Syndrome Stills Disease Takayasus arteritis Tay-Sachs Tetralogy of Fallot Tourettes Syndrome Turcots Syndrome Turners Syndrome Vincents Infection von Gierkes Disease von Hippel-Lindau von Recklinghausens von Recklinghausens Disease of Bone von Willebrands Disease Waldenstroms macroglobinemia

subcutaneous fibrosis of dorsum of penis progressive dementia similar to Alzheimers hyperthyroidism, nodular goiter, absence of eye signs (Plummers = Graves - eye signs) esophageal webs & iron-deficiency anemia, SCCA of esophagus glycogen storage disease cardiomegaly tuberculous osteomyelitis of the vertebrae renal agenesis oligohydramnios hypoplastic lungs, defects in extremities Disease: recurrent vasospasm in extremities Phenomenon: 2 to underlying disease (SLE or scleroderma) urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27,
polyarticular

microvesicular fatty liver change & encephalopathy 2 to aspirin ingestion in children following viral illness idiopathic fibrous replacement of thyroid congenital hyperbilirubinemia (conjugated) similar to Dubin-Johnson, but no discoloration of the liver leukemic form of cutaneous T-cell lymphoma (mycosis fungoides) aluminum inhalation lung fibrosis postpartum pituitary necrosis parkinsonism with autonomic dysfunction & orthostatic hypotension pituitary cachexia MEN type IIa (pheochromocytoma, thyroid medulla, parathyroid) triad: dry eyes, dry mouth, arthritis risk of B-cell lymphoma juvenile melanoma (always benign) polycystic ovary erythema multiforme, fever, malaise, mucosal ulceration (often 2 to infection or sulfa drugs) juvenile rheumatoid arthritis (absence of rheumatoid factor) aortic arch syndrome loss of carotid, radial or ulnar pulses gangliosidosis (hexosaminidase A deficiency GM2 ganglioside) VSD, overriding aorta, pulmonary artery stenosis, right ventricular hypertrophy involuntary actions, both motor and vocal adenomatous polyps of colon plus CNS tumors 45, XO trench mouth - acute necrotizing ulcerative gingivitis glycogen storage disease (G6Pase deficiency) hemangioma (or hemangioblastoma) adenomas of the viscera, especially renal cell carcinoma neurofibromatosis & caf au lait spots osteitis fibrosa cystica (brown tumor) 2 to hyperparathyroidism defect in platelet adhesion 2 to deficiency in vWF proliferation of IgM-producing lymphoid cells

Wallenbergs Syndrome Waterhouse-Friderichsen Webers Syndrome Wegeners Granulomatosis Weils Disease Wermers Syndrome Wernickes Aphasia Wernicke-Korsakoff Syndrome Whipples Disease Wilsons Disease Wiskott-Aldrich Syndrome Wolff-Chaikoff Effect Zenkers Diverticulum Zollinger-Ellison

Posterior Inferior Cerebellar Artery (PICA) thrombosis Medullary Syndrome Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp catastrophic adrenal insufficiency 2 to hemorrhagic necrosis (eg, DIC) often 2 to meningiococcemia Paramedian Infarct of Midbrain Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body) necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc. leptospirosis MEN type I (thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary) Sensory Aphasia impaired comprehension thiamine deficiency in alcoholics; bilateral mamillary bodies (confusion, ataxia, ophthalmoplegia) malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis hepatolenticular degeneration (copper accumulation & decrease in ceruloplasmin) immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia & eczema) high iodine level ( )s thyroid hormone synthesis esophageal; cricopharyngeal muscles above UES gastrin-secreting tumor of pancreas (or intestine) acid intractable ulcers, Increased gastrin +
Increased Acid Output.

SELECTED GENETIC DISORDERS

Disease Category Pathogenesis / Heredity Pathology, Cardinal Symptoms Meconium ileus (caused by thick, mucoid meconium), respiratory bronchiectasis, Pseudomonas pneumonia, pancreatic insufficiency, hypertonic (high Cl- concentration) sweat. Normocytic anemia with neutropenia.

Cystic Fibrosis

Autosomal Recessive. CFTR gene defect on Chrom 7 ------> No Cltransport and failure to hydrate mucous secretions (no NaCl transport) ------> excessively viscous mucoid exocrine secretions

Fanconi Anemia

Autosomal Recessive congenital pancytopenia.

Short stature,

microcephaly, hypogenitalism, strabismus, anomalies of the thumbs, radii, and kidneys, mental retardation, and microphthalmia.
Hartnup's Disease Autosomal Recessive. Defect in GI uptake of neutral amino acids -----> malabsorption of tryptophan (niacin precursor) ------> niacin deficiency among other things. Pellagra-like syndrome (diarrhea, dementia, dermatitis), lightsensitive skin rash, temporary cerebellar ataxia. Recurrent sinopulmonary infections (due to impaired ciliary tract). Situs inversus, due to impaired ciliary motion during embryogenesis: lateral transposition of lungs, abdominal and thoracic viscera are on opposite sides of the body as normal. Possible dextrocardia, male sterility. Neurologic defects.

Kartagener's Syndrome

Autosomal Recessive. Defect in dynein arms ------> lost motility of cilia

Pyruvate Dehydrogenase Deficiency

Autosomal Recessive. Pyruvate Dehydrogenase deficiency ------> buildup of lactate and pyruvate -----> lactic acidosis.

Treatment: Increase intake of ketogenic nutrients (leucine, lysine) ------> increase formation of AcetylCoA from other sources.
Dry skin, melanomas, pre-malignant lesions,

Xeroderma Pigmentosum

Autosomal Recessive. Defect in DNA repair, inability to repair

thymine dimers resulting from UV- other cancers. light exposure ------> excessive skin Ophthalmic and damage and skin cancer. neurologic abnormalities. Familial Autosomal Hypercholesterolemia Dominant Disorders Autosomal Dominant. LDLReceptor defect. Heterozygous: accelerated atherosclerosis. Homozygous: accelerated atherosclerosis, MI by age 35, xanthomas. Telangiectasias of skin and mucous membranes.

Hereditary Hemorrhagic Telangiectasia (OslerWeber-Rendu Syndrome) Hereditary Spherocytosis

Autosomal Dominant Disorders

Autosomal Dominant.

Autosomal Dominant Disorders

Autosomal Dominant. Band-3 deficiency in RBC membrane ------> spherical shape to cells. Other RBC structural enzyme deficiencies can cause it, too. Autosomal Dominant, 100% penetrance.

Sequestration of spherocytes in spleen -----> hemolytic anemia.

Huntington's Disease

Autosomal Dominant Disorders

Progressive dementia with onset in adulthood, choreiform movements, Genetic defect on Chrom 4 ------ athetosis.

> atrophy of caudate nuclei, putamen, frontal cortex.

Marfan's Syndrome Autosomal Dominant Disorders Autosomal Dominant. Fibrillin deficiency ------> faulty scaffolding in connective tissue (elastin has no anchor). Arachnodactyly, dissecting aortic aneurysms, ectopia lentis (subluxation of lens), mitral valve prolapse. Multiple neurofibromas (Caf au Lait spots) which may become malignant, Lisch nodules (pigmented

Neurofibromatosis (Von Recklinghausen Disease)

Autosomal Dominant Disorders

Autosomal Dominant. NF1 gene defect (no GTPase protein) ------> dysregulation of Ras tumor-

suppressor protein.

hamartomas of the iris).

Increased risk for tumors: pheochromocytoma, Wilms tumor, Rhabdomyosarcoma, leukemias.

Tuberous Sclerosis Autosomal Dominant Disorders Autosomal Dominant. Tubers (glial nodules), seizures, mental retardation. Associated with adenoma sebaceum (facial lesion), myocardial rhabdomyomas, renal angiomyolipomas. (1) Hemangioblastomas of cerebellum, medulla, or retina, (2) adenomas, (3) cysts in visceral organs. High risk for renal cell carcinoma. Severe hypoglycemia. Treatment: Remove fructose from diet.

Von Hippel-Lindau Syndrome

Autosomal Dominant Disorders

Autosomal Dominant, short arm of chromosome 3. Same genetic region is associated with incidence of renal cell carcinoma.

Congenital Fructose Intolerance

Carbohydrate Metabolism Defect

Autosomal Recessive. Aldolase B deficiency ------> buildup of Fructose-1-Phosphate in tissues -----> inhibit glycogenolysis and gluconeogenesis. Autosomal Recessive. Inability to convert galactose to glucose ------> accumulation of galactose in many tissues.

Galactosemia

Carbohydrate Metabolism Defect

Failure to thrive, infantile cataracts, mental retardation. Progressive hepatic failure, cirrhosis, death.

(1) Classic form: Galactose-1phosphate Uridyltransferase deficiency. (2) Rarer form: Galactokinase deficiency.

Galactokinasedeficiency: infantile cataracts are prominent. Treatment: in either

case, remove galactose from diet.

Angelman Syndrome Chromosomal Deletion of part of short arm of chromosome 15, maternal copy. An example of genomic imprinting. Chromosomal 5p-, deletion of the long arm of chromosome 5. Mental retardation, ataxic gait, seizures. Inappropriate laughter.

Cri du Chat Syndrome

"Cry of the cat." Severe mental retardation, microcephaly, cat-like cry. Low birth-weight, round-face, hypertelorism (wide-set eyes), low-set ears, epicanthal folds. Most common cause of mental retardation. Will see epicanthal folds, simian crease, brushfield spots in eyes. Associated syndromes: congenital heart disease, leukemia, premature Alzheimer's disease (same morphological changes). Mental retardation, micrognathia, rockerbottom feet, congenital heart disease, flexion deformities of fingers. Death by 1 year old. Mental retardation, microphthalmia, cleft lip and palate, polydactyly, rocker-bottom feet, congenital heart disease.

Down Syndrome

(Trisomy 21)

Chromosomal Trisomy 21, with risk increasing with maternal age. Familial form (no age-associated risk) is translocation t(21,x) in a minority of cases.

Edward's Syndrome

Chromosomal Trisomy 18

(Trisomy 18)

Patau's Syndrome

Chromosomal Trisomy 13

(Trisomy 13)

Similar to and more severe than Edward's Syndrome. Death by 1 year old. Prader-Willi Syndrome Chromosomal Deletion of part of short arm of chromosome 15, paternal copy. An example of genomic imprinting. Mental retardation, short stature, hypotonia, obesity and huge appetite after infancy. Small hands and feet, hypogonadism. Second most common cause of mental retardation next to Down Syndrome. Macroorchidism (enlarged testes) in males.

Fragile-X Syndrome

Chromosomal Progressively longer tandem repeats on the long arm of the XSex chromosome. The longer the chromosome number of repeats, the worse the syndrome. Tandem repeats tend to accumulate through generations. Chromosomal Non-disjunction of the sex chromosome during Anaphase I of Sex meiosis ------> Trisomy (47,XXY)

Klinefelter's Syndrome (XXY)

chromosome

Hypogonadism, tall stature, gynecomastia. Mild mental retardation. Usually not diagnosed until after puberty. One Barr body seen on buccal smear. Streak gonads, primary amenorrhea, webbed neck, short stature, coarctation of Aorta, infantile genitalia. No mental retardation. No Barr bodies visible on buccal smear. Usually phenotypically normal. May see

Turner's Syndrome (XO)

Chromosomal Non-disjunction of the sex chromosome during Anaphase I of Sex meiosis ------> Monosomy (45,X)

chromosome

XXX Syndrome

Chromosomal Trisomy (47,XXX) and other multiple X-chromosome

abnormalities. Sex chromosome

menstrual abnormalities or mild mental retardation in some cases. Laxity of joints, hyperextensibility of skin, poor wound healing, aneurysms.

Ehlers-Danlos Syndrome

Connective Tissue disease

Various defects in collagen synthesis.

Type-I: Autosomal dominant, mildest form. Type-IV: autosomal dominant. Defect in reticular collagen (type-III) Type-VI: autosomalrecessive. Type-VII: Defect in collagen type I Type-IX: X-linked recessive

Type-I: Diaphragmatic hernia. Common, normal lifeexpectancy. Type-IV: Ecchymoses, arterial rupture. Dangerous due to rupture aneurysms. Type-VI: Retinal detachment, corneal rupture

Osteogenesis Imperfecta

Connective tissue disease

Defects in Collagen Type I formation.

Multiple fractures after birth, blue sclerae, thin skin, progressive deafness in some types (due to abnormal middle ear ossicles).

Type-I is most common; Type-II is most severe; Type-IV is mildest form.

Cori's Disease Glycogen Storage Disease Autosomal Recessive. Debranching Stunted growth, enzyme deficiency (can only break hepatomegaly, down linear chains of glycogen, hypoglycemia. not at branch points) ------> accumulate glycogen in liver,

(Glycogen Storage Disease Type III)

heart, skeletal muscle. McArdle's Disease Glycogen Storage Disease Autosomal Recessive. muscle phosphorylase deficiency (cannot utilize glycogen in skeletal muscle) ------> accumulation of glycogen in skeletal muscle. Autosomal Recessive. alpha-1,4Glucosidase deficiency (cannot break down glycogen) ------> accumulate glycogen in liver, heart, skeletal muscle. Autosomal Recessive. Glucose-6Phosphatase deficiency (cannot break down glycogen) ------> accumulate glycogen in liver and kidney. X-Linked Recessive. Factor VIII deficiency Muscle cramps, muscle weakness, easy fatigability. Myoglobinuria with strenuous exercise. Cardiomegaly, hepatomegaly, and systemic findings, leading to early death.

(Glycogen Storage Disease Type V)

Pompe's Disease

(Glycogen Storage Disease Type II)

Glycogen Storage Disease

Von Gierke's Disease

(Glycogen Storage Disease Type I)

Glycogen Storage Disease

Severe fasting hypoglycemia, hepatomegaly from lots of glycogen in liver.

Hemophilia A (Factor VIII Deficiency)

Hemophilia

Hemorrhage, hematuria, hemarthroses. Prolonged PTT. Milder than Hemophilia A. Hemorrhage, hematuria, hemarthroses. Prolonged PTT. Hemorrhage, similar to hemophilia.

Hemophilia B (Factor IX Deficiency)

Hemophilia

X-Linked Recessive. Factor IX deficiency.

Von Willebrand Disease

Hemophilia

Autosomal dominant and recessive varieties. Von Willebrand Factor deficiency ------> defect in initial formation of platelet plugs, and shorter half-life of Factor VIII in blood.

Type-I: Most mild. Type-II: Intermediate. Type-III: most severe, with recessive inheritance (complete absence).

Ataxia-Telangiectasia

Immune deficiency

Combined Deficiency

Autosomal Recessive. Unknown. Numerous chromosomal breaks and elevated AFP is found. Symptomatic by age 2 years.

Cerebellar ataxia, telangiectasia (enlarged capillaries of face and skin), B and T-Cell deficiencies, IgA deficiency. Recurrent pyogenic infections, Staphylococcus, Streptococcus.

Chdiak-Higashi Syndrome

Immune deficiency

Phagocyte Deficiency

Defect in polymerization of microtubules in neutrophils ------> failure in neutrophil migration and phagocytosis. Also results in failure in lysosomal function in neutrophils. X-Linked (usually) NADPH Oxidase deficiency ------> no formation of peroxides and superoxides ------> no oxidative burst in phagocytes.

Chronic Granulomatous Disease

Immune deficiency

Phagocyte Deficiency

Failure of phagocytes leads to susceptibility to infections, especially Staph Aureus and Aspergillus spp. B and T cells usually remain normal. Selective recurrent Candida infections. Treat with anti-fungal drugs.

Chronic Mucocutaneous Candidiasis

Immune deficiency

T-Cell deficiency specific to Candida.

T-Cell Deficiency
Job's Syndrome Immune deficiency A failure to produce gammaInterferon by T-Helper cells, leading to an increase in TH2 cells (no negative feedback) ------> excessively high levels of IgE. High histamine levels, eosinophilia. Recurrent cold (non-inflammatory) Staphylococcal abscesses (resulting from high histamine), eczema. The most common congenital immune deficiency. There also exists selective IgM and IgG deficiencies, but they

Phagocyte Deficiency

Selective IgA Deficiency

Immune deficiency

IgA deficiency may be due to a failure of heavy-chain gene switching.

B-Cell Deficiency

are less common. Severe Combined Immunodeficiency (SCID) Immune deficiency Autosomal Recessive. Adenosine Deaminase deficiency ------> accumulation of dATP ------> inhibit ribonucleotide reductase -----> decrease in DNA precursors Severe deficiency in both humoral and cellular immunity, due to impaired DNA synthesis. Bone marrow transplant may be helpful in treatment. T-Cell deficiency from no thymus. Hypocalcemic tetany from primary parathyroid deficiency. In infancy, recurrent pyogenic infections, eczema, thrombocytopenia, excessive bleeding. IgG levels remain normal. Recurrent pyogenic infections after 6 months (when maternal antibodies wear off). Can treat with polyspecific gamma globulin preparations. Angiokeratomas (skin lesions) over lower trunk, fever, severe burning pain in extremities, cardiovascular and cerebrovascular involvement.

Combined Deficiency

Thymic Aplasia (DiGeorge Syndrome)

Immune deficiency

T-Cell Deficiency
Wiskott-Aldrich Syndrome Immune deficiency

Failure of development of the 3rd and 4th Pharyngeal Pouches ------> agenesis of the thymus and parathyroid glands. Inability to mount initial IgM response to the capsular polysaccharides of pyogenic bacteria.

Combined Deficiency

X-Linked Agammaglobulinemia (Bruton's Disease)

Immune deficiency

B-Cell Deficiency

X-Linked. Mutation in gene coding for tyrosine kinase causes failure of Pre-B cells to differentiate into B-Cells.

Fabry's Disease

Lysosomal Storage Disease

X-Linked Recessive. alphaGalactosidase A deficiency ------> buildup of ceramide trihexoside in body tissues.

Gaucher's Disease

Lysosomal Storage Disease

Autosomal Recessive. Glucocerebrosidase deficiency -----> accumulation of glucocerebrosides (gangliosides, sphingolipids) in lysosomes throughout the body.

Type-I: Adult form. 80% of cases, retain partial activity. Hepatosplenome galy, erosion of femoral head, mild anemia. Normal lifespan with treatment. Type-II: Infantile form. Severe CNS involvement. Death before age 1. Type-III: Juvenile form. Onset in early childhood, involving both CNS and viscera, but less severe than Type II.

Niemann-Pick Lipidosis

Lysosomal Storage Disease

Autosomal Recessive. Sphingomyelinase deficiency -----> accumulation of sphingomyelin in phagocytes.

Sphingomyelincontaining foamy histiocytes in reticuloendo-thelial system and spleen. Hepatosplenomegaly, anemia, fever, sometimes CNS deterioration. Death by age 3. Similar to but less severe than Hurler Syndrome. Hepatosplenomegaly, micrognathia, retinal degeneration, joint stiffness, mild retardation, cardiac lesions.

Hunter's Syndrome

Lysosomal Storage Disease

X-Linked Recessive. Liduronosulfate sulfatase deficiency ------> buildup of mucopolysaccharides (heparan sulfate and dermatan sulfate)

Hurler's Syndrome

Lysosomal Storage Disease

Autosomal Recessive. alpha-Liduronidase deficiency ------> accumulation of mucopolysaccharides (heparan sulfate, dermatan sulfate) in heart, brain, liver, other organs. Autosomal Recessive. Hexosaminidase A deficiency -----> accumulation of GM2 ganglioside in neurons.

Gargoyle-like facies, progressive mental deterioration, stubby fingers, death by age 10. Similar to Hunter's Syndrome. CNS degeneration, retardation, cherry redspot of macula, blindness (amaurosis). Death before age 4. Depigmentation, pink eyes, increased risk of skin cancer.

Tay-Sachs Disease

Lysosomal Storage Disease

Albinism

Nitrogen Metabolism Defect

Autosomal Recessive. Tyrosinase deficiency ------> inability to synthesize melanin from tyrosine. Can result from a lack of migration of neural crest cells. Autosomal Recessive. Homogentisic Oxidase deficiency (inability to metabolize Phe and Tyr) ------> buildup and urinary excretion of homogentisic acid.

Alkaptonuria

Nitrogen Metabolism Defect

Urine turns dark and black on standing, ochronosis (dark pigmentation of fibrous and cartilage tissues), ochronotic arthritis, cardiac valve involvement. Disease is generally benign. Mental retardation, ectopia lentis, sparse blond hair, genu valgum, failure to thrive, thromboembolic episodes, fatty changes of liver.

Homocystinuria

Nitrogen Metabolism Defect

Autosomal Recessive. Cystathionine synthase defect (either deficiency, or lost affinity for pyridoxine, Vit. B6) ------> buildup of homocystine and deficiency of cysteine.

Treatment: Cysteine supplementation, give excess pyridoxine to

compensate for lost pyridoxine affinity.

Lesch-Nyhan Syndrome Nitrogen Metabolism Defect X-Linked Recessive. HypoxanthineGuanine Phosphoribosyltransferase (HGPRT) deficiency ------> no salvage pathway for purine resynthesis ------> buildup of purine metabolites Autosomal Recessive. Deficiency of branched chain keto-acid decarboxylase ------> no degradation of branched-chain amino acids ------> buildup of isoleucine, valine, leucine. Hyperuricemia (gout), mental retardation, selfmutilation (autistic behavior), choreoathetosis, spasticity.

Maple Syrup Urine Disease

Nitrogen Metabolism Defect

Severe CNS defects, mental retardation, death. Person smells like maple syrup or burnt sugar. Treatment: remove the amino acids from diet. Symptoms result from accumulation of phenylalanine itself. Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).

Phenylketonuria (PKU)

Nitrogen Metabolism Defect

Autosomal Recessive. Phenylalanine hydroxylase deficiency (cannot break down Phe nor make Tyr) ------> buildup of phenylalanine, phenyl ketones (phenylacetate, phenyl lactate, phenylpyruvate) in body tissues and CNS.

Treatment: remove phenylalanine from diet.

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency RBC Disease X-Linked Recessive. Glucose-6Phosphate Dehydrogenase (G6PD) deficiency ------> no hexose monophosphate shunt ------> deficiency in NADPH ------> inability to maintain glutathione in reduced form, in RBC's Susceptibility to oxidative damage to RBC's, leading to hemolytic anemia. Can be elicited by drugs (primaquine, sulfonamides, aspirin), fava beans (favism). More prevalent in blacks.

Glycolytic enzyme deficiencies

RBC Disease

Autosomal Recessive. Defect in hexokinase, glucose-phosphate isomerase, aldolase, triosephosphate isomerase, phosphateglycerate kinase, or enolase. Any enzyme in glycolysis pathway. Autosomal Recessive.

Hemolytic anemia results from any defect in the glycolysis pathway, as RBC's depend on glycolysis for energy.

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Renal

Numerous, diffuse bilateral cysts formed in the collecting ducts. Associated with hepatic fibrosis. Elevated renin and aldosterone, hypokalemic alkalosis. No hypertension. (1) Cystine deposition throughout body, cystinuria. (2) Defective tubular resorption leads to amino-aciduria, polyuria, glycosuria, chronic acidosis; Hypophosphatemia and Vitamin-D-resistant Rickets. Similar to Fanconi Syndrome Type I, but without the cystinosis. Adult onset osteomalacia, aminoaciduria, polyuria, glycosuria. Numerous, disparate, heterogenous renal cysts

Bartter's Syndrome

Renal

Juxtaglomerular Cell Hyperplasia, leading to primary hyperreninemia.

Fanconi's Syndrome Type I

Renal

Autosomal Recessive. Deficient resorption in proximal tubules.

(Child-onset cystinosis)

Fanconi's Syndrome II

Renal

Autosomal Recessive. Defective resorption in proximal tubules.

(Adult-onset)

Autosomal Dominant Polycystic Kidney

Renal

Autosomal Dominant.

Disease (ADPKD)

Autosomal Dominant Disorders

occurring bilaterally. Onset in adult life. Associated with liver cysts.