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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
Hemorrhagic Cystitis
Hepatitis
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
Induce CP450
Inhibit CP450
Interstitial Nephritis
Nephrotoxicity
Orange Body Fluids Osteoporosis Pancreatitis Photosensitivity Positive Coombs Test Pulmonary Fibrosis Rabbit Syndrome (Perioral tremors) Red Man Syndrome Severe HTN with Tyramine
Chloropromazine Hydralazine Isoniazid Methyldopa Procainamide Quinidine [ remember CHIMP -Q] Antipsychotics (Thioridazine, Haloperidol, Chlorpromazine) Aspirin Quinidine Terfanadine
Torsades de Pontis
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
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)
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
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)
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.
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
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. 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
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.
Autosomal Dominant.
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.
Huntington's Disease
Progressive dementia with onset in adulthood, choreiform movements, Genetic defect on Chrom 4 ------ athetosis.
Autosomal Dominant. NF1 gene defect (no GTPase protein) ------> dysregulation of Ras tumor-
suppressor protein.
Autosomal Dominant, short arm of chromosome 3. Same genetic region is associated with incidence of renal cell carcinoma.
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
Failure to thrive, infantile cataracts, mental retardation. Progressive hepatic failure, cirrhosis, death.
(1) Classic form: Galactose-1phosphate Uridyltransferase deficiency. (2) Rarer form: Galactokinase deficiency.
"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)
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
Chromosomal Non-disjunction of the sex chromosome during Anaphase I of Sex meiosis ------> Monosomy (45,X)
chromosome
XXX Syndrome
menstrual abnormalities or mild mental retardation in some cases. Laxity of joints, hyperextensibility of skin, poor wound healing, aneurysms.
Ehlers-Danlos Syndrome
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
Multiple fractures after birth, blue sclerae, thin skin, progressive deafness in some types (due to abnormal middle ear ossicles).
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.
Pompe's Disease
Hemophilia
Hemorrhage, hematuria, hemarthroses. Prolonged PTT. Milder than Hemophilia A. Hemorrhage, hematuria, hemarthroses. Prolonged PTT. Hemorrhage, similar to hemophilia.
Hemophilia
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.
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.
Immune deficiency
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
Immune deficiency
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
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
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
X-Linked Recessive. alphaGalactosidase A deficiency ------> buildup of ceramide trihexoside in body tissues.
Gaucher's 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
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
X-Linked Recessive. Liduronosulfate sulfatase deficiency ------> buildup of mucopolysaccharides (heparan sulfate and dermatan sulfate)
Hurler's Syndrome
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
Albinism
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
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
Autosomal Recessive. Cystathionine synthase defect (either deficiency, or lost affinity for pyridoxine, Vit. B6) ------> buildup of homocystine and deficiency of cysteine.
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)
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.
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.
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
Renal
(Child-onset cystinosis)
Fanconi's Syndrome II
Renal
(Adult-onset)
Renal
Autosomal Dominant.
Disease (ADPKD)