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Syndromes/ B
Syndromes and conditions review
| Intestinal polyposis syndromes? (6) | FAP; HNPCC; Peutz Jegher syndrome; Cronkhite Canada syndrome; Bannayan-Riley-Ruvalcaba syndrome; Cowden disease (last three are very rare) |
| Familial adenomatous Polyposis etiology? | AD mutation in APC gene. |
| Familial adenomatous Polyposis risk? | 90% risk of ca of colon by 45 y/o |
| Familial adenomatous Polyposis associated syndromes and features? | Gardener Syndrome: FAP + extra-intestinal manifestations; soft tissue tumors / Turcot syndrome: FAP + CNS tumors (glioblastoma multiform, GBM) |
| Hereditary Non-Polyposis Colorectal Carcinoma (HNPCC), age and location? | Young age; right colon |
| Hereditary Non-Polyposis Colorectal Carcinoma (HNPCC), associted syndromes? | Lynch syndrome Type I: Site specific colon; Lynch syndrome Type II: high rates of extra-colonic tumors; Muir-Torre: HNPCC + sebaceous gland tumors; Turcot syndrome: HNPCC + GBM |
| Peutz Jegher syndrome features? | polyps (hemartomas; GI and nasal with ch. sinusitis), intessusseption, rectal prolapse, GI bleeding, melanine spots on lips, digits and oral mucosa + anemia and exostosis |
| Cronkhite Canada syndrome | polyps, malabsorption, GI bleeding, hyperpigmentation + alopecia |
| Turcot Syndrome features | Familial adenomatous polyposis (or HNPCC: hereditary non-polyosis colorectal carcinoma) + CNS tumors (GBM) |
| Gardner Syndrome features | FAP features + soft tissue tumors; also may be with medulloblastoma, hepatoblastoma, osteomas; dental anomalies |
| Hereditary disorders of lipoproteins? | Fabry disease, Gaucher (glucocerobrosidase def, crumpled silk histiocytes, namaz), Niemann Pick (sea blue histiocytes), Tangier (orange tonsiles) |
| Fabry disease features | x-linked recessive lipid storage disease; burning extremity pain, multiple angiokeratomas on the lower half of body, corneal opacities, and involvement of kidneys, heart, and brain. |
| Gaucher disease pathophysiology? | AR; Deficiency of the enzyme glucocerebrosidase and progressive accumulation of glucocerebroside within lysosomes of the histiocytes (pathogonomic: "crumpled-silk" histiocytes) |
| Gaucher disease features | Grey-brown pigmentation of the forehead, hands and the peri-tibial region; fractures + marked splenomegaly and pancytopenia |
| Niemann Pick syndrome pathophysiology? | fatty infiltration of spleen, liver and brain |
| Niemann Pick syndrome features? | Like Gaucher's but is characterized by "sea-blue" rather than "crumpled-silk" histiocytes; not confused with Pick disease (dementia) |
| Tangier Disease pathophysiology? | Familial disorder of alpha lipoprotein deficiency |
| Tangier Disease features? | Like Gaucher's (hepatosplenomegaly) + neurologic deficits and pathogonomic orange yellow tonsillar hyperplasia |
| Glycogen Storage Disease Type I etiology and features? | Deficiency of glucose-6-phosphatase: inability of liver to provide glucose from glycogen during fasting: hypoglycemia; lactic acidosis; hypertriglyceridemia; hyperuricemia |
| Glycogen Storage Disease Type II etiology and features? | Acid maltase def.; No hypoglycemia and no hyperlipidemia but heart failure; death by age 2 |
| McCune-Albright syndrome Pathophysiology: | somatic mutations in the c-fox gene |
| McCune-Albright syndrome features: | unilateral skin hyperpigmentation (cafe-au-lait spots) with multifocal fibrous dysplasia on the same side and precocious puberty + multiple endocrinopathies |
| Werdnig Hoffman disease pathophysiology? | Type I spinal motor atrophy (Degenerative disease of motor neuron) |
| Werdnig Hoffman disease features? | Begins in fetal life, progresses in early infancy; Generalized weakness, involvement of face, jaw muscles and tongue (fasciculation); No deep tendon reflexes (like GB and unlike MG) |
| Wiskott-Aldrich syndrome pathophysiology? | Boys, X-linked recessive immunodeficiency disorder; High IgA and IgE and association with Non-Hodgkin lymphomas |
| Wiskott-Aldrich syndrome features? | Bleeding diasthesis + recurrent bacterial sinopulmonary infections (similar to ataxia telangiectasia) + eczema (atopic like dermatitis) |
| Alport syndrome etiology and features? | glomerulonephritis, renal failure, deafness (Similar to gentamicin toxicity) |
| Hurler syndrome pathophysiology? | deficiency of alpha-L iduronidase (most common form of mucopolysaccharidosis) |
| Hurler syndrome (aka: mucopolysaccharidosis type I) features? | Facial deformities, dwarfism (also in achondroplasia), severe bodily and skeletal changes, mental retardation, cloudy corneas, deafness (also in Alport), cardiovascular defects, hepatosplenomegaly, and joint contractures |
| Tall stature in? | Marfan, Klinefelter, homocystinuria, XYY syndrome (acne), Fragile X (MR, large testicles, acromegaly facies) |
| Tall stature and exotic lens in? | Marfan, homocystinuria |
| Osteogenesis imperfecta pathophysiology? | Defect in genes that encode pro-collagen I |
| Osteogenesis imperfecta features? | Extreme bone brittleness and frequent fractures; bluish sclera, brown or bluish misshapen teeth, and conductive hearing loss |
| Ehlers-Danlos syndrome pathophysiology and features? | Mutations affecting pro-collagen III; Hyper-extensible skin and hypermobile joints |
| Achondroplasia pathophysiology and features? | A point mutation in the gene coding for FGF-receptor 3; Most common cause of significant dwarfism |
| Kartagener syndrome? | (aka: primary ciliary dyskinesia) a hereditary syndrome consisting of dextrocardia, bronchiectasis, and sinusitis |
| Chronic, recurrent sinusitis in: | Peutz Jegher (familial intestinal and nasal polyposis with melanine spots), Kartagener (dextrocardia), Wiskott-Aldrich (bleeding tendency and eczema) and ataxia telangectesia; Burton dis (agammaglobulinemia) |
| Deafness in: | Alport (renal failure), Osteogenesis imperfecta (bone brittleness), Waardenburg (partial albinism + different eye colors); Treacher Collins (deformed ears); Hurler (dwarfism, facial abnormalities, MR, cloudy cornea), Refsum, Goldenhar (asymmetric facies) |
| Burton disease pathophysiology and features? | Agammaglobulinemia (lack of B cells); Repeated infections; H. influ, S. pneumonia, mycoplasma (septic arthritis) |
| Refsum disease | Onset in childhood or adolescence; progressive: night blindness, ataxia, scaly skin (ichthyosis), difficulty hearing, and eye problems including cataracts |
| Waardenburg syndrome | deafness and partial albinism (hair and scalp in the forehead); different color of eyes |
| Beckwith-Wiedemann syndrome | Features of babies of diabetic mother + abdominal wall defects and increased risk of abdominal tumors (Wilms) |
| Goldenhar syndrome | asymmetric face, malformed ears, small eyes, hearing loss, a large mouth and mandible + vertebral anomalies |
| Pierre Robin syndrome | micrognathia, glossoptosis, and cleft palate |
| Treacher Collins syndrome | malformation of the external ear (so cannot use hearing aids), deafness, micrognathia, anti-mongoloid eye slanting, and coloboma of the lower eyelids |
| William Syndrome: | Mental retardation, Friendly personality (like Angelman Sx) abnormal facies; hypercalcemia and hypercalciuria; aortic and pulmonary stenosis; microdeletion on chromosome 7 (see the picture) |
| Alagille syndrome | lack of bile ducts, cardiac abnormalities, butterfly vertebrae, and eye abnormalities; 20p12 |
| Von Hippel-Lindau syndrome | hemangioblastomas of the CNS, cysts of the pancreas and kidneys, and renal cell carcinoma |
| Marfan syndrome pathophysiology? | Connective tissue disorder; Mutations resulting in defects in fibrillin |
| Marfan syndrome features? | Tall stature with slender, long fingers; hypermobile joints, subluxation of the lenses; pectus carinatum (or excavatum), aortic aneurysm and aortic insufficiency |
| Turner Pathophysiology? | 45X: Mc; no Barr bodies (inactive X chromosome) on buccal mucosa smear; other genotypes: 45XO, 46XX and 47XXX: gonadal dysgenesis in girls |
| Turner Features: | 1° amenorrhea with childish genitalia, infertility, short stature, Low set ears, short webbed neck, broad chest, CoA, normal intelligence or mildly deficient |
| Klinefelter; gene and features? | 47XXY: tall and slim males with small testes and infertility (Turner version in male! But tall and slim) |
| Noonan | 46XX and 46XY: like Turner in both males and females; right sided CHDs, pectus excavatum |
| XYY syndrome | acne and tall stature but not with precocious puberty |
| Fragile X Sx | Mental retardation (Gene: X): Most common cause of inherited mental retardation in boys and a significant one in girls; large testicles; large body size; acromegaly facies |
| DiGeorge Sx epidemiology | Second most common genetic disease after Down |
| DiGeorge Sx etiology | Microdeletion on 22q11; Developmental defect of third and fourth pharyngeal pouches |
| DiGeorge Sx features | Catch22: Cyanotic CHD, Abnormal facies, Thymic hypoplasia (repeated fungal and viral infections), Cognitive impairment, Hypoparathyroidism so hypocalcemia (with tetany) |
| Prader-Willi etiology and features? | lack of paternal gene on 15q11; Hypotonia, weakness, hypogonadism and obsessive hyperphagia; small hands and feet with tapering fingers |
| Angelman Sx etiology and features? | lack of maternal gene on 15q11; Hypotonia, seizures, midface hypoplasia; intellectual and developmental delay, sleep disturbance, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanour |
| Kallmann Syndrome etiology and features? | Deficient GnRH; deficient FSH and LH, delayed puberty and anosmia |
| Duchenne Muscular Dystrophy epidemiology and etiology? | males, 1/3 spontaneous mutations, 2/3 X-linked recessive; missing structural protein dystrophin: muscle fiber fragility |
| Duchenne Muscular Dystrophy features? | proximal muscle weakness by age 3; child uses hands to climb up; hypertrophy of calf muscle and atrophy of thigh; hyporeflexia; increase CK; death due to cardio-pulmonary infection or CHF |
| Becker's Muscular Dystrophy | Like Duchenne Muscular Dystrophy but milder and onset later in life |
| VACTERL association | Vertebral anomalies; Anal atresia; Cardiovascular anomalies; TE fistula; Esophageal atresia; Renal and Limb anomalies |
| CHARGE association | Colobomus, Heart defects (TOF and septal defects), choanal Atresia, Retardation, GU and Ear anomalies |
| Inborn errors of aminoacid metabolism? | Maple Syrup Urine Disease, Homocystinuria, Tyrosinemia; PKU; Hartnup disease |
| PKU etiology | Disorder of amino acids: phenylalanine hydroxylase deficiency to convert it to tyrosine |
| PKU features | "Retarded Caucasian” (pale skin, blond hair, blue eyes!); Normal at birth but develop musty odor, eczema, hypertonia, mental and growth retardation, tremors, seizures and hypopigmentation (low tyrosine) |
| PKU management | Restrict foods containing phenylalanine (meat, dairy products) |
| Maple syrup urine dis | Urine maple syrup odor; severe mental and motor retardation (poor feeding, vomiting, dehydration, lethargy, hypotonia, seizures, ketoacidosis, opisthotonus, pancreatitis, coma); vit B1 (thiamin) useful in some |
| Homocystinuria; features, cause of death? | urinary tract calculi; mental retardation, hepatomegaly, displacement of the lens of the eye (also in Marfan with tall stature); cardiovascular and skeletal disorders; osteoporosis; thromboembolism (cause of death) |
| Tyrosinemia | Type I and II; diet restriction useful for type II; dysfunction of liver, kidneys and nerves; rickets |
| Hartnup disease | neutral aminoaciduria; tryptophan deficiency (precursor of serotonine, melatonine and niacin) produces pellagra-like symptoms with photosensitive skin lesions, ataxia, and neuropsychiatric disturbances; Nicotinamide substitution |
| Galactosemia | Lifelong disease (unlike lactase deficiency); hepatomegaly, cirrhosis, renal failure, cataracts, brain damage, and ovarian failure |
| Alkaptonuria | urinary secretion of homogentisic acid (causing urine that turns black on standing) and causes arthritis and dark coloration of cartilage |
| Inborn errors of aminoacid metabolism with Ca metabolism disorder? | Tyrosinemia (Rickets + hepatorenal dysfunction) and Homocysteinuria (osteoporosis + hepatorenal dysfunction) |
| Inherited metabolic disorders with and without hepatorenal impairment? | With: Tyrosinemia, Homocysteinuria, galactosemia / Without: PKU (retarded Caucasian), Alkaptonuria (dark urine), Hartnup disease (Neutral Aminoaciduria, pellagra like) |
| Cataract in: | Steroids therpay, congenital rubella syndrome, myotonic dystrophy, galactosemia, Refsum disease (neurologic features + scaly skin) |
| Bartter syndrome etiology | a rare inherited defect in the thick ascending limb of the loop of Henle. Electrolyte (Na, K, H) loosing diuresis |
| Bartter syndrome features | Hypokalemia, alkalosis and normal to low blood pressure; Neonatal type: polyhydramnios + polyuria + hypocalcemia |
| Schwachman Diamond Sx | Like CF (pancreatic insufficiency and repeated infections but normal Sweat test + metaphyseal dysostosis (short stature) |
| Down syndrome associated diseases? | Leukemia: X 15; GI (Hirschsprung, atresia of duodenum, esophagus or anus, TE fistula); Neuro (Early onset Alzheimer, hypotonia, hearing problems, frequent OM); Cryptorchidism, hypothyroidism; AV septal defects |
| WAGR Syndrome etiology | 11p13 deletion |
| WAGR Syndrome features | Wilms tumor; Aniridia; Genital abnormalities; mental Retardation |
| Denys-Drash syndrome | Gonadal dysgenesis and nephropathy leading to renal failure |
| Neurocutaneous syndromes? | Neurofibromatosis type I (peripheral) and II (Central); Sturge Weber syndrome; Tuberous Sclerosis |
| Neurofibromatosis type I features? | tendency to form tumors of CNS, PNS, viscera and skin (prominent peripheral features); cafe-au-lait spots; axillary freckles; neurofibromas; Lisch nodules of the iris; optic glioma; Scoliosis |
| Neurofibromatosis type II features? | Type I lesions not present; Diagnostic: bilateral acaustic neuroma |
| Sturge Weber Features? | port-wine nevus syndrome in V-1 distribution with associated; angiomatous malformations of brain, seizures, contralateral hemiparesis, mental retardation |
| Tuberous Sclerosis features? | Adenoma sebaceum; “ash leaf” hypopigmentation; Seizures; mental retardation, Astrocytoma; Rhabdomyomas; angioleiomyomas |
| Tourette syndrome features? | Multiple phonic and motor tics during the day; onset before 18 y/o (at least for one year with no 3 months disease free); associated with ADHD and OCD |
| Tay-Sachs disease etiology and features? | genetic mutation on the HEXA gene on chromosome 15 and Hexosaminidase A deficiency; gangliosides accumulate in the nerve cells of the brain (cherry red spots on macula); presents as early as 6 m/o; death by early childhood |
| Chediak-Higashi syndrome pathophysiology and features? | rare, inherited disease of the immune and nervous systems; impaired lysosome degranulation with phagosomes, so phagocytosed bacteria are not destroyed by the lysosome's enzymes (abnormal neutrophils); pale-colored hair, eyes, and skin (like PKU!) |
| Fanconi Anemia features? | (different from Fanconi Sx); a rare disorder characterized by pancytopenia , hypoplasia of bone marrow, and patchy brown discoloration of the skin due to deposition of melanin , with other anomalies of the musculoskeletal and genitourinary systems |
| Fanconi syndrome pathophysiology and features? | proximal tubular acidosis (type II) with polyuria, polydipsia and dehydration, hypophosphatemic rickets |
| Juvenile Idiopathic Arthritis (JIA) Dx criteria: | Arthritis for at least 6 weeks before age 16; other causes ruled out |
| Juvenile Idiopathic Arthritis (JIA) Dx types: | Oligoarticular (<5 joints, Mc); Polyarticular (RF + or -); systemic; psoriatic; |
| Causes of parkinsonism? | Parkinson dis; Hereditory: Huntington chorea & Wilson; Sxs: Prog. Supranuclear Palsy (Early potural instability); Multiple System Atrophy (autonomic signs); Lewy body dis. (dementia 1 year before); Fronto temporal dementia (disinhibition, Pick bodies) |
| Progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) features (3)? | Parkinsonism with: early postural instability, ophthalmoplegia, rare tremor |
| Feature of Multiple-system atrophy (Shy Drager syndrome): OPCA striato-nigral degeneration | Parkinsonism with autonomic symptoms/signs |
| Diffuse Lewy body disease feature? | Presence of dementia for >1 year before onset of Parkinsonism |
| Fronto-temporal dementia features? | Parkinsonism with marked disinhibition; Pick bodies (intraneuronal inclusions containing abnormal Tau proteins) (not confuse with Niemann Pick disease) |
| Crigler-Najjar Sx | inherited enzyme abnormally: serious increased unconjugated bilirubin |
| Dubin-Johnson Sx | inherited enzyme abnormally: dark gray liver + increased conjugated bilirubin |
| Gilbert Sx | mild inherited enzymatic abnormally with asymptomatic increased unconjugated bilirubin |
| Rotor Sx | similar to Dubin-Johnson but without the liver discoloration |
| Plummer disease feature? | Graves without the eye symptoms |
| hereditary hemorrhagic telangiectasia (Osler Weber Syndrome) Dx criteria? | Spontaneous recurrent epistaxis; Multiple teleangiectasias on typical locations (tongue, fingers, hands); Proven visceral arteri-venous malformation (lung, liver, brain, spine); First-degree family member with HHT |
| Meig's syndrome triad and treatment? | Ovarian fibroma + Ascitis + pleural effusion (typically on the right side); Rx: unilateral salpingo-oophorectomy to correct the underlying etiology |
| Klüver-Bucy syndrome features and etiology? | Docility (exhibiting diminished fear responses or reacting with unusually low aggression); Dietary changes (eating inapproprite things); Hyperorality; hyper sexuality and visual agnosia; lack of emotional response; Amygdala lesions |
| Dwarfism and short stature? | Achondroplasia (Mcc, gene FGF-receptor3); Hurler syndrome (type I mucopolysaccharidosis; deficiency of alpha-L iduronidase); Schwachman Diamond Sx (metaphyseal dysostosis) |
Created by:
Bijan39
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