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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