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12 Cards in this Set
- Front
- Back
Clinical Muchopolysaccaridosis
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Inheritance
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Autosomal recessive except X linked recessive in Hunter's syndrome
Gene loci Hurler, Scheie syndrome 4pl 6.3 Hunter's syndrome Xq27.3 q28 Sanfilippo syndrome several loci reported Morquio syndrome W 16q24.3 Maroteaux Lamy syndrome 5q11 q 13 |
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Prenatal
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CVS/amniocentesis enzyme assay from cultured chorionic villus tissue/amniotic fluid cells DNA analysis
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Incidence
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Hurler's approximately 1:100,000; M=F
Scheie's rare; M=F Hunter's approximately 1:100,000; all males Sanfilippo's approximately 1:25,000; M=F Morquio's <1:100,000; M=F Maroteaux Lamy's rare; M=F |
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Age at Presentation
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Hurler's, Hunter's, Sanfilippo's, Morquio's, Maroteaux Lamy normal at birth, within first2 years of life
Scheie's birth (corneal clouding, herniae); childhood (stiff joints) |
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Pathogenesis
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Lysosomal enzymes responsible for breakdown of mucopolysaccharides are deficient; increased mucopolysaccharicles throughout system
Syndrome: Enzyme; Mucopolysaccharides Hurler's, Scheie: (X L iduronidase; dermatan, heparan sulfate Hunter's: iduronate sulfatase; dermatan, heparan sulfate Sanfilippo's: (A) heparan N sulfatase, (B) (x N acetylglucosaminiclase, (C) acetyl¬CoA: a glucosaminide acetyltransferase, (D) N acetylglucosamine 6 sulfatase; heparan sulfate Morquio's: (A) hexosamine 6 sulfatase, (B) beta galactosidase; keratan sulfate |
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Clinical
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Skin
Firm, ivory colored papules symmetrically distributed between angles of the scapulae and posterior axillary line (Hunter) Thick, coarse (all) Hair Generalized hirsutism (all) Craniofacial Coarse facies with thick nose and depressed nasal bridge, thick lips and tongue, short neck, macrocephaly (Hurler's, Hunter's, Sanfilippo's mild, Maroteaux-Lamy's) Central Nervous System Mental retardation (Hurler's, Hunter's severe form, Sanfilippo's), progressive neurologic impairment (Hunter's severe form, Sanfilippo's), deafness (Hurler's, Hunter's), hyperactivity/behavioral problems (Sanfilippo's), hydrocephalus (Hurler's, Hunter's severe form) |
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Clinical
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Musculoskeletal
Short stature (all except Scheie's), broad hands with short fingers (all), "dysostosis multiplex" stiff joints, contractures, kyphoscoliosis, claw deformity of hand (Hurler's, Scheie's, Hunter's, Maroteaux Lamy's), oclontoid hypoplasia (Morquio's, Hurler's), joint laxity (Morquio's), lumbar lordosis (Morquio's), umbilical/inguinal hernia (Hurler's, Scheie's, Hunter's, Maroteaux Lamy's) Eyes Corneal clouding (all except Hunter's, Sanfilippo's) Cardiovascular Deposition of mucopolysaccharicles with valvular and coronary heart disease (Hurler's, Scheie's, Hunter's, Morquio's, Maroteaux Lamy's), aortic valve disease (Scheie's) Gastrointestinal Hepatosplenornegaly (Hurler's, Hunter's, Maroteaux Lamy's) LungBronchopneumonia often end stage, sleep apnea with narrow upper airway (Hurler's, Scheie's, Hunter's, Maroteaux Lamy's) |
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D/dx
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Mucolipidoses
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Lab
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Mucopolysaccharicle detection in urine
Enzyme assay: fibroblasts, leukocytes, serum Spine films Echocardiogram |
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Management
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Supportive care with physical therapy, special education, hearing aids
Surgical correction of cornea, cardiac valve, cervical spine, joint contractures, hernia may help Bone marrow transplantation some success |
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Prognosis
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Progressive worsening with no cure; death usually within second decade because of respiratory/cardiac clecompensation; milder forms may survive into adulthood
Scheie's normal life span |
