![\"hurlers\"](\"http:\/\/insidesurgery.com\/wp-content\/uploads\/2009\/12\/hurlers-248x300.jpg\" "\\"hurlers\\"")
<\/p>\nHurler’s Syndrome is a disease caused by an enzyme deficiency<\/p>\n
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Pathophysiology<\/strong><\/p>\n Type I mucopolysaccharidoses caused by a deficiency in alpha-1-iduronase<\/p>\n Signs and Symptoms<\/strong><\/p>\n 1)<\/strong> infants appear normal at birth with diagnosis usually made at 6-24 months 2)<\/strong> hepatosplenomegaly 3)<\/strong> corneal clouding 4)<\/strong> skeletal deformities 5)<\/strong> coarse facial features\/prominent forehead 6)<\/strong> large tongue 7)<\/strong> stunted growth 8)<\/strong> joint stiffness 9)<\/strong> hearing loss 10)<\/strong> noisy breathing 11)<\/strong> copious nasal discharge 12)<\/strong> cardiovascular defects<\/p>\n Characteristic Test Findings<\/strong><\/p>\n Radiographic<\/em> – 1)<\/strong> large skull 2)<\/strong> thickened calvaria 3)<\/strong> shallow orbits 4)<\/strong> abnormal spacing of teeth 5)<\/strong> hypoplastic anterior vertebral bodies 6)<\/strong> enlarged diaphyses of long bones 7)<\/strong> short clavicles 8)<\/strong> oar-shaped ribs 9)<\/strong> short trapezoid-shaped phalanges Laboratory<\/em> – 10)<\/strong> increased urinary excretion of GAGs<\/p>\n Associated Conditions<\/strong><\/p>\n 1)<\/strong> acute cardiomyopathy 2)<\/strong> communicating hydrocephalus 3)<\/strong> frequent upper respiratory tract infections 4) limited speech skills attained<\/p>\n Biochemistry<\/strong><\/p>\n 1)<\/strong> alpha-1-iduronase is an enzyme needed for degradation of GAGs 2)<\/strong> because of missing enzyme accumulation of dermatan and heparan sulfate occurs<\/p>\n Inheritance\/Epidemiology<\/strong><\/p>\n 1)<\/strong> in untreated cases death by age 10 years owing to cardiovascular problems 2)<\/strong> autosomal recessive 3)<\/strong> gene for alpha-1-iduronase is on chromosome 4 (4p16.3)<\/p>\n Treatment<\/strong><\/p>\n bone marrow transplantation before onset of disease progression<\/p>\n Tips for USMLE<\/strong><\/p>\n 1)<\/strong> term for the constellation of bony abnormalities is dyostosis multiplex 2)<\/strong> unfortunate descriptive term sometimes used is gargoylism 3)<\/strong> if question mentions an increased urinary excretion of GAGs, think Hurler’s (or one of the other mucopolysaccharidosis syndromes)<\/p>\n","protected":false},"excerpt":{"rendered":" Hurler’s Syndrome is a disease caused by an enzyme deficiency Pathophysiology Type I mucopolysaccharidoses caused by a deficiency in alpha-1-iduronase Signs and Symptoms 1) infants appear normal at birth with diagnosis usually made at 6-24 months 2) hepatosplenomegaly 3) corneal clouding 4) skeletal deformities 5) coarse facial features\/prominent forehead 6) large tongue 7) stunted growth […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","footnotes":""},"categories":[5108,63],"tags":[396,397,398,393,395,394],"yoast_head":"\n