Glaucoma pigmentario y ultrabiomicroscopia topic of. The authors report two unusual cases of hunterhurlers syndrome. The manifestations of scheie syndrome are so mild that the diagnosis is often not considered until adulthood. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. It is the most mild subtype of mucopolysaccharidosis type i.
Scheie syndrome is a disease caused by a deficiency in the enzyme iduronidase, leading to the buildup of glycosaminoglycans gags in the body. Scheies line as a first sign of pigment dispersion syndrome. Radiological findings in patients with mucopolysaccharidosis i hs hurlerscheie syndrome. Mucopolysaccharidosis genetic and rare diseases information. For language access assistance, contact the ncats public information officer. Hurlerscheie syndrome genetic and rare diseases information. The diagnosis is often made between 10 and 20 years of age with onset of symptoms commonly occurring after the age of 5 years neufeld and muenzer, 2001.
Pdf mucopolysaccharidosis i mps i is a rare inherited disorder that belongs to a group of clinically progressive. Pdf mucopolysaccharidosis i mps i is a rare inherited disorder characterized by physical deformities and. It is not necessary to find the complete clinical picture, as described by others, to reach the diagnosis. Hurler syndrome genetic and rare diseases information.
The diagnosis is based on a certain number of clinical features. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for scheie syndrome. Mar 01, 2014 if you have problems viewing pdf files, download the latest version of adobe reader. Hurlerscheie syndrome represents an intermediate phenotype that is characterized by mild or no cognitive impairment but includes somatic. Hurler scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 mps1. Scheies line as a first sign of pigment dispersion. All structured data from the file and property namespaces is available under the creative commons cc0 license. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126. Mucopolissacaridose tipo i wikipedia, a enciclopedia livre. Files are available under licenses specified on their description page. Pdf mucopolysaccharidosis type i hurlerscheie syndrome.
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