Hurlerscheie syndrome is the intermediate form of mucopolysaccharidosis type 1 mps1. The care toward a young child with this disorder is indispensable to achieve a childhood with life quality. Luis francisco pineda galindo at mexican institute of social security. Pdf mucopolysaccharidosis type i mps i is the prototype lysosomal. Mucopolysaccharidosis type i hurler scheie syndrome.
The same is true for most diseases of genetic origin in which one observes the transmission of only a few clinical signs. Link to the french ministry of health link to cee website. The diagnosis is based on a certain number of clinical features. Hurlerscheie syndrome genetic and rare diseases information. This is a 29yearold, moderately myopic male who presented with elevated intraocular pressure in both eyes. It is characterized by a deficiency of the enzyme aliduroni dase, resulting in. Upon dilation, a scheie stripe was noted, which is pigment deposition along the insertion of the zonular fibers to the. Mucopolysaccharidosis type i mps i is the prototype lysosomal storage disease.
Scheie syndrome genetic and rare diseases information. Files are available under licenses specified on their description page. The personal experience of a mother that faced the hurler scheie syndrome, strange disease suffered from his son already deceased, is exposed with the purpose to demonstrate that the observation of the changes occurring in a child, is vital for his development. It is not necessary to find the complete clinical picture, as described by others, to reach the diagnosis. All structured data from the file and property namespaces is available under the creative commons cc0 license.
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