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The presenting features of mucopolysaccharidosis type IH (Hurler syndrome)
Author(s) -
Cleary MA,
Wraith JE
Publication year - 1995
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1995.tb13640.x
Subject(s) - medicine , hurler syndrome , mucopolysaccharidosis , mucopolysaccharidosis type i , mucopolysaccharidosis i , mucopolysaccharidosis type ii , pediatrics , bone marrow transplantation , hunter syndrome , transplantation , surgery , enzyme replacement therapy , disease
The presenting features of 39 patients with mucopolysaccharidosis (MPS) type IH are described. The mean age at diagnosis was approximately 9 months and it is difficult to see how this can be reduced without consideration of newborn screening. An earlier age at diagnosis is likely to lead to better results following therapy such as bone marrow transplantation. Clinical features which should arouse suspicion of MPS IH include frequent ENT surgery and recurrent herniae. Clinical vigilance is needed for early diagnosis