[Mental retardation revealing mucopolysaccharidosis type I in a child treated for cystic fibrosis: a case report].
Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease due to an α-L-iduronidase deficiency, which leads to an accumulation of glycosaminoglycans in the lysosomes of most cells, resulting in tissue and organ dysfunction. MPS I is inherited in an autosomal-recessive manner. This disorder has a chronic, progressive course and is characterized by mental retardation, dysmorphy, organomegaly, multisystem involvement, and multiple dysostosis. Early disease recognition is important for a prompt start of specific treatment, which improves many aspects of MPS I, and for the patient's overall management.
Service de pédiatrie, hôpital du Hasenrain, Mulhouse, France.
S
S
Scheidecker
M-V
MV
Vodoff-Oehler
L
L
Issa-Brunet
M-F
MF
Peralta
D002675:Child, Preschool; D003241:Consanguinity; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007068:Iduronidase / Q000627:therapeutic use; D008607:Intellectual Disability / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011296:Prenatal Diagnosis; D035781:Siblings; D016896:Treatment Outcome
D007068:Iduronidase