Erschienen in:
28.12.2016 | Letter to the Editor
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency
verfasst von:
Faruk Incecik, Ozlem M. Herguner
Erschienen in:
Acta Neurologica Belgica
|
Ausgabe 3/2017
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Excerpt
Multiple sulfatase deficiency (MSD) is a rare autosomal recessive inborn error of metabolism that is caused by mutations in the sulfatase modifying factor 1 gene. This gene encodes the formylglycine-generating enzyme (FGE). The deficiency of this enzyme results in accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids, and steroid sulfates in tissues. Estimated prevalence of MSD is <1:1 million births [
1]. Since biochemical and clinical findings are variable, the diagnosis is difficult in most of the cases. Herein, we report a patient who has hydrocephalus which is a rare clinical symptom of MSD. …