Published in:
01-09-2017 | Letter to the Editor
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency
Authors:
Faruk Incecik, Ozlem M. Herguner
Published in:
Acta Neurologica Belgica
|
Issue 3/2017
Login to get access
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. …