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Acta Neurologica Belgica
Published in: Acta Neurologica Belgica 3/2017

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

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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. …
Literature
1.
Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A (2003) The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell 113:445–456CrossRefPubMed
2.
Hopwood JJ, Ballabio A (2001) Multiple sulfatase deficiency and the nature of the sulfatase family. In: Scriver CR, Ballabio A, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3725–3732
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Busche A, Hennermann JB, Bürger F, Proquitté H, Dierks T, von Arnim-Baas A, Horn D (2009) Neonatal manifestation of multiple sulfatase deficiency. Eur J Pediatr 168:969–973CrossRefPubMed
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al-Moutaery KR, Choudhury AR, Hassanen MO (1994) Cervical cord compression and severe hydrocephalus in a child with Saudi variant of multiple sulfatase deficiency. Report of case. Acta Neurochir (Wien) 131:160–163CrossRef
Metadata
Title
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency
Authors
Faruk Incecik
Ozlem M. Herguner
Publication date
01-09-2017
Publisher
Springer International Publishing
Published in
Acta Neurologica Belgica / Issue 3/2017
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI
https://doi.org/10.1007/s13760-016-0736-9

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