Acta Neurol Belg (2017) 117:779–780 DOI 10.1007/s13760-016-0736-9 LETTER TO THE EDITOR Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deﬁciency 1 1 Faruk Incecik Ozlem M. Herguner Received: 21 September 2016 / Accepted: 8 December 2016 / Published online: 28 December 2016 Belgian Neurological Society 2016 Introduction atrophy in the MRI that was performed when she was 3 years. Multiple sulfatase deﬁciency (MSD) is a rare autosomal She had generalized axial hypotonia with decreased tone recessive inborn error of metabolism that is caused by in all extremities, and her deep tendon reﬂexes were absent. mutations in the sulfatase modifying factor 1 gene. This Babinski sign was bilaterally negative. She was mentally gene encodes the formylglycine-generating enzyme (FGE). retarded and unable to sit and walk. She also had coarse The deﬁciency of this enzyme results in accumulation of face, ichtyosis, hypertrichosis, and hepatosplenomegaly. sulfatides, sulphated glycosaminoglycans, sphingolipids, She had seizures which were refractory to antiepileptic and steroid sulfates in tissues. Estimated prevalence of drugs and mainly consisted of tonic and complex partial MSD is \1:1 million births . Since biochemical and seizures, since she was 2 years. clinical ﬁndings are variable, the diagnosis is difﬁcult in
Acta Neurologica Belgica – Springer Journals
Published: Dec 28, 2016
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