Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency

Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency 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 [1]. Since biochemical and seizures, since she was 2 years. clinical findings are variable, the diagnosis is difficult in http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Neurologica Belgica Springer Journals

Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency

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Publisher
Springer International Publishing
Copyright
Copyright © 2016 by Belgian Neurological Society
Subject
Biomedicine; Neurosciences; Neurology; Neuroradiology; Medicine/Public Health, general
ISSN
0300-9009
eISSN
2240-2993
D.O.I.
10.1007/s13760-016-0736-9
Publisher site
See Article on Publisher Site

Abstract

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 [1]. Since biochemical and seizures, since she was 2 years. clinical findings are variable, the diagnosis is difficult in

Journal

Acta Neurologica BelgicaSpringer Journals

Published: Dec 28, 2016

References

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