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

Loading next page...
 
/lp/springer_journal/hydrocephalus-as-a-rare-clinical-symptom-in-a-child-with-multiple-sDgT6e9ogn
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

References

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 12 million articles from more than
10,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Unlimited reading

Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.

Stay up to date

Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.

Organize your research

It’s easy to organize your research with our built-in tools.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

Monthly Plan

  • Read unlimited articles
  • Personalized recommendations
  • No expiration
  • Print 20 pages per month
  • 20% off on PDF purchases
  • Organize your research
  • Get updates on your journals and topic searches

$49/month

Start Free Trial

14-day Free Trial

Best Deal — 39% off

Annual Plan

  • All the features of the Professional Plan, but for 39% off!
  • Billed annually
  • No expiration
  • For the normal price of 10 articles elsewhere, you get one full year of unlimited access to articles.

$588

$360/year

billed annually
Start Free Trial

14-day Free Trial