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Case Reports
. 2013 Oct;16(4):720-2.
doi: 10.4103/0972-2327.120449.

Multiple sulfatase deficiency: A case series of four children

Faruk Incecik  1 , Mehmet N Ozbek, Serdal Gungor, Stefano Pepe, Ozlem M Herguner, Neslihan Onenli Mungan, Sabiha Gungor, Sakir Altunbasak
Affiliations
Case Reports

Multiple sulfatase deficiency: A case series of four children

Faruk Incecik et al. Ann Indian Acad Neurol. 2013 Oct.

Abstract

Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The gene sulfatase-modifying factor 1 (SUMF1), recently identified, encodes the enzyme responsible for post-translational modification of a cysteine residue, which is essential for the activity of sulfatases. We describe clinical findings and mutation analysis of four patients. The patients presented with hypotonia, developmental delay, coarse face, ichthyosis, and hepatosplenomegaly. The diagnosis was made through clinical findings, enzymatic assays, and mutation analysis. We were detected to be homozygous for a novel missense mutation c. 739G > C causing a p.G247R amino acid substitution in the SUMF1 protein.

Keywords: Child; multiple sulfatase deficiency; sulfatase-modifying factor 1 gene.

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Conflict of interest statement

Conflict of Interest: Nil

Figures

Figure 1
Figure 1
An 18-month-old girl with a multiple sulfatase deficiency with dysmorphic features
Figure 2
Figure 2
Cerebral magnetic resonance imaging showed hyperintense lesions in the periventricular white matter
See this image and copyright information in PMC

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