A Patient With Atypical Multiple Sulfatase Deficiency.

Abstract

BACKGROUND:

Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder characterized by the absence of several sulfatases and resulting from mutations in the gene encoding the human C (alpha)-formylglycine-generating enzyme. There have been a variety of biochemical and clinical presentations reported in this disorder.

PATIENT DESCRIPTION:

We present a 4-year-old girl with clinical findings of microcephaly, spondylolisthesis and neurological regression without ichthyosis, coarse facies, and organomegaly.

RESULTS:

The child's magnetic resonance imaging demonstrated confluent white matter abnormalities involving the periventricular and deep cerebral white matter with the U-fibers relatively spared. Biochemical testing showing low arylsulfatase A levels were initially thought to be consistent with a diagnosis of metachromatic leukodystrophy. The diagnosis of multiple sulfatase deficiency was pursued when genetic testing for metachromatic leukodystrophy was negative.

CONCLUSION:

This child illustrates the clinical heterogeneity of multiple sulfatase deficiency and that this disorder can occur without the classic clinical features.

• Authors: Chandrabhaga Miskin, Joseph J Melvin, Agustin Legido, David A Wenger, Sue Moyer Harasink, Divya S Khurana
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 57 Pg. 98-100 (Apr 2016) ISSN: 1873-5150 [Electronic] United States
• PMID: 26825355 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2016 Elsevier Inc. All rights reserved.

Chemical References

• N-formylglycine
• Cerebroside-Sulfatase
• Glycine

Topics

• Cerebroside-Sulfatase (blood)
• Child, Preschool
• Female
• Glycine (analogs & derivatives, genetics)
• Humans
• Magnetic Resonance Imaging
• Multiple Sulfatase Deficiency Disease (blood, diagnostic imaging, physiopathology)
• Mutation (genetics)
• White Matter (diagnostic imaging)