Journal article
A Patient With Atypical Multiple Sulfatase Deficiency
Pediatric neurology, v 57
01 Apr 2016
PMID: 26825355
Featured in Collection : UN Sustainable Development Goals @ Drexel
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. (C) 2016 Elsevier Inc. All rights reserved.
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Details
- Title
- A Patient With Atypical Multiple Sulfatase Deficiency
- Creators
- Chandrabhaga Miskin - Drexel UniversityJoseph J. Melvin - Drexel UniversityAgustin Legido - Drexel UniversityDavid A. Wenger - Thomas Jefferson UniversitySue Moyer Harasink - Drexel UniversityDivya S. Khurana - Drexel University
- Publication Details
- Pediatric neurology, v 57
- Publisher
- Elsevier
- Number of pages
- 3
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000373522800020
- Scopus ID
- 2-s2.0-84961193244
- Other Identifier
- 991019168223004721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Clinical Neurology
- Pediatrics