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A Patient With Atypical Multiple Sulfatase Deficiency
Chandrabhaga Miskin1, Joseph J Melvin1, Agustin Legido1
1Section of Neurology, St Christopher's Hospital for Children, Philadelphia, Pennsylvania; Department of Pediatrics, Drexel University College of Medicine, Philadelphia, Pennsylvania.
Pediatric Neurology
|January 31, 2016
Summary
Multiple sulfatase deficiency, a rare genetic disorder, presents diverse symptoms. This case highlights its occurrence without typical features, emphasizing the need for broader diagnostic considerations in neurological regression.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Multiple sulfatase deficiency (MSD) is an autosomal recessive lysosomal storage disorder.
- It results from mutations in the C(alpha)-formylglycine-generating enzyme gene.
- MSD is characterized by the deficiency of multiple sulfatases, leading to varied clinical and biochemical presentations.
Observation:
- A 4-year-old girl presented with microcephaly, spondylolisthesis, and neurological regression.
- She lacked typical features such as ichthyosis, coarse facies, and organomegaly.
- MRI revealed confluent white matter abnormalities, sparing U-fibers.
Findings:
- Initial biochemical tests showed low arylsulfatase A, suggesting metachromatic leukodystrophy.
- Genetic testing for metachromatic leukodystrophy was negative.
- Subsequent diagnosis confirmed Multiple Sulfatase Deficiency, despite the atypical presentation.
Implications:
- This case underscores the clinical heterogeneity of Multiple Sulfatase Deficiency.
- It demonstrates that MSD can manifest without classic clinical signs.
- Broadened diagnostic awareness is crucial for identifying MSD in patients with neurological regression and atypical symptoms.
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