Extensive Mongolian spots: a clinical sign merits special attention for gm1-Gangliosidosis
Journal Title: Pediatric Review: International Journal of Pediatric Research - Year 2016, Vol 3, Issue 7
Abstract
GM1-gangliosidosis (GM1) is one of the metabolic storage diseases, of which a differential diagnosis requires an array of biochemical assays to determine the enzyme deficiency. This approach is not only time-consuming and costly but also unavailable to most hospital laboratories. However, a presumptive diagnosis of GM1 may be made on the basis of diffuse ecchymosis, ectopic Mongolian spots and coarse facial feature, if present. A more definitive diagnosis of GM1 is then made on the demonstration of deficiency of GM1 beta-galactosidase in leukocytes, plasma or cultured skin fibroblasts. We postulate that dermal pigmentation may be recognized as an early sign of GM1 gangliosidosis.
Authors and Affiliations
Rajesh kumar, Ashok Gupta, Priyanshu Mathur, Manish Sharma
Keywords
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- EP ID EP225883
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