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Journal of Pediatric Neurology 2009; 07(04): 411-414
DOI: 10.3233/JPN-2009-0328
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Extensive Mongolian spots as a clue in GM1 gangliosidosis: Report of two cases

Sunitha Vaidyanathan
a   Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara, Cochin, Kerala, India
,
Renu P. Kurup
b   Department of Pediatric Cardiology, Malabar Institute of Medical Sciences, Calicut, Kerala, India
,
Amith Kumar IV
c   Fetal Care Research Foundation, Dr. Natesan Road, Mylapore, Chennai, India
,
Sheela Nampoothiri
a   Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara, Cochin, Kerala, India
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Publication History

14 June 2008

04 February 2009

Publication Date:
30 July 2015 (online)

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Abstract

Two unrelated infants who presented with global developmental delay, coarse facial features, and cardiac valve involvement were evaluated. Presence of extensive Mongolian spots along with hepatosplenomegaly and cardiac valvular involvement helped to narrow down the diagnosis as beta-galactosidase deficiency. The parents could be offered prenatal diagnosis in future pregnancy.

Keywords

GM1 gangliosidosis - Mongolian spots - beta-galactosidase - prenatal study