Mongolian spots in GM1 gangliosidosis
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Typical and limited mongolian spots are benign blue or slate gray macular lesions of varying sizes, most commonly located on lumbosacral region. Mongolian spots usually fade during the first few years of life, but they occasionally persist.A 6-month-old girl born out of second degree consanguinity presented to us with multiple greyish-blue, well- to ill-defined macules and patches of varying sizes, involving chest, abdomen, back and buttocks (Fig. 1). Child had global developmental delay with developmental age of 2-3 months. Physical examination revealed coarse facial features, hepatomegaly and pansystolic murmur. Further investigations revealed normal fundus, hypertrophic cardiomyopathy and tiny persistent ductus arteriosus. a-Galactosidase activity in peripheral blood leukocytes was significantly reduced, indicative of type I (infantile) GM1 gangliosidosis...

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