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.

Fig. 1 Multiple greyish-blue macules and patches of varying sizes involving whole back and buttocks.

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. Those associated with inborn errors of metabolism are extensive and show no sign of resolution. Extensive Mongolian spots are most frequently associated with GM1 gangliosidosis, Hurler-Scheie syndrome, Niemann-Pick disease, Hunter syndrome and a-mannosidosis. The findings of generalized mongolian spots in an infant may represent underlying storage disorders thereby allowing identification of families at risk.