SUNİTHA VAİDYANATHAN, RENU P KURUP, AMİTH KUMAR IV, SHEELA NAMPOOTHİRİ
Journal of Pediatric Neurology - 2009;7(4):411-414
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.
