Affiliations: Department of Pediatric Genetics, Amrita Institute of
Medical Sciences & Research Center, Aims Ponekkara, Cochin, Kerala,
India | Department of Pediatric Cardiology, Malabar Institute
of Medical Sciences, Calicut, Kerala, India | Fetal Care Research Foundation, Dr. Natesan Road,
Mylapore, Chennai, India
Note: [] Correspondence: Dr. Sheela Nampoothiri, Department of Pediatric
Genetics, Amrita Institute of Medical Sciences & Research Center, Aims
Ponekkara, Cochin 682041, Kerala, India. Tel.: +91 484 2801234; Fax: +91 484
2802020; E-mail: [email protected]
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
