INTRODUCTION:
The purpose of our study is to submit the demographic, phenotypic, and time-to-diagnosis characteristics of children with GM2 gangliosidosis.
METHODS
Patients with GM2-gangliosidosis who referred to Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, from January 2004 to December 2016, were included in the study. Diagnosis was confirmed by detecting level of serum β-hexosaminidase activity and genetic mutation analysis. Demographic and clinical features are reported of 8 patients with Tay-Sachs disease (TSD) and 6 with Sandhoff disease.
RESULTS
The mean age at diagnosis was 14.5 months (range 8-36mo) and 18.2 months (range 4-48mo) in children with TSD and Sandhoff disease respectively. The first and chief complaint in 100% of the patients were neurological disorders, such as developmental delay, developmental regression or both; seizures and macrocephaly. None of the patients had evidence of organomegaly. Cranial magnetic resonance imaging was normal in 36% of the cases, 55% of the cases had bilateral thalami involvement presenting as T2 hyperintensity especially at the posterior thalami and 9% of cases had myelination delay.
DISCUSSION AND CONCLUSION:
GM2-Gangliosidosis disease should be considered in children with developmental delay and/or regression. To prevent delay of diagnosis, β-hexosaminidase activity in serum and genetic mutation analysis should be undertaken in suspected cases. Curative gene therapy may be available in the future.
Keywords: GM2 gangliosidosis,Tay-Sachs disease,Sandhoff disease,Hexoaminidase
