GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay–Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB.
In this study, all cases with the diagnosis of the disease between 2009 and 2014 referred to the pediatric neurology department of the Mofid hospital were included. The disease was then confirmed by neurometabolic profile and hexosaminidases levels A, B and AB. Meanwhile, age, sex, history of underlying diseases, developmental status, and clinical and imaging findings were also recorded.
83% of our patients were the offspring of consanguineous marriages. All of them had a developmental disorder as a chief complaint. They were also followed for approximately 5 years and the follow-up showed that all the cases were bedridden or had expired due to refractory seizures, pneumonia aspiration, or swallowing disorders.
Neuro-imaging findings included bilateral thalamic involvement, brain atrophy, and hypo myelination in near half of our patients (48%).
According to the results of this study, we suggest that cherry-red spots, hyperacusis, refractory seizures, and relative parents in children with developmental delay and/or regression should be considered for assessment of GM2-Gangliosidosis disease.
