Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome
Qi Zhang,
Liping Zou,
Qian Lu
et al.
Abstract:Background
Sandhoff disease (SD) i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy, psychomotor retardation and developmental delay. However, infantile SD with onset of infantile epilepsy spasm syndrome (IESS) is extremely rare.
Case presentation
The case presented here was a 22-month-old boy, who presented with IESS and psychomotor retardation/regression at 6 months of age. The patient showed progressive ag… Show more
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