Gaucher’s Disease, Myoclonic Seizures after Splenectomy: A Case Report

Abstract

Gaucher’s Disease (GD) is the most prevalent lysosomal storage disorder, resulting
from the accumulation of glucocerebrosidase in the cells of macrophagemonocyte system due
to a deficiency in lysosomal glucocerebrosidase. Here we report a case of GD, a patient that
presented with myoclonic seizures after splenectomy, was just diagnosed as myoclonic seizures
at first attending a neurologist. GD is so rare that it is easily missed diagnosis or misdiagnosis in
the clinic. When neurologists engage a patient presented with myoclonic seizures, it is importance
to collect more information about his medical and family history, have him done essential
examinations, especially of children with unexplained splenomegaly.