Gaucher’s Disease, Myoclonic Seizures after Splenectomy: A Case Report
GD is an inherited autosomal recessive metabolic defect due to a deficiency in the
lysosomal enzyme b-glucocerebrosidase, which leads to deposition of glucocerebrosidase in
cells of the macrophage monocyte system, predominantly in the spleen, liver, and bone marrow.
There are three clinical types, including type1 , the non-neuronopathic type; type 2,
the infantile-onset, an acute neuronopathic type and type 3, the juvenile-onset,
a chronic neuronopathic type 1.1 The third type was divided into three subgroups
on various clinical features.
In GD3a, patients exhibit as progressive myoclonic epilepsy,
with or without horizontal supranuclear gaze palsy, and mild systemic findings.
An 18 year-old boy with main complaint of convulsions in the left upper limb came
to see a neurology doctor in our hospital.
The left upper limb tic occurred several to dozens
of times a day, and each time just lasted for seconds.
The routine EEG revealed generalized nonrhythmic paroxysmal rapid spikes with occipital
predominance increased by photic stimulation and normal background activity.
The frequency of spikes increased in harmony with the frequency of flicker
and spikes frequently occurred on eye closure.
The EEG neurologist got a medical history that his convulsions
developed after the splenectomy about 3 years ago, and he had
been diagnosed as GD before.
Neuro Open J. 2015; 2(2): 56-60. doi: 10.17140/NOJ-2-113
