Pediatric Gaucher Disease Type 3 Presenting with Oculomotor Apraxia: A Case Report
Margherita Di Costanzo,
Nicoletta de Paulis,
Giuseppe Cannalire
et al.
Abstract:We report on a 4-year-old boy affected by Gaucher disease (GD) type 3, who presented with splenomegaly and a history of oculomotor apraxia. GD is a rare lysosomal storage disorder caused by glucocerebrosidase deficiency with multi-organ involvement. Besides common clinical features such as hepatosplenomegaly and skeletal involvement, less frequent neurological symptoms, such as oculomotor apraxia, are indicative of neuronopathic forms of the disease, namely GD type 3, to be confirmed both by enzyme activity an… Show more
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