Pediatric Gaucher Disease Type 3 Presenting with Oculomotor Apraxia: A Case Report

• Main Authors: Margherita Di Costanzo (Author), Nicoletta de Paulis (Author), Giuseppe Cannalire (Author), Nicola Morelli (Author), Giacomo Biasucci (Author)
• פורמט: ספר
• יצא לאור: MDPI AG, 2024-08-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

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 hepatospl...