Matched unrelated bone marrow transplantation without splenectomy for a child with Gaucher disease caused by homozygosity of the L444P mutation, who also suffered from schizencephaly

作者：Chen Rong Long^*; Hou Jia Woei; Chang Pau Yuan; Tsai Fuu Jen; Wang Pen Jung

来源：Journal of Pediatric Hematology/Oncology, 2007, 29(1): 57-59.

DOI：10.1097/MPH.0b013e3180308793

• schizencephaly
• Gaucher disease
• heterotopia
• L444P mutation
• bone marrow transplantation

Splenectomy followed by bone marrow transplantation (BMT) has been applied successfully in the treatment of neuronopathic Gaucher disease (GD). GD in combination with schizencephaly has not previously been reported. We describe a girl who presented with herniparesis and oculomotor apraxia since infancy, and thereafter developed progressive anemia, thrombocytopenia, hepatosplenomegaly, psychomotor retardation, and skeletal abnormalities. GD caused by homozygosity of the L444P mutation was diagnosed, in combination with schizencephaly. The child received enzyme replacement therapy for 3 years, followed by successful matched unrelated BMT without splenectomy. The strategy of BMT without splenectomy after a period of enzyme replacement may be feasible in neuronopathic GD.

• 出版日期2007-1
• 单位中国医科大学