Hamlat Abderrahmane, Saikali Stephan, Lakehal Mohamed, Pommereuil Michèle, Morandi Xavier
Service de Neurochirurgie, CHRU Pontchaillou, Rue Henri Le Guilloux, 35000 Rennes Cedex 2, France.
Eur Spine J. 2004 May;13(3):249-52. doi: 10.1007/s00586-003-0657-1. Epub 2003 Dec 20.
The authors report a rare case of type-1 Gaucher disease with neurological and haematological involvement. The first onset was epilepsy, the diagnosis of GD1 was then confirmed and the patient experienced parkinsonism. The biological analysis revealed monoclonal gammapathy and factor-II mutation. The patient's condition worsened due to cauda equina syndrome. Magnetic resonance imaging and surgery revealed an intra-thecal sacral cyst which, to our knowledge, has not been reported previously; therefore, when confronted with the fractures commonly observed in GD1, other unusual causes of spinal cord and root compression should not be overlooked.
作者报告了1例罕见的伴有神经和血液系统受累的1型戈谢病。首发症状为癫痫，随后确诊为GD1，患者出现帕金森综合征。生物学分析显示单克隆丙种球蛋白病和凝血因子II突变。患者因马尾综合征病情恶化。磁共振成像和手术发现了一个鞘内骶管囊肿，据我们所知，此前尚未有相关报道；因此，当面对GD1中常见的骨折时，不应忽视脊髓和神经根受压的其他不寻常原因。
