Department of Pediatric Neurology, Mersin University School of Medicine, Mersin, Turkey.
Eur J Paediatr Neurol. 2011 Nov;15(6):551-3. doi: 10.1016/j.ejpn.2011.04.012. Epub 2011 May 14.
Biotinidase deficiency is a disorder of biotin metabolism that manifests with cutaneous, ophthalmological and neurologyical symptoms in childhood. Spinal cord involvement has rarely been reported and all of the reported cases are spastic paraparesis. A 3 year-old girl with biotinidase deficiency was admitted to our clinic with hyperventilation, hair loss and spastic tetraparesis. To our knowledge, our case is the first reported tetraparesis associated with biotinidase deficiency. She was treated with oral biotin and benefited significantly from this therapy.
生物素酶缺乏症是一种生物素代谢紊乱的疾病，在儿童期表现为皮肤、眼科和神经系统症状。脊髓受累很少见，所有报告的病例都是痉挛性截瘫。一名 3 岁女孩因生物素酶缺乏症导致呼吸急促、脱发和痉挛性四肢瘫痪而被收入我院。据我们所知，我们的病例是首例与生物素酶缺乏症相关的四肢瘫痪病例。她接受了口服生物素治疗，并且从这种治疗中显著获益。
