Saito Yoshiaki, Toyoshima Mitsuo, Oka Akira, Zhuo Luan, Moriwaki Shin-ichi, Yamamoto Osamu, Kanzaki Susumu, Hanaki Kei-ichi, Ninomiya Haruaki, Nanba Eiji, Kondo Akiko, Maegaki Yoshihiro, Ohno Kousaku
Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago 683-8504, Japan.
Brain Dev. 2008 Mar;30(3):221-5. doi: 10.1016/j.braindev.2007.08.004. Epub 2007 Sep 17.
We report on an 8-year-old boy with mental retardation and spastic tetraparesis associated with atrophic skin on the face and extremities, telangiectasia, and severe dental caries. Basal ganglia calcification and multiple lesions in the subcortical white matter have been present since infancy. The patient has complications of liver dysfunction, multiple endocrine defects, and elevation of blood/cerebrospinal fluid lactate. Extensive laboratory examinations, including skin and muscle biopsies, and UV- and mitomycin C-sensitivity tests on fibroblasts, provided no evidence of a specific disease entity. No deterioration was noted, and supplementation of riboflavin and other vitamins had no apparent effect on the neurodevelopmental status of this patient. This patient may represent a novel disease entity, with unclear pathogenesis.
我们报告了一名8岁男孩，患有智力发育迟缓、痉挛性四肢瘫痪，伴有面部和四肢皮肤萎缩、毛细血管扩张以及严重龋齿。自婴儿期起就存在基底节钙化和皮质下白质多发病变。该患者有肝功能障碍、多种内分泌缺陷以及血液/脑脊液乳酸升高的并发症。广泛的实验室检查，包括皮肤和肌肉活检，以及对成纤维细胞的紫外线和丝裂霉素C敏感性测试，均未发现特定疾病实体的证据。未观察到病情恶化，补充核黄素和其他维生素对该患者的神经发育状况也无明显影响。该患者可能代表一种新型疾病实体，发病机制尚不清楚。
