Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: A new syndrome?
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- 作者：Yoshiaki Saito ; Mitsuo Toyoshima ; Akira Oka ; Luan Zhuo ; Shin-ichi Moriwaki ; Osamu Yamamoto ; Susumu Kanzaki ; Kei-ichi Hanaki ; Haruaki Ninomiya ; Eiji Nanba ; Akiko Kondo ; Yoshihiro Maegaki ; Kousaku Ohno
- 关键词：Neurocutaneous syndrome ; DNA repair ; Riboflavin ; Cockayne syndrome ; Rothmund– ; Thomson syndrome
- 刊名：Brain and Development
- 出版年：2008
- 出版时间：March 2008
- 年：2008
- 卷：30
- 期：3
- 页码：221-225
- 全文大小：347 K
文摘
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.