Ostergaard J R, Christensen T
Department of Pediatrics A, University Hospital of Aarhus, Denmark.
Neuropediatrics. 1996 Dec;27(6):326-30. doi: 10.1055/s-2007-973803.
Trichothiodystrophy (brittle sulfur-deficient hair) is a marker for several autosomal recessive neurocutaneous syndromes with neurological manifestations and mental retardation. In Tay syndrome, the trichothiodystrophy is accompanied by congenital ichthyosis, short stature, delayed physical and mental development and pyramidal tract signs with increase in muscular tone and brisk tendon reflexes. The pathogenesis of these neurological manifestations is not fully elucidated. We present a case of Tay syndrome in which a cranial MRI revealed an almost total lack of myelin within the cerebral hemispheres and a patchy hypomyelination of the cerebellum. In accordance, a strongly prolonged visual evoked response pointed to a dysfunction of the white matter in Tay syndrome.
毛发硫营养不良（脆性缺硫性毛发）是几种伴有神经学表现和智力发育迟缓的常染色体隐性神经皮肤综合征的标志物。在Tay综合征中，毛发硫营养不良伴有先天性鱼鳞病、身材矮小、身心发育迟缓以及锥体束征，表现为肌张力增加和腱反射亢进。这些神经学表现的发病机制尚未完全阐明。我们报告一例Tay综合征病例，其头颅磁共振成像显示大脑半球几乎完全缺乏髓鞘，小脑存在斑片状髓鞘发育不全。相应地，视觉诱发电位显著延长表明Tay综合征存在白质功能障碍。
