Yoon Hye-Kyung, Sargent Michael A, Prendiville Julie S, Poskitt Kenneth J
Department of Radiology, British Columbia Children's Hospital, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
Pediatr Radiol. 2005 Oct;35(10):1019-23. doi: 10.1007/s00247-005-1495-6. Epub 2005 May 24.
Trichothiodystrophy is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, nail dysplasia, ichthyosis, mental retardation, and gonadal failure. We describe a female patient whose cranial MRI revealed almost total lack of myelination in the supratentorial white matter, which is similar to the previously described cases. In addition, there was progressive cerebellar and cerebral atrophy, which has not been well documented in association with trichothiodystrophy.
毛发硫营养不良是一种罕见的常染色体隐性遗传神经外胚层疾病，其特征为头发脆、指甲发育异常、鱼鳞病、智力发育迟缓及性腺功能衰竭。我们描述了一名女性患者，其头颅磁共振成像显示幕上白质几乎完全缺乏髓鞘形成，这与先前描述的病例相似。此外，还存在进行性小脑和大脑萎缩，而毛发硫营养不良与这种情况相关的报道并不充分。
