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具有常染色体隐性遗传的进行性特发性纹状体-苍白球-齿状核钙化症(法尔病)。三例同胞病例报告。

Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance. Report of three siblings.

作者信息

Smits M G, Gabreëls F J, Thijssen H O, 't Lam R L, Notermans S L, ter Haar B G, Prick J J

出版信息

Eur Neurol. 1983;22(1):58-64. doi: 10.1159/000115537.

Abstract

3 siblings with symmetrical calcifications in the strio-pallido-dentate system are described. Parathyroid function was normal and there were no signs of central or peripheral myelinopathy. This is the 9th family reported with autosomal recessive idiopathic strio-pallido-dentate calcinosis and the first to be investigated by computerized tomography (CT). CT scans appeared to be superior to plain skull radiograms to assess the localization and the extent of the calcifications in vivo. The calcifications were the least extensive in the youngest and the most extensive in the eldest. It is suggested that the calcifying process is a progressive disorder. It seems to start in the dentate nuclei and pons, and subsequently extends to the basal ganglia and to the radiation of the corpus callosum.

摘要

本文描述了3例在纹状体 - 苍白球 - 齿状核系统出现对称性钙化的兄弟姐妹。甲状旁腺功能正常,无中枢或周围性髓鞘病的迹象。这是第9个报道的常染色体隐性遗传性特发性纹状体 - 苍白球 - 齿状核钙化症家族,也是首个接受计算机断层扫描(CT)检查的家族。CT扫描在评估体内钙化的定位和范围方面似乎优于普通颅骨X线片。钙化在最年幼者中范围最小,在最年长者中范围最大。提示钙化过程是一种进行性疾病。它似乎始于齿状核和脑桥,随后扩展至基底神经节和胼胝体辐射区。

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