儿童期神经轴索性营养不良。两名患有哈勒沃登-施帕茨病的堂兄弟病例报告及一例塞特尔伯格病病例报告。

Neuroaxonal dystrophy in childhood. Report of two second cousins with Hallerworden-Spatz disease, and a case of Seitelberger's disease.

作者信息

Malmström-Groth A G, Kristensson K

出版信息

Acta Paediatr Scand. 1982 Nov;71(6):1045-9. doi: 10.1111/j.1651-2227.1982.tb09574.x.

DOI:10.1111/j.1651-2227.1982.tb09574.x

Abstract

Three late infantile cases of neuroaxonal dystrophy are presented, two of them second cousins with Hallerworden-Spatz disease and one sporadic case with Seitelberger's disease. At about 1 1/2 years of age the patients with Hallerworden-Spatz disease developed clinical signs including progressive extrapyramidal motor disorder and mental retardation. They died at 8 and 11 years. Iron deposits and axonal dystrophy were found in the pallidum. The changes are compared to those in a case of infantile neuroaxonal dystrophy (Seitelberger's disease), the first to be reported in Scandinavia.

摘要

本文报告了3例晚期婴儿型神经轴索性营养不良病例，其中2例为患有哈勒沃登-施帕茨病的二级亲属，1例为患有塞特尔贝格病的散发病例。患有哈勒沃登-施帕茨病的患者在约1.5岁时出现临床症状，包括进行性锥体外系运动障碍和智力发育迟缓。他们分别在8岁和11岁时死亡。在苍白球发现了铁沉积和轴索性营养不良。将这些变化与一例婴儿型神经轴索性营养不良（塞特尔贝格病）的病例进行了比较，该病例是斯堪的纳维亚地区首次报道的。