Neuroaxonal leukodystrophy associated with congenital cutis laxa: report of an autopsy case
Neuroaxonal leukodystrophy associated with congenital cutis laxa: report of an autopsy case
复制标题
与先天性皮肤松弛相关的神经轴索脑白质营养不良：尸检病例报告
作者：
M. Shintaku;Y. Uemura;I. Fujii;Y. Ohtani;T. Miike;M. Tokunaga;A. Tsubura
摘要1例男性先天性皮肤松弛症患者，出生时因弹性纤维变性导致皮肤松弛，3岁时出现智力和运动发育停止。精神运动能力的逐渐下降导致患者在4岁零9个月时死亡。尸检显示广泛的白质变性，其特征是形成大量的神经轴突球体和轴突和髓鞘的弥漫性损失。半瓣膜中心和小脑白质受到的影响最为严重。球体的超微结构符合营养不良型轴突肿胀。大脑皮层、小脑皮层及部分脑干核神经元均有中度至重度丢失，灰质内神经轴突球体较少。苍白球和黑质保存完好。神经轴突性脑白质营养不良症是原发性神经轴突性脑白质营养不良症中最罕见的一种，主要表现为球体形成，且很少有尸检病例报道。在报告的病例中，两名日本兄弟姐妹有与本病例相似的先天性皮肤病变。神经轴突性脑白质营养不良和先天性皮肤松弛的独特关联可能形成这种疾病类别的独特变体。
Abstract A male patient, who was born with congenital cutis laxa characterized by cutaneous laxity due to the degeneration of elastic fibers, presented with an arrest of mental and motor development at the age of 3 years. The progressive decline of the psychomotor abilities led to the patient’s death at the age of 4 years and 9 months. An autopsy revealed extensive white matter degeneration, characterized by the formation of numerous neuroaxonal spheroids and a diffuse loss of axons and myelin sheaths. The centrum semiovale and the cerebellar white matter were the most severely affected. The ultrastructure of the spheroids was consistent with a dystrophic type of axonal swelling. Neurons of the cerebral cortex, cerebellar cortex, and some brain stem nuclei were lost in moderate to severe degrees, and there were relatively few neuroaxonal spheroids in the gray matter. The pallidum and substantia nigra were well preserved. Neuroaxonal leukodystrophy, in which the spheroid formation predominantly affects the white matter, is the rarest variant of primary neuroaxonal dystrophies, and there are very few reports of autopsied cases. Among the reported cases, two Japanese siblings had congenital skin lesions similar to those of our case. The unique association of neuroaxonal leukodystrophy and congenital cutis laxa may form a distinct variant in this disease category.