Leukodystrophies are rare inherited myelin disorders affecting the white matter of the central nervous system. In several leukodystrophies the underlying disease mechanism is well known but there is still a large group with undiscovered etiology. We report a case of sudanophilic leukodystrophy diagnosed by a post mortem neuropathological examination, in which a whole exome sequencing (WES) revealed compound heterozygous variants in PIGT. PIGT encodes phosphatidylinositol-glycan biosynthesis class T, which is a subunit of the glycosylphosphatidylinositol (GPI) transamidase complex. Inherited congenital deficiencies in GPI anchor biosynthesis and attachment comprise a subset of congenital disorders of glycosylation (CDGs). This is to the best of our knowledge the first time that neuropathological findings revealed in a post mortem examination are linked to a CDG and certainly to a PIGT-CDG. This article is protected by copyright. All rights reserved.

中文翻译：

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脑白质营养不良患者的神经病理学发现和 PIGT 基因复合杂合变异体的首次报告

脑白质营养不良是罕见的遗传性髓鞘疾病，影响中枢神经系统的白质。在几种脑白质营养不良中，潜在的疾病机制是众所周知的，但仍有一大群尚未发现病因。我们报告了一例通过尸检神经病理学检查诊断出的嗜苏丹性脑白质营养不良病例，其中全外显子组测序 (WES) 揭示了 PIGT 中的复合杂合变异。PIGT 编码磷脂酰肌醇-聚糖生物合成 T 类，它是糖基磷脂酰肌醇 (GPI) 转酰胺酶复合物的一个亚基。GPI 锚生物合成和附着的先天性先天性缺陷包括先天性糖基化障碍 (CDG) 的一个子集。据我们所知，这是第一次在尸检中发现的神经病理学发现与 CDG 相关，当然也与 PIGT-CDG 相关。本文受版权保护。版权所有。