First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene

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.