LAUSR

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.