Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.

ABSTRACT:

Objective

Heterozygous NOTCH3 variants are known to cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), with patients typically presenting in adulthood. We describe three patients presenting at an early age with a vascular leukoencephalopathy. Genome sequencing revealed bi-allelic variants in the NOTCH3 gene.

Methods

Clinical records and available MRI and CT scans of three patients from two unrelated families were retrospectively reviewed.

Results

The patients presented at 9 to 14 months of age with developmental delay, seizures, or both. The disease course was characterized by cognitive impairment and variably recurrent strokes, migraine attacks, and seizures. MRI findings pointed at a small vessel

SUBMITTER: Stellingwerff MD 

PROVIDER: S-EPMC9270846 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature