Abstract Details

Title A Case of CADASIL with a Novel Heterozygous NOTCH3 Variant

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) P10 - Poster Session 10 (8:00 AM-9:00 AM)

Poster/Presentation
Number 5-018

Objective NA

Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the NOTCH3 gene on chromosome 19. It manifests as recurrent strokes, migraine with aura, and progressive cognitive decline, often with a positive family history.

Design/Methods We present a case of a 50-year-old female who exhibited sudden-onset generalized weakness, dizziness, and unsteadiness, which resolved within a week. Notably, her medical and family histories were unremarkable for strokes, migraines, or dementia. Initial CT brain imaging was normal, but subsequent MRI brain revealed characteristic findings, including confluent high T2 and FLAIR signal intensities in the periventricular deep white matter and anterior temporal lobes, alongside multiple lacunar infarcts in various cerebral regions. A provisional diagnosis of CADASIL was established based on these imaging findings.

Results Genetic analysis subsequently identified a heterozygous NOTCH3 mutation, c.811T>G (p.Cys271Gly), in Exon 6 that was consistent with a “likely pathogenic” classification. We were unable to test the parents for a stronger confirmation of pathogenicity.

Conclusions

This case underscores the importance of considering CADASIL in patients presenting with ischemic neurological events and characteristic MRI findings, even in the absence of a typical family history. Novel mutations may be expected when testing populations of different ethnic backgrounds.

Authors/Disclosures
Kefah A. Al-Hayk, MD (Jordan University of Science and Technology) PRESENTER	Dr. Al-Hayk has nothing to disclose.
Ayman Al-Hayk	Mr. Al-Hayk has nothing to disclose.
Duaa Bnayan (KAUH)	Duaa Bnayan has nothing to disclose.

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