Nasu-Hakola Disease With Stroke-like Attack: A Case Report

Area of Science:

• Neuroscience
• Genetics
• Neurology

Background:

• Nasu-Hakola disease is a rare autosomal recessive disorder characterized by presenile dementia and bone cysts.
• It is caused by mutations in the triggering receptor expressed on myeloid cells 2 (TREM2) gene or the DNAX-activating protein 1-like 2 (DAP12) gene.
• Homozygous TREM2 mutations are associated with a severe phenotype, including early-onset dementia and seizures.

Observation:

• A 36-year-old woman presented with seizures and a 5-year history of progressive cognitive and behavioral changes.
• Brain MRI revealed an ischemic lesion, thinning of the corpus callosum, and frontotemporal cortical atrophy.
• The patient had an affected sibling, suggesting a genetic basis.

Findings:

• Whole exome sequencing identified a homozygous mutation (c.A257T; p.D86V) in the TREM2 gene.
• This mutation expands the known clinical spectrum of Nasu-Hakola disease.
• The findings suggest a potential role for the TREM2 pathway in maintaining vessel wall integrity.

Implications:

• This case broadens the understanding of TREM2-associated neurodegenerative disorders.
• It underscores the importance of genetic testing in patients with atypical dementia presentations.
• Further research into the TREM2 pathway's role in cerebrovascular health is warranted.