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Three Pediatric Siblings With CADASIL.

Marcela Torres¹, Tyler Hamby², Jo Tilley¹

¹Cook Children's Health Care System, Fort Worth, Texas.

Pediatric Neurology

|February 23, 2022

Summary

This summary is machine-generated.

Pediatric Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) presents with diverse symptoms due to NOTCH3 mutations. Early diagnosis through genetic testing is crucial for potential future therapies.

Keywords:

CADASIL Cerebrovascular disease Moyamoya syndrome NOTCH3

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Area of Science:

Genetics and Neurology
Pediatric rare diseases
Neurovascular disorders

Background:

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetic small vessel disease.
Typically adult-onset, CADASIL is increasingly recognized in pediatric populations.
NOTCH3 gene mutations are the primary cause of CADASIL.

Observation:

Three siblings with NOTCH3 mutations exhibited varied early-onset CADASIL symptoms.
Presentations included behavioral changes, cognitive decline, psychiatric issues, neurological deficits, and migraines.
One sibling presented with concurrent moyamoya syndrome and a TREX1 mutation.

Findings:

The siblings' diverse clinical manifestations align with previously reported pediatric CADASIL cases.
Early-onset symptoms spanned cognitive, behavioral, psychiatric, and neurological domains.
The youngest sibling represents the first reported NOTCH3 mutation associated with moyamoya syndrome.

Implications:

Genetic testing and neuroimaging are vital for early diagnosis of pediatric CADASIL.
Understanding genotype-phenotype correlations is key for managing CADASIL.
Further research into molecular mechanisms of CADASIL and moyamoya syndrome may lead to targeted therapies.