Genetically confirmed CADASIL in a pediatric patient.
Catalina Cleves1, Neil R Friedman, A David Rothner
1Center for Pediatric Neurology, Neurological Institute, Cleveland Clinic, 9500 Euclid Ave, Cleveland, OH 44195, USA.
Pediatrics
|November 17, 2010
Summary
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukencephalopathy (CADASIL) can manifest in childhood with migraine. Early diagnosis in pediatric patients with atypical migraines is crucial for timely intervention and family screening.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukencephalopathy (CADASIL) is a rare, adult-onset degenerative disease.
- Migraine is a common manifestation of CADASIL, sometimes presenting in childhood with atypical features like prolonged aura or aura without headache.
- Early identification of CADASIL in pediatric patients is essential due to its progressive nature and potential for stroke.
Observation:
- A 17-year-old female presented with prolonged migraine aura and aura without headache.
- Her mother was diagnosed with CADASIL, confirmed by white matter changes and a Notch3 gene mutation.
- The patient's MRI also showed white matter changes, and genetic testing revealed the same Notch3 gene mutation.
Findings:
- The patient was diagnosed with CADASIL, demonstrating the disorder's potential for early onset.
- Low-dose aspirin was initiated for stroke prevention.
- This case highlights the importance of considering CADASIL in pediatric patients with specific migraine patterns and family history.
Implications:
- This case expands the understanding of CADASIL in the pediatric population.
- It underscores the need for evaluating secondary causes of atypical migraines in children, especially with a family history of CADASIL.
- Genetic counseling and family screening are recommended for individuals diagnosed with CADASIL, including pediatric cases.
