Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion
Roberta Milone1, Angelo Valetto2, Veronica Bertini2
1Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa.
Insights
Benign infantile seizures (BIS) can rarely indicate 16p11.2 deletions, leading to unexpected autistic regression. Long-term follow-up is crucial for these infants.
Area of Science:
- Genetics
- Neurodevelopmental disorders
- Pediatric neurology
Background:
- Benign infantile seizures (BIS) are typically self-limiting and linked to PRRT2 gene mutations.
- 16p11.2 deletions are commonly associated with intellectual disability, autism, and language disorders, but rarely BIS.
Observation:
- A case report details a boy with a 16p11.2 deletion presenting with BIS and normal early development.
- This patient later experienced severe autistic regression, deviating from typical BIS prognosis.
Findings:
- The study highlights that BIS in infants with 16p11.2 deletions may not always have a benign neurodevelopmental outcome.
- This case suggests a potential link between 16p11.2 deletions and later-onset autistic regression following initial benign infantile seizures.
Implications:
- Array comparative genomic hybridization (CGH) screening is recommended for infants with BIS to detect 16p11.2 deletions.
- Extended clinical monitoring is advised for infants diagnosed with BIS, particularly those with chromosomal abnormalities, to identify potential long-term neurodevelopmental issues.
Abstract:
Benign infantile seizures (BIS) are usually a self-limiting condition, which may be associated with heterozygous mutations in the PRRT2 gene at chromosome 16p11.2. Here, we report a boy with a deletion in 16p11.2, presenting with BIS and typical neurodevelopment in the first year of life, unexpectedly followed by severe autistic regression. 16p11.2 deletions are typically associated with intellectual disability, autism, and language disorders, and only rarely with BIS. This clinical report shows that the neurodevelopmental prognosis in BIS patients may not always be benign, and suggests that array CGH screening should be considered for affected infants in order to rule out deletions at 16p11.2 and long-term clinical follow-up.
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