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Ring 14 chromosome presenting as early-onset isolated partial epilepsy
Dorothée Ville1, Julitta DE Bellescize, Marie Ange Nguyen
1Department of Pediatric Neurology, Hôpital Femme Mère Enfant, Lyon, France. dorothee.ville@chu-lyon.fr
Developmental Medicine and Child Neurology
|May 7, 2009
Summary
Ring 14 chromosome syndrome can present as early-onset partial epilepsy in infants. This epilepsy may not progress to severe forms, differing from classic presentations.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Ring 14 chromosome syndrome is a rare genetic disorder.
- Epilepsy is a common neurological manifestation in this syndrome.
- Early diagnosis and understanding of epilepsy phenotypes are crucial.
Observation:
- Four infants with ring 14 chromosome presented with early-onset partial epilepsy, starting between 3-6 months.
- Diagnosis was primarily based on focal seizures, with less prominent initial psychomotor or morphological issues.
- No epileptic spasms or progression to epileptic encephalopathy were observed despite frequent seizures.
Findings:
- Infants showed partial epilepsy, mild psychomotor delay, and some dysmorphic traits at follow-up.
- Literature review suggests ring 14 chromosome syndrome can manifest as isolated focal epilepsy.
- This presentation expands the known clinical spectrum of ring 14 chromosome syndrome.
Implications:
- Early-onset focal epilepsy in infants may indicate ring 14 chromosome syndrome.
- The distinct epilepsy phenotype broadens the understanding of ring 14 chromosome syndrome.
- Further research is needed for phenotype-genotype correlations and epilepsy mechanisms.
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