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Ring chromosome 14 with localization-related epilepsy: three cases.
Masafumi Morimoto1, Tomohiro Usuku, Masayuki Tanaka
1Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. morimoto@koto.kpu-m.ac.jp
Epilepsia
|August 16, 2003
Summary
Ring chromosome 14 and monosomy 14 mosaicism in three boys caused drug-resistant epilepsy. This genetic condition presented with seizures, developmental delays, and varied dysmorphic features, highlighting diagnostic challenges.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Ring chromosome 14 (r(14)) and monosomy 14 mosaicism are rare chromosomal abnormalities.
- Epilepsy is a common neurological disorder associated with various genetic conditions.
Observation:
- Three male patients with r(14) and monosomy 14 mosaicism presented with epileptic seizures.
- Clinical features included microcephaly, alopecia, mild motor and mental retardation, and developmental delay.
- Seizure types varied, including complex partial seizures, generalized seizures, and atonic seizures with respiratory arrest.
Findings:
- All three patients exhibited drug-resistant epilepsy, unresponsive to standard antiepileptic medications.
- Electroencephalography (EEG) showed interictal spikes in specific brain regions (right occipital and left central).
- Dysmorphic features were present but not consistently typical for ring 14 chromosome.
Implications:
- This case series emphasizes the significant association between r(14)/monosomy 14 mosaicism and severe, refractory epilepsy in children.
- Understanding the phenotype associated with this chromosomal abnormality is crucial for accurate diagnosis and management.
- Further research is needed to explore potential targeted therapies for epilepsy in patients with ring chromosome 14.