Morimoto Masafumi, Usuku Tomohiro, Tanaka Masayuki, Otabe Osamu, Nishimura Akira, Ochi Masaharu, Takeuchi Yoshihiro, Yoshioka Hiroshi, Sugimoto Tohru
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Epilepsia. 2003 Sep;44(9):1245-9. doi: 10.1046/j.1528-1157.2003.05403.x.
Three patients showing epileptic seizures and with mosaicism of ring chromosome 14 and monosomy for chromosome 14 are described. Patients were a 17-year-old boy, karyotype 46, XY, r(14)(p12q32.33)/45, XY, -14, a 7-month-old boy, karyotype 46, XY, r(14)(p11.2q32.33)/45, XY, -14, and a 10-month-old boy, karyotype 46, XY, r(14)(p12q32.31)/45, XY, -14. Microcephaly and alopecia were observed in the first patient. However, few dysmorphic features were found typical of ring 14 chromosome. He had exhibited complex partial seizures with secondary generalization at age 3 months and had mild motor and mental retardation. Both other patients had atonic seizures followed by staring, perioral cyanosis, and respiratory arrest at age 7 or 8 months. Both also showed mild developmental delay and had a few minor anomalies compatible with ring 14 chromosome. Interictal spikes were observed in the second patient in the right occipital region, whereas an interictal encephalogram of the third patient showed sporadic spikes in the left central region. In all three cases, seizures were resistant to common antiepileptic drugs.
