An analysis of epilepsy with chromosomal abnormalities

We retrospectively reviewed the medical records of neonates with chromosomal abnormalities and epilepsy who had been admitted to the neonatal intensive care unit (NICU) and followed up at the outpatient clinic of Dokkyo University School of Medicine. Chromosomal anomalies were diagnosed in 128 of 5789 patients admitted from 1978 through 2001. Seventy-one neonates had trisomy 21, 29 had trisomy 18, 8 had trisomy 13, and 20 had other chromosomal anomalies. Seizures occurred in five patients with trisomy 21 and in one patient each with trisomy 18, 6q−, 13q−, 21q−, and mosaicism trisomy 13. Two patients with 4p- [Wolf-Hirschhorn syndrome] were admitted to the NICU, but were not followed up at our outpatient clinic. The boy with 6q− (46,XY,-6, +der(6)t(6;11)(q25.1;q23.3)mat) had agenesis of the corpus callosum and multiple congenital anomalies as well as intractable epilepsy. The girl with 13q− (46, XX, t(2,4)(q24.2;p14), del (13)(q21.2q31.2)) had infantile spasms at 12 months, which were well controlled with nitrazepam and vitamin B6. The girl with mosaic trisomy 8q; (46, XX, der(8) (qter→q11.2::p23.3→qter)/46, XX), was not born at our hospital, but showed unique clinical features. She had intractable epilepsy characterized by episodes of vomiting and staring with astatic seizures. Computed tomography of the brain revealed bilateral calcification in the globus pallidus, associated with bursts of high-amplitude slow waves on electroencephalography. One of the two patients with del(15)(q12)[Angelman syndrome] had giant-amplitude visual evoked potential, suggesting hyperexcitability of the visual cortex.