Abstract
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.
Keywords
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Article info
Publication history
Accepted:
April 14,
2004
Received in revised form:
April 12,
2004
Received:
July 14,
2003
Footnotes
☆The paper is based on the lecture given at the 6th annual meeting of the Infantile Seizure Society, Tokyo, March 15–16, 2003.
Identification
Copyright
© 2005 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
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- Erratum to “An analysis of epilepsy with chromosomal abnormalities” [Brain Dev. 27 (2005) 370–377]Brain and DevelopmentVol. 27Issue 7
