A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestations-Reference-Cited by-同舟云学术

A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestations

Published:2021-02-26 Issue:3-4 Volume:15 Page:78-91
ISSN:2412-9178
Container-title:Russian Journal of Child Neurology
language:
Short-container-title:Rus. ž. det. nevrol.

Author:

Bobylova M. Yu.¹,Abramov M. O.²,Kovalskaya A. V.²,Alikhanov A. A.³,Mukhin K. Yu.¹

Affiliation:

1. Svt. Luka’s Institute of Child Neurology and Epilepsy; Svt. Luka’s Institute of Pediatric and Adult Neurology and Epilepsy

2. Svt. Luka’s Institute of Pediatric and Adult Neurology and Epilepsy

3. Svt. Luka’s Institute of Pediatric and Adult Neurology and Epilepsy; Russian Pediatric Clinical Hospital, N. I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Abstract

We report a case of a girl with a chromosomal disorder that has never been described in the literature: inversion of chromosome 4 with an unbalanced translocation between the short arm of chromosome 4 and long arm of chromosome 18. Clinical manifestations of this syndrome included severe growth retardation, very slow weight gain, optic nerve hypoplasia, pronounced delay in mental and motor development, and epilepsy with focal hemiclonic fever-related seizures of varying location. The patient has multiple stigmas of dysembryogenesis, but no abnormalities in the development of internal organs. The somatic status is complicated by chronic liquid aspiration and sleep apnea. Magnetic resonance imaging has demonstrated agenesis of the corpus callosum. In this article, we have summarized the results of clinical observation and electroencephalography findings obtained during several years. The type of epilepsy in this girl does not match Wolf–Hirschhorn syndrome (which is determined by her karyotype), but is similar to epilepsy in patients with aberrations of the long arm of chromosome 18.

Publisher

Publishing House ABV Press

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

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