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ID 114240
Author
Toda, Yoshihiro Tokushima University
Ito, Hiromichi Tokushima University|Naruto University of Education KAKEN Search Researchers
Kohmoto, Tomohiro Tokushima University|Aichi Cancer Center Research Institute
Imoto, Issei Tokushima University|Aichi Cancer Center Research Institute|Nagoya University KAKEN Search Researchers
Keywords
16q
Interstitial deletion
Epilepsy
West syndrome
Lamotrigine
Sodium valproate
Content Type
Journal Article
Description
In partial monosomy of the distal part of chromosome 16q, abnormal facial features, intellectual disability (ID), and feeding dysfunction are often reported. However, seizures are not typical and the majority of them were seizure-free. Here we present the case of a 16q22.2-q23.1 interstitial deletion identified in a male patient with severe ID, facial anomalies including forehead protrusions and flat nose bridge, patent ductus arteriosus, bilateral vocal cord atresia treated by tracheotomy, and West syndrome, which were developed 10 months after birth. Although phenobarbital, sodium valproate (VPA), and zonisamide were not effective as monotherapies or combination therapies, the patient's epileptic seizures and electroencephalogram anomalies disappeared following combined therapy with lamotrigine and VPA. Although WW Domain Containing Oxidoreductase (WWOX), which is known as a cause of autosomal recessive epileptic encephalopathy, was included within the 6.8-Mb deleted region which identified by targeted panel sequencing and validated by chromosomal microarray analysis, no pathogenic variants were detected in the other allele of WWOX. Therefore, it is possible that other genes within or outside of the long deleted region or their interactions may cause West syndrome in this patient.
Journal Title
Brain and Development
ISSN
03877604
NCID
AA00111153
AA11521714
Publisher
The Japanese Society of Child Neurology|Elsevier
Volume
41
Issue
10
Start Page
888
End Page
893
Published Date
2019-07-25
Rights
© 2019. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
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DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Author
departments
University Hospital
Medical Sciences