2023年1月9日
Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality.
Brain & development
- 巻
- 45
- 号
- 4
- 開始ページ
- 231
- 終了ページ
- 236
- 記述言語
- 英語
- 掲載種別
- DOI
- 10.1016/j.braindev.2022.12.004
BACKGROUND: Heterozygous KCNQ2 variants cause benign familial neonatal seizures and early-onset epileptic encephalopathy in an autosomal dominant manner; the latter is called KCNQ2 encephalopathy. No case of KCNQ2 encephalopathy with arthrogryposis multiplex congenita has been reported. Furthermore, early-onset scoliosis and opisthotonus have not been documented as characteristics of KCNQ2 encephalopathy. CASE REPORT: A male infant born with scoliosis and arthrogryposis multiplex congenita developed intractable epilepsy on the second day of life. At 4 months of age, he developed opisthotonus. The opisthotonus was refractory to medication in the beginning, and it spontaneously disappeared at 8 months of age. Whole-exome sequencing revealed a novel de novo heterozygous variant in KCNQ2, NM_172107.4:c.839A > C, p.(Tyr280Ser). CONCLUSIONS: Early-onset scoliosis, arthrogryposis multiplex congenita, and opisthotonus may be related to KCNQ2 encephalopathy.
- リンク情報
- ID情報
-
- DOI : 10.1016/j.braindev.2022.12.004
- PubMed ID : 36631315