Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality.
Brain Dev
; 45(4): 231-236, 2023 Apr.
Article
en En
| MEDLINE
| ID: mdl-36631315
ABSTRACT
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_172107.4c.839A > C, p.(Tyr280Ser).CONCLUSIONS:
Early-onset scoliosis, arthrogryposis multiplex congenita, and opisthotonus may be related to KCNQ2 encephalopathy.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Artrogriposis
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Escoliosis
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Encefalopatías
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Distonía
Límite:
Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Brain Dev
Año:
2023
Tipo del documento:
Article
País de afiliación:
Japón