[Recurrent convulsion and pulmonary infection complicated by psychomotor retardation in an infant].
Zhongguo Dang Dai Er Ke Za Zhi
; 20(2): 154-157, 2018 Feb.
Article
en Zh
| MEDLINE
| ID: mdl-29429466
ABSTRACT
A 4-month-old girl developed convulsion in the neonatal period, which was focal motor seizures in the initial stage and later became spasm and tonic spasm. And the girl also had psychomotor retardation and recurrent pulmonary infection. Electroencephalography showed hypsarrhythmia, normal results were obtained from cranial magnetic resonance imaging, cerebrospinal fluid examination, and urine organic acid analysis, as well as the spectral analyses of blood ammonia, blood lactic acid, blood amino acids, and acylcarnitines. Gene detection revealed a de novo heterozygous mutation, c.607G>A (p.G203R) , in GNAO1. The girl was then diagnosed with GNAO1-associated early infantile epileptic encephalopathy (EIEE type 17). The seizures were well controlled by topiramate and vigabatrin, but there was no improvement in psychomotor development. She also suffered from recurrent pulmonary infection and died at the age of 12 months due to severe pneumonia. For children with unexplained early infantile epileptic encephalopathy, GNAO1 gene mutations should be considered and genetic tests should be performed as early as possible. Recurrent pulmonary infection should also be taken seriously.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
4_TD
Problema de salud:
4_pneumonia
Asunto principal:
Neumonía
/
Trastornos Psicomotores
/
Espasmos Infantiles
Límite:
Female
/
Humans
/
Infant
Idioma:
Zh
Revista:
Zhongguo Dang Dai Er Ke Za Zhi
Año:
2018
Tipo del documento:
Article
País de afiliación:
China