Recent advances in diagnosis and treatment of PEHO syndrome
10.3760/cma.j.issn.1008-1372.2018.09.004
- VernacularTitle:PEHO综合征诊疗新进展
- Author:
Jing LIU
1
;
Yue NIU
;
Lili TONG
;
Shuangshuang SONG
;
Yan LI
;
Ruopeng SUN
;
Baomin LI
Author Information
1. 山东大学齐鲁医院儿科
- Keywords:
Brain edema;
Optic atrophy;
Spasms,infantile;
Neurodegenerative diseases;
Review
- From:
Journal of Chinese Physician
2018;20(9):1292-1294
- CountryChina
- Language:Chinese
-
Abstract:
The progressive encephalopathy with edema,hypsarrhythmia,and optic atrophy (PEHO) syndrome is a unique pediatric neurodevelopmental disorder,characterized by a combination of severe mental retardation,early onset epileptic seizures,pedal edema,optic/cerebellar atrophy,and early death.The affected individuals have neither optic atrophy nor the typical neuroradiological findings has been described as PEHO-like syndrome.At present,there are few reports about PEHO syndrome in China.In this study,we summarizes the incidence,etiology,clinical manifestations,and related genes of PEHO syndrome,and aims to provide assistance for future clinical work.
