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Recent advances in diagnosis and treatment of PEHO syndrome / 中国医师杂志
Journal of Chinese Physician ; (12): 1292-1294, 2018.
Article in Chinese | WPRIM | ID: wpr-705984
Responsible library: WPRO
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.

Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: Journal of Chinese Physician Year: 2018 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: Journal of Chinese Physician Year: 2018 Type: Article