A Case of Neuronal Ceroid Lipofuscinosis Masquerading as Panayiotopoulos Syndrome

被引：0

作者：

Albert, Dara ^{[1
]}

De los Reyes, Emily ^{[1
]}

Vidaurre, Jorge ^{[1
]}

机构：

[1] Ohio State Univ, Div Pediat Neurol, Nationwide Childrens Hosp, Columbus, OH 43210 USA

来源：

JOURNAL OF PEDIATRIC EPILEPSY | 2016年 / 5卷 / 01期

关键词：

neuronal ceroid lipofuscinosis; Panayiotopoulos syndrome; pediatric epilepsy; electroence-phalographic;

D O I：

10.1055/s-0035-1567855

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Neuronal ceroid lipofuscinosis (NCL) is probably the most common group of childhood progressive neurodegenerative disorders that typically present in childhood, and are uniformly fatal. We present here an unusual case of NCL based on clinical and electroencephalographic features as well as review the current literature on the early features of NCL. The purpose is to alert physicians about the atypical presentations of NCL encountered in clinical practice and to broaden their differential considerations so that earlier diagnoses can be made. In particular, patients presenting with epilepsy and behavioral problems who show developmental regression warrant further investigation.

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页码：47 / 52

页数：6

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