Proof of progression over time: Finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation

被引：4

作者：

Boes, M. ^{[1
]}

Bauer, J. ^{[1
]}

Urbach, H. ^{[2
]}

Elger, C. E. ^{[1
]}

Frank, S. ^{[3
]}

Baron, M. ^{[1
]}

Zsurka, G. ^{[1
]}

Kunz, W. S. ^{[1
]}

Kornblum, C. ^{[4
]}

机构：

[1] Univ Hosp Bonn, Dept Epileptol, D-53105 Bonn, Germany

[2] Univ Hosp Bonn, Dept Radiol, D-53105 Bonn, Germany

[3] Univ Hosp Bonn, Dept Neuropathol, D-53105 Bonn, Germany

[4] Univ Hosp Bonn, Dept Neurol, D-53105 Bonn, Germany

来源：

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2009年 / 18卷 / 03期

关键词：

Alpers syndrome; POLG mutation; Epileptic seizure; Brain MRI; NEURODEGENERATIVE DISORDERS; MITOCHONDRIAL; SPECTRUM;

D O I：

10.1016/j.seizure.2008.08.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

This case concerns a 17-year-old boy, who was given the diagnosis of Alpers syndrome only postmortem when a homozygous 1399G -> A (A467T) mutation was found in the linker-region of POLG1. serial muscle and liver biopsies as well as brain MRI scans in our patient ranging from early childhood to postmortem analyses showed that (i) routine diagnostic procedures can be normal in the early stage of the disorder and that (ii) central nervous system and further organ affection may only develop in the time course of the disease. Consecutive diagnostic examinations clearly reflected the devastating clinical course and Cerebral deterioration evolving over time in Alpers syndrome. (c) 2008 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

引用

页码：232 / 234

页数：3

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