Title

Compound Heterozygous Polymerase Gamma Gene Mutation in a Patient With Alpers Disease

Department

neurology

Document Type

Article

Abstract

Alpers disease is a mitochondrial depletion syndrome characterized by psychomotor retardation, intractable epilepsy, and liver failure. Polymerase gamma (POLG) gene mutations are a known cause of the disease. We describe a case in which a 14-month-old female presented with epilepsia partialis continua evolving into generalized status epilepticus. Treatment with multiple antiepileptic medications and the ketogenic diet eliminated her seizures, but she remained severely encephalopathic. Magnetic resonance imaging showed diffuse atrophy of gray-matter structures. She ultimately developed liver failure and died. Mitochondrial analysis revealed compound heterozygosity for 3 POLG gene mutations, 2 of which were previously unreported. © 2010 Elsevier Inc.

Medical Subject Headings

neurology

Publication Date

2010

Publication Title

Seminars in Pediatric Neurology

ISSN

10719091

Volume

17

Issue

1

First Page

62

Last Page

64

Digital Object Identifier (DOI)

10.1016/j.spen.2010.02.012

This document is currently not available here.

Share

COinS