Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.

TitleBilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.
Publication TypeJournal Article
Year of Publication2006
AuthorsOrcesi, S, Gorni, K, Termine, C, Uggetti, C, Veggiotti, P, Carrara, F, Zeviani, M, Berardinelli, A, Lanzi, G
JournalJ Child Neurol
Volume21
Issue1
Pagination79-82
Date Published2006 Jan
ISSN0883-0738
KeywordsChild, Diagnosis, Differential, DNA Mutational Analysis, DNA, Mitochondrial, Electroencephalography, Functional Laterality, Humans, Magnetic Resonance Imaging, Male, MERRF Syndrome, Necrosis, Point Mutation, Putamen
Abstract

Myoclonus epilepsy with ragged red fibers (MERRF) is one of the major mitochondrial encephalomyopathies. Its main clinical features are myoclonus epilepsy, ataxia, and myopathy with ragged red fibers. Whereas there is a close correlation between MERRF syndrome and the A8344G mutation of mitochondrial DNA, the reverse is not true. In fact, this mutation is also responsible for various other syndromes, such as Leigh syndrome, spinocerebellar degeneration, atypical Charcot-Marie-Tooth disease, and multiple truncal lipomas. We describe a child with the A8344G mutation of mitochondrial DNA and an unusual clinical, neuroradiologic, and biochemical phenotype, characterized by early-onset, nonprogressive cerebellar ataxia, and subclinical myoclonias in association with bilateral putaminal necrosis on magnetic resonance imaging and a reduction in complex V activity. Our case confirms the existence of a relationship between alteration in adenosine triphosphatase activity and basal ganglia involvement. We recommend that the possibility of a mitochondrial pathology should always be taken into consideration in the presence of bilateral symmetric lesions of the basal ganglia, even when the typical clinical picture is lacking. (J Child Neurol 2006;21:79-82).

DOI10.1177/08830738060210010901
Alternate JournalJ. Child Neurol.
Citation Key10.1177/08830738060210010901
PubMed ID16551460