Bilateral Putaminal Necrosis Associated With the Mitochondrial DNA A8344G Myoclo

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J Child Neurol. 2006 Jan;21(1):79-82.

Bilateral Putaminal Necrosis Associated With the Mitochondrial DNA

A8344G Myoclonus Epilepsy With Ragged Red Fibers (MERRF) Mutation: An

Infantile Case.

Orcesi S, Gorni K, Termine C, Uggetti C, Veggiotti P, Carrara F,

Zeviani M, Berardinelli A, Lanzi G.

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).