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Bilateral Putaminal Necrosis Associated With the Mitochondrial DNA A8344G Myoclonus Epilepsy With Ragged Red Fibers (MERRF) Mutation: An Infantile Case

Department of Child Neurology and Psychiatry Regional Referral Center for Neuromuscular Disorders in Childhood IRCCS "C. Mondino" Foundation University of Pavia Pavia, Italy, simona.orcesi{at}mondino.it

Ksenija Gorni, MD

Department of Child Neurology and Psychiatry Regional Referral Center for Neuromuscular Disorders in Childhood IRCCS "C. Mondino" Foundation University of Pavia Pavia, Italy

Cristiano Termine, MD

Child Neuropsychiatry Unit University of Insubria Varese, Italy

Carla Uggetti, MD

Neuroradiological Unit IRCCS "C. Mondino" Foundation Pavia, Italy

Pierangelo Veggiotti, MD

Department of Child Neurology and Psychiatry IRCCS "C. Mondino" Foundation University of Pavia Pavia, Italy

Franco Carrara, BSc

Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders "Carlo Besta" Neurological Institute Milan, Italy

Massimo Zeviani, MD

Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders "Carlo Besta" Neurological Institute Milan, Italy

Angela Berardinelli, MD

Department of Child Neurology and Psychiatry Regional Referral Center for Neuromuscular Disorders in Childhood IRCCS "C. Mondino" Foundation University of Pavia Pavia, Italy

Giovanni Lanzi, MD

Department of Child Neurology and Psychiatry Regional Referral Center for Neuromuscular Disorders in Childhood IRCCS "C. Mondino" Foundation University of Pavia Pavia, Italy

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).

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