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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227

Abstract

MATTA, André Palma da Cunha  and  RIBAS, Márcia Cristina Antunes. Hypomyelination with atrophy of the basal ganglia and cerebellum: case report. Arq. Neuro-Psiquiatr. [online]. 2007, vol.65, n.1, pp.161-163. ISSN 0004-282X.  http://dx.doi.org/10.1590/S0004-282X2007000100033.

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare disease that has been recently described. It must be remembered as a possible etiology of leukoencephalopathies in children. We describe a typical case of H-ABC in a 11-month-old boy. He presents with global development delay, oral dyskinesia, and global dystonia and spasticity. Magnetic resonance imaging disclosed typical features of H-ABC and clinical laboratory tests were all negative. A slow neurological deterioration has been detected with worsening of involuntary movements.

Keywords : hypomyelination; atrophy; basal ganglia; cerebellum.

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