Hypomyelination with atrophy of the basal ganglia and cerebellum: case report |
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Authors: | Matta André Palma da Cunha Ribas Márcia Cristina Antunes |
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Affiliation: | Servi?o de Neurologia, Hospital Universitário, Faculdade de Medicina, Universidade Federal Fluminense, Niterói, RJ, Brazil. andrepcmatta@hotmail.com |
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Abstract: | 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. |
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