Dentato rubro pallido



Keywords: dentato rubro pallido
Description: Akemi Tomoda MD 1, Makoto Ikezawa MD 1 Yoshinobu Ohtani MD 1 Teruhisa Miike MD 1 Toshihide Kumamoto MD 2 1 Department of Child Development, Kumamoto University Medical School, Kumamoto 2

    Akemi Tomoda MD 1, Makoto Ikezawa MD 1 Yoshinobu Ohtani MD 1 Teruhisa Miike MD 1 Toshihide Kumamoto MD 2
    1 Department of Child Development, Kumamoto University Medical School, Kumamoto 2 Department of First Internal Medicine, Kumamoto University Medical School, Kumamoto

A 22-year-old female with progressive myoclonus epilepsy (PME) considered to be due to hereditary dentato-rubro-pallido-luysian atrophy (DRPLA) was reported. Some of her family members showed progressive myoclonus, seizures, dementia, ataxia and choreoathetosis, with variation of onset from childhood to adult life, which suggested that they had been suffering from DRPLA. CT scan and MRI studies, including some on family members, revealed cerebral and cerebellar atrophy accompanied by dilatation of the fourth ventricle, compatible with the findings in DRPLA reported previously. We emphasize that a detailed family history may be essential in dealing with a PME patient and that DRPLA should be considered in the differential diagnosis of the PME syndrome with onset in childhood, in Japan.






Photogallery Dentato rubro pallido:


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