(SGSH), tissues accumulation of heparan sulfate and high urine excretion. Neuropsychiatric features prevail on somatic ones and mainly consist of behavioral disturbances, psychomotor and speech delay. Brain MRI shows cystic changes in the corpus callosum, basal ganglia and white matter, and diffuse atrophy. We describe a 13-years-old boy with MPSIIIA presenting attacks of hemichorea-hemiballism. These features were not reported in MPSIIIA. Treatment with pimozide stopped the attacks, with a 13-months of follow-up. Hemichorea-hemiballism may be considered in patients with MPSIIIA. The involvement of the basal ganglia could explain this finding.
Hemichorea-hemiballism associated with Mucopolysaccaridosis type IIIa
DI ROSA, GABRIELLA;TORTORELLA, Gaetano
2012-01-01
Abstract
(SGSH), tissues accumulation of heparan sulfate and high urine excretion. Neuropsychiatric features prevail on somatic ones and mainly consist of behavioral disturbances, psychomotor and speech delay. Brain MRI shows cystic changes in the corpus callosum, basal ganglia and white matter, and diffuse atrophy. We describe a 13-years-old boy with MPSIIIA presenting attacks of hemichorea-hemiballism. These features were not reported in MPSIIIA. Treatment with pimozide stopped the attacks, with a 13-months of follow-up. Hemichorea-hemiballism may be considered in patients with MPSIIIA. The involvement of the basal ganglia could explain this finding.Pubblicazioni consigliate
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