AI Article Synopsis
- A male infant was born with rigidity and limited movement, experiencing severe developmental delays and seizures that eventually led to his death at 10 months.
- Neurological tests did not show any metabolic defects related to dopamine, and treatment with a common Parkinson's drug was ineffective.
- The infant exhibited specific brain abnormalities linked to a rare condition and the report highlights a unique connection between these abnormalities and infantile parkinsonism that hasn’t been documented before.
Article Abstract
This report describes a male infant who presented since birth with rigidity and hypokinesia. Severe developmental delay, episodic central hypoventilation, and drug-resistant epilepsy progressively added to the extrapyramidal signs in the following months and led to the patient's death at 10 months of age. Neuroradiologic and neurometabolic evaluations were negative. Normal cerebrospinal metabolites excluded a defect in dopamine metabolism, and treatment with levodopa failed to improve his motor symptoms. Neuropathologic findings demonstrated dentato-olivary dysplasia. While isolated dentato-olivary dysplasia has been described in a few cases of Ohtahara syndrome, to our knowledge, the association with infantile parkinsonism has not been previously reported.
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| http://dx.doi.org/10.1016/j.pediatrneurol.2005.08.003 | DOI Listing |
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Article Synopsis
- A male infant was born with rigidity and limited movement, experiencing severe developmental delays and seizures that eventually led to his death at 10 months.
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- The infant exhibited specific brain abnormalities linked to a rare condition and the report highlights a unique connection between these abnormalities and infantile parkinsonism that hasn’t been documented before.
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