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Neonatal rigid-akinetic syndrome and dentato-olivary dysplasia
Miquel Raspall1, Arantxa Ortega-Aznar, Mireia del Toro
1Pediatric Neurology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Insights
A rare case of infantile parkinsonism associated with dentato-olivary dysplasia is presented. This severe condition, marked by motor deficits and epilepsy, led to early death, highlighting a previously unreported neurological disorder.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Infantile parkinsonism is a rare movement disorder affecting infants.
- Dentato-olivary dysplasia is a malformation of the cerebellum and brainstem.
Observation:
- A male infant presented with congenital rigidity and hypokinesia.
- Progressive symptoms included severe developmental delay, central hypoventilation, and drug-resistant epilepsy.
Findings:
- Neuroradiologic and neurometabolic investigations were unremarkable.
- Neuropathology revealed dentato-olivary dysplasia.
- Levodopa treatment was ineffective.
Implications:
- This case reports a novel association between dentato-olivary dysplasia and infantile parkinsonism.
- This finding expands the spectrum of neurological disorders associated with cerebellar malformations.
- Further research is needed to understand the underlying mechanisms and genetic basis of this condition.
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.
