title: Neonatal rigid-akinetic syndrome and dentato-olivary dysplasia.
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.
authors.affiliation: Pediatric Neurology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
authors.forename: Miquel
authors.initials: M
authors.lastname: Raspall
authors.forename: Arantxa
authors.initials: A
authors.lastname: Ortega-Aznar
authors.forename: Mireia
authors.initials: M
authors.lastname: del Toro
authors.forename: Manuel
authors.initials: M
authors.lastname: Roig
authors.forename: Alfons
authors.initials: A
authors.lastname: Macaya
mesh_terms: D002529:Cerebellar Nuclei / Q000002:abnormalities*; D017809:Fatal Outcome; D006801:Humans; D018476:Hypokinesia / Q000151:congenital*; D007231:Infant, Newborn; D008297:Male; D009127:Muscle Rigidity / Q000151:congenital*; D009847:Olivary Nucleus / Q000002:abnormalities*; D020734:Parkinsonian Disorders / Q000151:congenital*; D013577:Syndrome