title: Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa.
abstract: Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. We report two unrelated female patients born to consanguineous parents presenting with this condition. Patient 1 showed a classical clinical/neuroradiological phenotype of PCH2 with dyskinesia/dystonia. Patient 2 had a neonatal onset of PCH2 with polyhydramnios, apneic spells, myoclonus, and an akinetic/rigidity condition. Neuroradiologically, patient 2 showed extensive pancerebral degeneration. Based on these observations, and in accordance with the published cases, two groups of PCH2 patients may be defined: (a) patients with dyskinesia/dystonia, severe hypoplasia of the infratentorial structures and less severe involvement of the supratentorial brain; and (b) patients with polyhydramnios, neonatal onset with tremulousness (hyperekplexia), no spontaneous activity, absence of dyskinesia and pancerebral degeneration. Finally, we report a dramatic positive response of the patient with dyskinesia/dystonia to levodopa treatment, and discuss the associated physiopathological implications.
authors.affiliation: Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci - Le scotte, 53100 Siena, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.forename: Rosa
authors.initials: R
authors.lastname: Mostadini
authors.forename: Maddalena
authors.initials: M
authors.lastname: Cioni
authors.forename: Paolo
authors.initials: P
authors.lastname: Galluzzi
authors.forename: Guido
authors.initials: G
authors.lastname: Morgese
authors.forename: Paolo
authors.initials: P
authors.lastname: Balestri
mesh_terms: D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics; D009434:Neural Pathways / Q000002:abnormalities* / Q000473:pathology* / Q000503:physiopathology; D009849:Olivopontocerebellar Atrophies / Q000473:pathology* / Q000503:physiopathology*; D010375:Pedigree; D010641:Phenotype; D011149:Pons / Q000002:abnormalities* / Q000473:pathology* / Q000503:physiopathology; D016548:Prosencephalon / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology