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: Salvatore Grosso, Rosa Mostadini, Maddalena Cioni, Paolo Galluzzi, Guido Morgese, Paolo Balestri
• Journal: Journal of neurology (J Neurol) Vol. 249 Issue 5 Pg. 596-600 (May 2002) ISSN: 0340-5354 [Print] Germany
• PMID: 12021950 (Publication Type: Case Reports, Journal Article)

Topics

• Cerebellum (abnormalities, pathology, physiopathology)
• Child
• Child, Preschool
• Chromosome Disorders (pathology, physiopathology)
• Female
• Genes, Recessive (genetics)
• Humans
• Magnetic Resonance Imaging
• Mutation (genetics)
• Neural Pathways (abnormalities, pathology, physiopathology)
• Olivopontocerebellar Atrophies (pathology, physiopathology)
• Pedigree
• Phenotype
• Pons (abnormalities, pathology, physiopathology)
• Prosencephalon (abnormalities, pathology, physiopathology)