Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa

J Neurol. 2002 May;249(5):596-600. doi: 10.1007/s004150200069.


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.

Publication types

  • Case Reports

MeSH terms

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