Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2

Neuromuscul Disord. 2013 Feb;23(2):116-9. doi: 10.1016/j.nmd.2012.08.004. Epub 2012 Nov 22.


Pontocerebellar hypoplasia type 2 is an autosomal recessive disorder characterized by hypoplasia and atrophy of the cerebellum and pons, leading to microcephaly, dystonia/dyskinesia, seizures, and severe cognitive impairment. Until lately it was considered a CNS-refined disease, but recent reports have associated it with muscular defects, as well. A 5-year-old boy with genetically confirmed pontocerebellar hypoplasia type 2 is described. The patient had all the clinical and radiological features of the disease, but he, additionally, exhibited two episodes of rhabdomyolysis precipitated by respiratory infections. The possible mechanisms associating encephalopathy and myopathy in pontocerebellar hypoplasia type 2 are discussed.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Humans
  • Incidence
  • Magnetic Resonance Imaging
  • Male
  • Myoglobinuria / epidemiology
  • Myoglobinuria / etiology*
  • Olivopontocerebellar Atrophies / complications*
  • Olivopontocerebellar Atrophies / pathology
  • Respiratory Tract Infections / complications

Supplementary concepts

  • Myoglobinuria, Acute Recurrent, Autosomal Recessive
  • Pontocerebellar Hypoplasia Type 2