title: Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2.
abstract: 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.
authors.affiliation: 1st Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Dimitrios I
authors.initials: DI
authors.lastname: Zafeiriou
authors.forename: Athina
authors.initials: A
authors.lastname: Ververi
authors.forename: Anastasia
authors.initials: A
authors.lastname: Tsitlakidou
authors.forename: Athanasia
authors.initials: A
authors.lastname: Anastasiou
authors.forename: Euthymia
authors.initials: E
authors.lastname: Vargiami
mesh_terms: D002675:Child, Preschool; D006801:Humans; D015994:Incidence; D008279:Magnetic Resonance Imaging; D008297:Male; D009212:Myoglobinuria / Q000453:epidemiology / Q000209:etiology*; D009849:Olivopontocerebellar Atrophies / Q000150:complications* / Q000473:pathology; D012141:Respiratory Tract Infections / Q000150:complications