title: Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2).
abstract: Pontocerebellar hypoplasia type 2, an autosomal recessive neurodegeneration with prenatal onset, is characterised by progressive microcephaly and chorea/dystonia and has not previously been associated with muscular involvement. The gene associated with PCH-2 is unknown. An episode of rhabdomyolysis is reported in two non-related children with PCH-2, fatal in one, precipitated by intercurrent disease. Muscle biopsies in two other PCH-2 patients, and in one rhabdomyolysis patient whose biopsy antedated this complication showed areas of myofibrillar disruption or necrosis. Postmortem muscle sampled in another case without neuromuscular symptoms revealed focal necrosis, regenerating small fibres and upregulation of HLA-ABC. Random serum creatine kinase values in six other PCH-2 patients without clinical signs of neuromuscular involvement were increased in four. Collected data provide preliminary evidence of a subclinical myopathy associated with PCH-2.
authors.affiliation: Department of Paediatric Neurology, Room # G8-211, Emma Children's Hospital/Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD Amsterdam, The Netherlands. p.g.barth@amc.uva.nl
authors.forename: Peter G
authors.initials: PG
authors.lastname: Barth
authors.forename: Monique M
authors.initials: MM
authors.lastname: Ryan
authors.forename: Richard I
authors.initials: RI
authors.lastname: Webster
authors.forename: Eleonora
authors.initials: E
authors.lastname: Aronica
authors.forename: Alex
authors.initials: A
authors.lastname: Kan
authors.forename: Marja
authors.initials: M
authors.lastname: Ramkema
authors.forename: Philip
authors.initials: P
authors.lastname: Jardine
authors.forename: Bwee Tien
authors.initials: BT
authors.lastname: Poll-The
mesh_terms: D000328:Adult; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006680:HLA Antigens / Q000032:analysis / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D046529:Microscopy, Electron, Transmission; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D009336:Necrosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009849:Olivopontocerebellar Atrophies / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D011149:Pons / Q000002:abnormalities*; D012206:Rhabdomyolysis / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology