title: Anterior horn cell disease and olivopontocerebellar hypoplasia.
abstract: To date, fewer than 30 cases of anterior horn cell disease with associated olivopontocerebellar hypoplasia have been reported. We describe five patients and review the literature on this uncommon disorder. In addition to a syndrome of progressive spinal muscular atrophy similar to that seen in Werdnig-Hoffmann disease, this disorder is characterised by hypoplasia of the olivary nuclei, pons, and cerebellum. Additional clinical features may include dysmorphism, abnormal eye movements, stridor, congenital joint contractures, and enlarged kidneys. Pontocerebellar hypoplasia may be associated with posterior fossa cystic malformations, cerebral atrophy, and a demyelinating neuropathy.
authors.affiliation: Department of Neurology; Royal Alexandra Hospital for Children;, Sydney, NSW, Australia.
authors.forename: M M
authors.initials: MM
authors.lastname: Ryan
authors.forename: C M
authors.initials: CM
authors.lastname: Cooke-Yarborough
authors.forename: P G
authors.initials: PG
authors.lastname: Procopis
authors.forename: R A
authors.initials: RA
authors.lastname: Ouvrier
mesh_terms: D002526:Cerebellar Diseases / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D016472:Motor Neuron Disease / Q000473:pathology*; D009123:Muscle Hypotonia / Q000473:pathology*; D009134:Muscular Atrophy, Spinal / Q000473:pathology*; D009847:Olivary Nucleus / Q000473:pathology; D011149:Pons / Q000473:pathology