title: A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers.
abstract: We describe two brothers with an autosomal recessive syndrome characterized by neonatal onset, severe impairment of cognitive and motor functions, abnormal ocular movements and slight dystonic postures. Brain MR and CT scan showed a reduction in size of the cerebellum and to a lesser extent pons, accompanied by cerebral and cerebellar white matter abnormalities. These data suggest that they have a particular phenotype of pontocerebellar hypoplasia. Extensive laboratory investigation excluded known metabolic causes of pontocerebellar hypoplasia. We discuss the nosological status of pontocerebellar hypoplasia in relation to other early-onset pontocerebellar disorders.
authors.affiliation: Institute of Neurological Sciences, University of Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: M
authors.initials: M
authors.lastname: Villanova
authors.forename: E
authors.initials: E
authors.lastname: Parrotta
authors.forename: F
authors.initials: F
authors.lastname: Sicurelli
authors.forename: D
authors.initials: D
authors.lastname: Amato
authors.forename: D
authors.initials: D
authors.lastname: DeFalco
authors.forename: G C
authors.initials: GC
authors.lastname: Guazzi
mesh_terms: D000293:Adolescent; D000328:Adult; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000473:pathology*; D025063:Chromosome Disorders; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005192:Family Health; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009069:Movement Disorders / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009412:Nerve Fibers / Q000473:pathology*; D009679:Nuclear Family; D010641:Phenotype; D011149:Pons / Q000002:abnormalities* / Q000473:pathology