title: Genetic disorders and cerebellar structural abnormalities in childhood.
abstract: Amongst 78 patients with either unilateral or bilateral (ponto-) cerebellar hypoplasia, atrophy or lesions on neuro-imaging (CT and/or MRI), 16 showed unilateral hypoplasia or lesions, 15 vermis defects, nine pontocerebellar hypoplasia, 10 non-progressive conditions with bilateral cerebellar hemisphere hypoplasia or lesions and 28 progressive cerebellar atrophy. Known genetic conditions did not occur with unilateral cerebellar involvement, whereas a high incidence of mostly autosomal recessively inherited diseases could be diagnosed in more than half of the patients with either pontocerebellar hypoplasia or progressive bilateral cerebellar atrophy. A minority of patients with vermis defects or non-progressive cerebellar hypoplasia suffered from genetic conditions. An overview of the literature is presented describing genetic and non-genetic syndromes, or metabolic disorders associated with cerebellar structural abnormalities. From these data, new proposals for improved diagnostic investigations will be presented.
authors.affiliation: Division of Paediatric Neurology, University Hospital Aachen, Germany.
authors.forename: V T
authors.initials: VT
authors.lastname: Ramaekers
authors.forename: G
authors.initials: G
authors.lastname: Heimann
authors.forename: J
authors.initials: J
authors.lastname: Reul
authors.forename: A
authors.initials: A
authors.lastname: Thron
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D000293:Adolescent; D001284:Atrophy; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male