Adolescent; Atrophy; Cerebellum/abnormalities/pathology; Child; Child, Preschool; Female; Genes, Recessive; Genetic Diseases, Inborn/pathology; Humans; Infant; Magnetic Resonance Imaging; Male
Abstract :
[en] 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.
Disciplines :
Pediatrics Neurology
Author, co-author :
RAMAEKERS, Vincent ; University Hospital Aachen, Germany > Paediatrics > Paediatric Neurology
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