This article is commented on by Krägeloh-Mann, p. 694 of this issue.
Outcome of severe unilateral cerebellar hypoplasia
Article first published online: 23 OCT 2009
© The Authors. Journal compilation © Mac Keith Press 2009
Developmental Medicine & Child Neurology
Volume 52, Issue 8, pages 718–724, August 2010
How to Cite
PORETTI, A., LIMPEROPOULOS, C., ROULET-PEREZ, E., WOLF, N. I., RAUSCHER, C., PRAYER, D., MÜLLER, A., WEISSERT, M., KOTZAERIDOU, U., DU PLESSIS, A. J., HUISMAN, T. A. G. M. and BOLTSHAUSER, E. (2010), Outcome of severe unilateral cerebellar hypoplasia. Developmental Medicine & Child Neurology, 52: 718–724. doi: 10.1111/j.1469-8749.2009.03522.x
ACKNOWLEDGEMENTS We thank the patients and their families for participating in our study.
- Issue published online: 8 JUL 2010
- Article first published online: 23 OCT 2009
- PUBLICATION DATA Accepted for publication 10th August 2009. Published online.
Aim Complete or subtotal absence of one cerebellar hemisphere is exceptional; only single cases have been described. We aimed to assess the long-term outcome in children with severe unilateral cerebellar hypoplasia (UCH).
Method As part of a retrospective study we describe neuroimaging features, clinical findings, and cognitive outcomes of seven children with UCH (five males, two females; age at first magnetic resonance imaging [MRI]: median 1y 3mo, range 9d–8y 10mo; age at latest follow-up: median 6y 6mo, range 2y 3mo–14y 11mo).
Results One child had abnormalities on prenatal MRI at 21 weeks’ gestation. The left cerebellar hemisphere was affected in five children, and the right hemisphere in two children. The vermis was involved in five children. The volume of the posterior fossa was variable. At the latest follow-up, neurological findings included truncal ataxia and muscular hypotonia in five children, limb ataxia in three patients, and head nodding in two patients. Three children had learning disability*, five had speech and language disorders, and one had a severe behavioural disorder.
Interpretation Severe UCH is a residual change after a disruptive prenatal cerebellar insult, most likely haemorrhagic. The outcome is variable, ranging from almost normal development to marked developmental impairment. Ataxia is a frequent but not a leading sign. It seems that involvement of the cerebellar vermis is often, but not consistently, associated with a poorer cognitive outcome, whereas an intact vermis is associated with normal outcome and no truncal ataxia.