Titre
Outcome of severe unilateral cerebellar hypoplasia.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Developmental Medicine and Child Neurology
Auteur(s)
Poretti, Andrea
Auteure/Auteur
Limperopoulos, Catherine
Auteure/Auteur
Roulet-Perez, Eliane
Auteure/Auteur
Wolf Nicole, I.
Auteure/Auteur
Rauscher, Christian
Auteure/Auteur
Prayer, Daniela
Auteure/Auteur
Mueller, Anita
Auteure/Auteur
Weissert, Markus
Auteure/Auteur
Kotzaeridou, Urania
Auteure/Auteur
Du Plessis Adre, J.
Auteure/Auteur
Huisman Thierry, A.G.M.
Auteure/Auteur
Boltshauser, Eugen
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
1469-8749[electronic], 0012-1622[linking]
Statut éditorial
Publié
Date de publication
2009
Volume
52
Numéro
8
Première page
718
Dernière page/numéro d’article
724
Langue
anglais
Résumé
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.
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.
PID Serval
serval:BIB_DFCD1CF6B6C9
PMID
Open Access
Oui
Date de création
2010-07-26T09:05:14.962Z
Date de création dans IRIS
2025-05-21T05:58:35Z