Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings

Steinlin, Maja; Klein, Andrea; Haas-Lude, Karin; Zafeiriou, Dimitrios; Strozzi, Susi; Müller, Thomas; Gubser-Mercati, Danielle; Schmitt Mechelke, Thomas; Krägeloh-Mann, Ingeborg; Boltshauser, Eugen (2007). Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings. European journal of paediatric neurology, 11(3), pp. 146-52. Oxford: Elsevier 10.1016/j.ejpn.2006.11.012

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We report 24 children (14 girls) who presented with the typical neuroimaging findings of pontocerebellar hypoplasia (PCH) to describe the clinical spectrum of type 2. Twenty-one presented with the classical form described by Barth; characteristic features (15/21) were breathing and/or sucking problems during neonatal period and early onset hyperkinetic movement disorder. Eighteen were normocephalic at birth, but all developed microcephaly during infancy. Development was severely affected with none of the children being capable of sitting, walking, or talking. Social contact and visual fixation were persistently poor. Dyskinetic movement disorder was present in all, in some together with mild spasticity. Seizures occurred in 14 (in 7 as neonates). Eight children died (age 1 day-6 years). Neuroimaging showed an absent or severely flattened pons, different degrees of vermian hypoplasia, with cerebellar hemispheres (wing-like structures) being equally or more affected. Three (all girls) were less severely affected clinically and did not develop the dyskinetic movement disorder, motor and cognitive development were somewhat better. Microcephaly was also a prominent sign. Severity of pontocerebellar neuroimaging findings did not differentiate between the typical and atypical clinical group and did not correlate with clinical outcome.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Steinlin, Maja and Strozzi, Susi

ISSN:

1090-3798

ISBN:

17320436

Publisher:

Elsevier

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:51

Last Modified:

17 Mar 2015 21:54

Publisher DOI:

10.1016/j.ejpn.2006.11.012

PubMed ID:

17320436

Web of Science ID:

000246401100004

URI:

https://boris.unibe.ch/id/eprint/21503 (FactScience: 7270)

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