title: Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings.
abstract: 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.
authors.affiliation: Division of Neuropaediatrics, University Children's Hospital Berne, Iselspital, Bern, Switzerland. maja.steinlin@insel.ch
authors.forename: Maja
authors.initials: M
authors.lastname: Steinlin
authors.forename: Andrea
authors.initials: A
authors.lastname: Klein
authors.forename: Karin
authors.initials: K
authors.lastname: Haas-Lude
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Zafeiriou
authors.forename: Susi
authors.initials: S
authors.lastname: Strozzi
authors.forename: Thomas
authors.initials: T
authors.lastname: Müller
authors.forename: Danielle
authors.initials: D
authors.lastname: Gubser-Mercati
authors.forename: Thomas
authors.initials: T
authors.lastname: Schmitt Mechelke
authors.forename: Ingeborg
authors.initials: I
authors.lastname: Krägeloh-Mann
authors.forename: Eugen
authors.initials: E
authors.lastname: Boltshauser
mesh_terms: D001927:Brain Diseases / Q000473:pathology* / Q000503:physiopathology; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D011149:Pons / Q000002:abnormalities* / Q000473:pathology