Original Article 228 Poretti A et al. Cerebellar Cleft: Confirmation of the Neuroimaging Pattern . Neuropediatrics 2009; 40: 228–233 received 26.11.2009 accepted 22.01.2010 Bibliography DOI http://dx.doi.org/ 10.1055/s-0030-1248265 Neuropediatrics 2009; 40: 228–233 © Georg Thieme Verlag KG Stuttgart · New York ISSN 0174-304X Correspondence Andrea Poretti Department of Pediatric Neurology University Children’s Hospital Steinwiesstraße 75 8032 Zurich Switzerland Tel.: + 41/44/266 7330 Fax: + 41/44/266 7163 Andrea.Poretti@kispi.uzh.ch Key words ● ▶ cerebellar cleft ● ▶ cerebellar hemorrhage ● ▶ cerebellar disruption Cerebellar Cleft: Confirmation of the Neuroimaging Pattern irregular gray/white matter junction, and a lack of the normal architecture of the white matter confined only to the region adjacent to the cleft are typical neuroimaging findings. We now report 9 additional patients with cere- bellar cleft, presenting the clinical history, the neuroimaging findings and current neurodevel- opment. We aim to confirm the neuroimaging pattern and extend the pathogenetic spectrum of cerebellar cleft. Patients and Methods ▼ Nine patients with cerebellar clefts were col- lected from several institutions through personal contacts. They were seen initially between November 2004 and October 2009. We reviewed the clinical data and analyzed the MRI examina- tions. The 9 patients include 5 males and 4 females, aged 3 months to 12.4 years (mean: 4 years; median: 2.2 years) at the latest follow-up. At the time of the diagnostic neuroimaging the mean age of the 9 patients was 3.9 years (median: 1.8 Introduction ▼ Due to the detailed information available from prenatal and postnatal MR imaging, cerebellar disruptions have received increasing attention in recent years [8, 18] Disruptions are defined as morphological defects of an organ, part of an organ, or a larger region of the body resulting from an extrinsic breakdown of, or an interfer- ence with, an originally normal developmental process. Reported cerebellar disruptions include cerebellar agenesis [18], vanishing cerebellum in myelomeningocele [7], some forms of global cer- ebellar hypoplasia [24], unilateral cerebellar hypoplasia [6, 19], and unilateral cerebellar cleft [17]. Recently we reported the first series of six patients with unilateral cerebellar cleft [17]. This condition represents a disruption, most likely residual, and reorganized changes following pre- natal cerebellar hemorrhage. Cerebellar clefts principally affect the cortical gray matter and extend from the hemisphere’s surface into the parenchyma, but do not involve the vermis. Malorientation of the cerebellar foliation, an Authors A. Poretti 1 , T. A. G. M. Huisman 2 , F. M. Cowan 3 , E. Del Giudice 4 , P. Y. Jeannet 5 , D. Prayer 6 , M. A. Rutherford 3 , A. J. du Plessis 7 , C. Limperopoulos 7,8 , E. Boltshauser 1 Affiliations Affiliation addresses are listed at the end of the article Abstract ▼ We recently described the neuroimaging and clinical findings in 6 children with cerebellar clefts and proposed that they result from disrup- tive changes following prenatal cerebellar hem- orrhage. We now report an additional series of 9 patients analyzing the clinical and neuroimaging findings. The clefts were located in the left cere- bellar hemisphere in 5 cases, in the right in 3, and bilaterally in one child who had bilateral cerebel- lar hemorrhages as a preterm infant at 30 weeks gestation. In one patient born at 24 weeks of gestation a unilateral cerebellar hemorrhage has been found at the age of 4 months. Other findings included disordered alignment of the folia and fissures, an irregular gray/white matter junction, and abnormal arborization of the white matter in all cases. Supratentorial abnormalities were found in 4 cases. All but 2 patients were born at term. We confirm the distinct neuroimaging pat- tern of cerebellar clefts. Considering the docu- mented fetal cerebellar hemorrhage in our first series, we postulate that cerebellar clefts usu- ally represent residual disruptive changes after a prenatal cerebellar hemorrhage. Exception- ally, as now documented in 2 patients, cerebel- lar clefts can be found after neonatal cerebellar hemorrhages in preterm infants. The short-term outcome in these children was variable.