Posterior fossa malformations and sex chromosomes anomalies. Report of a case with XYY syndrome and overview of known associations.

UNLABELLED: Sex chromosome anomalies have been previously associated with several brain malformations including posterior fossa anomalies, such as cerebellar dysplasia or hypoplasia, cerebellar cysts, vermis dysgenesis or hypoplasia, and mega cistern magna. XYY syndrome is a sex chromosome aneuploidy characterized by an extra copy of the Y chromosome. Although it has been proposed that the presence of such extra chromosome may have an adverse effect on brain development, to date few reports on brain abnormalities in patients with XYY syndrome have been published. In a male child with 47, XYY karyotype we describe a particular brain malformation which consisted of enlarged posterior fossa and hypoplasia of posterior and inferior regions of left cerebellar hemisphere and vermis. In addition we revised other sex chromosome anomalies which have been previously associated with posterior fossa malformations in humans. CONCLUSION: Our finding suggests that having an extra Y chromosome may affect brain development. Brain radiological imaging in patients with XYY syndrome would be useful to determine whether such brain abnormalities are an incidental finding or part of the spectrum of XYY syndrome. A deeper investigation of the extra chromosome effects may help to better comprehend the pathophysiology of functional disorders in affected individuals.

Rehabilitation for children after acquired brain injury: current and emerging approaches.

Evidence is emerging of diverse, chronic, cumulative disabilities experienced by children in the months and years after acquired brain injury. The long-held assumption that younger children recover better from brain injury than older children or adults has been challenged by recent studies. Populations with acquired brain injury include children with traumatic brain injury and stroke, and a proportion of children with cerebral palsy. Although characteristics of brain injury in children vary, subgroups of this population offer the potential to inform our understanding of developing brain structure-function relationships in response to intervention. Limited evidence and few controlled rehabilitation trials exist regarding children with neurologic conditions. A number of rehabilitation approaches produced benefits in adult stroke, and cerebral palsy populations may be applied to children with other acquired brain injuries. Rehabilitation approaches that have been applied to children with acquired brain injuries, or hold promise for future applications, are reviewed.