Children with cerebral palsy and normal brain magnetic resonance imaging

Children with cerebral palsy and normal brain magnetic resonance imaging
1 Developmental Medicine, Royal Children’s Hospital, Melbourne, VIC;
2 Genetic Health Services Victoria, Murdoch Children’s Research Institute, Melbourne, VIC;
3 Developmental Disability Research, Murdoch Children’s Research Institute, Melbourne, VIC;
4 Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia

Background/Objectives: Although the majority of children with cerebral palsy (CP) have brain abnormalities on magnetic resonance imaging (MRI), an estimated 11-16% has normal scans. In these children, further testing should be considered. Metabolic and genetic conditions can present as CP, and early diagnosis may permit treatment, and provide the family with prognostic and genetic information. The aims of our study were to (1) identify a group of children with normal MRIs in a 7-year population-based cohort of children with congenital CP, (2) describe their clinical features and review their investigations and (3) undertake a clinical review and further testing where indicated.
Design: Population-based.
Participants and Setting: Participants were selected from the Victorian Cerebral Palsy Register. All children with congenital CP born between 1999 and 2005 were included. The study was undertaken at the two tertiary paediatric hospitals in Melbourne, Australia.
Materials/Methods: Children with available MRIs were selected. Normal scans were identified from clinical reports and were reassessed by an experienced radiologist to ensure the accuracy of the initial report. Children whose scans were performed before 18 months were excluded, as were children with spastic CP, GMFCS level 1. Clinical review was undertaken on the remaining with spastic CP, GMFCS level 1. Clinical review was undertaken on the remaining children who were offered a comprehensive battery of investigations (unless previously undertaken) that had been compiled by a metabolic physician, genetic neurologist and developmental disability physician.
Results: Of 730 children, 515 (71%) had an MRI available for review. Children with more severe motor impairment and those born after 31 weeks’ gestation were more likely to have had scans. A normal MRI finding was confirmed in 54/515 children, 39 of whom had their most recent scan after 18 months. In this group, a normal scan was found more frequently in children with a non-spastic motor type or less severe impairment. Sixteen children had spastic CP GMFCS 1 and were not followed up further. Twenty-three children (17 males; mean age 6 years, 11 months) were reviewed clinically. They were clinically heterogeneous: 14 had spasticity, 3dyskinesia, 3ataxia and 3hypotonia. One had a known genetic disorder. Of the group with spasticity, half presented as typical CP, while the other half had unusual features. Positive results included one raised blood neopterin and two elevated blood prolactins, the latter suggesting dopamine depletion. Two children were dopa-responsive.
Conclusions/Significance: Children with normal brain scans are clinically diverse. Some have features which could point to an alternative diagnosis. This study raises questions about the diagnosis of cerebral palsy and how far children should be investigated.

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