Cerebellar lesions in tuberous sclerosis complex: neurobehavioral and neuroimaging correlates

J Child Neurol. 2006 Oct;21(10):846-51. doi: 10.1177/08830738060210100301.

Abstract

We assessed the structural and functional imaging features of cerebellar lesions and their neurobehavioral correlates in a large cohort of patients with tuberous sclerosis complex. A consecutive series of 78 patients with tuberous sclerosis complex underwent magnetic resonance imaging (MRI) and positron emission tomography (PET) studies with [(18)F]fluorodeoxyglucose (FDG) and alpha-[(11)C]methyl-l-tryptophan (AMT) as part of their evaluation for epilepsy surgery. Neurobehavioral assessment included the Gilliam Autism Rating Scales (GARS) and the Vineland Adaptive Behavior Scales (VABS). Twenty-one patients (27%) had cerebellar lesions (10 boys; mean age 9 +/- 8 years; 9 had right-sided, 10 had left-sided, and 2 had bilateral cerebellar lesions). The lesions showed decreased glucose metabolism (0.79 +/- 0.10) and increased (1.04 +/- 0.10) AMT uptake compared with the normal (nonlesional) cerebellar cortex. Comparisons between patients with (n = 20) and without (n = 57) a cerebellar lesion on neurobehavioral functioning, controlling for the number and location of cortical tubers, revealed that the cerebellar lesion group had higher overall autistic symptomatology. Within-group analyses of the cerebellar lesion group revealed that children with right-sided cerebellar lesions had higher social isolation and communicative and developmental disturbance compared with children with left-sided cerebellar lesions. The side of the cerebellar lesion was not related to adaptive behavior functioning. These findings provide additional empiric support for a role of the cerebellum in autistic symptomatology. Further investigation of the potential role of the right cerebellum in autism, particularly with regard to the dentatothalamofrontal circuit, is warranted.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Brain Mapping
  • Cerebellum / diagnostic imaging
  • Cerebellum / pathology*
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Fluorodeoxyglucose F18 / pharmacokinetics
  • Functional Laterality
  • Humans
  • Image Processing, Computer-Assisted / methods
  • Infant
  • Magnetic Resonance Imaging / methods
  • Male
  • Mental Processes / physiology*
  • Neuropsychological Tests
  • Positron-Emission Tomography / methods
  • Triazoles / pharmacokinetics
  • Tuberous Sclerosis / diagnostic imaging
  • Tuberous Sclerosis / pathology*
  • Tuberous Sclerosis / physiopathology*

Substances

  • 3-amino-5-mercapto-1,2,4-triazole
  • Triazoles
  • Fluorodeoxyglucose F18