Association between diffuse cerebral MRI lesions and the occurrence and intractableness of West syndrome in tuberous sclerosis complex

Epilepsy Behav. 2020 Feb;103(Pt A):106535. doi: 10.1016/j.yebeh.2019.106535. Epub 2019 Oct 20.

Abstract

Objective: We aimed to clarify the association between magnetic resonance imaging (MRI)-lesion patterns, including cortices and white matters, and the development, occurrence, and intractableness of West syndrome in patients with tuberous sclerosis complex (TSC), using visual analysis.

Methods: We collected data for 44 patients with TSC who had undergone brain MRI and developmental evaluation after the ages of 2 and 3 years, respectively. Fluid-attenuated inversion recovery (FLAIR) and T1-weighted images were used to analyze the number of cyst-like tubers, the number of cyst-like subcortical lesions, and the presence of diffuse lesions involving the cortices and white matter.

Results: Developmental delays were observed in 28 patients. Nineteen patients had a history of West syndrome. Cyst-like tubers (range: 1-10), cyst-like subcortical lesions (range: 1-4), and diffuse lesions (range: 1-6 areas) were observed in 15, 9, and 14 patients, respectively. In the univariate analyses, all MRI findings were associated with development and/or history of West syndrome. However, in the multivariate analyses, only the diffuse lesion was associated with severe development (p = 0.003) and history of West syndrome (p = 0.012). In the subanalysis of patients with West syndrome, the diffuse lesions were also associated with pharmacological intractableness. Patients with diffuse lesions had a history of West syndrome with sensitivity of 68% and specificity of 96%. Patients with two or more areas of diffuse lesions had history of pharmacologically intractable West syndrome with sensitivity of 89% and specificity of 91%.

Conclusions: Diffuse lesions may help to predict the poor neurological outcomes in patients with TSC.

Keywords: Development; Epilepsy; Magnetic resonance imaging; Outcome; Tuberous sclerosis complex; West syndrome.

MeSH terms

  • Adolescent
  • Cerebral Cortex / diagnostic imaging*
  • Cerebral Cortex / pathology
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging*
  • Male
  • Multivariate Analysis
  • Prognosis
  • Retrospective Studies
  • Sensitivity and Specificity
  • Severity of Illness Index
  • Spasms, Infantile / diagnosis
  • Spasms, Infantile / etiology*
  • Spasms, Infantile / therapy
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / diagnostic imaging
  • Tuberous Sclerosis / pathology
  • White Matter / diagnostic imaging*
  • White Matter / pathology
  • Young Adult