Faculty Collaboration Database

Cortical venous disease severity in MELAS syndrome correlates with brain lesion development. Neuroradiology 2017 Aug;59(8):813-818

Date

07/02/2017

Pubmed ID

28667360

DOI

10.1007/s00234-017-1866-3

Scopus ID

2-s2.0-85021774766 (requires institutional sign-in at Scopus site)   10 Citations

Abstract

PURPOSE: MELAS syndrome is a mitochondrial disorder typified by recurrent stroke-like episodes, seizures, and progressive brain injury. Abnormal mitochondria have been found in arterial walls implicating a vasculogenic etiology. We have observed abnormal cortical vein T2/FLAIR signal in MELAS patients, potentially representing wall thickening and sluggish flow. We sought to examine the relationship of hyperintense veins and brain lesions in MELAS.

METHODS: Imaging databases at two children's hospitals were searched for brain MRIs from MELAS patients. Artifact, sedated exams, and lack of 2D-T2/FLAIR sequences were exclusion criteria. Each exam was assigned a venous score based on number of T2/FLAIR hyperintense veins: 1 = <10, 2 = 10 to 20, 3 = >20. Cumulative brain lesions and venous score in MELAS and aged-matched normal exams were compared by Mann-Whitney test.

RESULTS: A total of 106 exams from 14 unique MELAS patients (mean 16 ± 3 years) and 30 exams from normal aged-matched patients (mean 15 ± 3 years) were evaluated. Median venous score between MELAS and control patients significantly differed (3 versus 1; p < 0.001). In the MELAS group, venous score correlated with presence (median = 3) or absence (median = 1) of cumulative brain lesions. In all 8 MELAS patients who developed lesions, venous hyperintensity was present prior to, during, and after lesion onset. Venous score did not correlate with brain lesion acuity.

CONCLUSION: Abnormal venous signal correlates with cumulative brain lesion severity in MELAS syndrome. Cortical venous stenosis, congestion, and venous ischemia may be mechanisms of brain injury. Identification of cortical venous pathology may aid in diagnosis and could be predictive of lesion development.

Author List

Whitehead MT, Wien M, Lee B, Bass N, Gropman A

Author

Nancy Bass MD Professor in the Neurology department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adolescent
Brain
Child
Female
Humans
MELAS Syndrome
Magnetic Resonance Imaging
Male
Severity of Illness Index
Veins
Young Adult