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Cortical venous disease severity in MELAS syndrome correlates with brain lesion development
M T Whitehead1,2, M Wien3,4, B Lee5
1Department of Neuroradiology, Department of Radiology, Children's National Medical Center, 111 Michigan Ave. NW, Washington, DC, 20010, USA. MWhitehe@childrensnational.org.
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.
Insights
Abnormal venous signal in MELAS syndrome correlates with brain lesion severity. This finding suggests cortical venous pathology may contribute to brain injury and aid in diagnosis.
Area of Science:
- Neurology
- Radiology
- Mitochondrial Diseases
Background:
- MELAS syndrome is a mitochondrial disorder characterized by stroke-like episodes, seizures, and progressive brain injury.
- Abnormal mitochondria in arterial walls suggest a vasculogenic cause for MELAS.
- Cortical vein abnormalities on MRI may indicate wall thickening or sluggish flow.
Purpose of the Study:
- To investigate the relationship between hyperintense cortical veins and brain lesions in patients with MELAS syndrome.
- To determine if abnormal venous signals correlate with the presence and severity of brain lesions in MELAS.
Main Methods:
- Retrospective review of brain MRIs from MELAS patients and age-matched controls.
- Exclusion criteria included artifacts, sedation, and lack of specific MRI sequences.
- A venous score was assigned based on the number of T2/FLAIR hyperintense veins; scores were compared between groups.
Main Results:
- MELAS patients showed significantly higher venous scores compared to controls (median 3 vs. 1, p < 0.001).
- Higher venous scores correlated with the presence of cumulative brain lesions in MELAS patients.
- Venous hyperintensity preceded, accompanied, and followed lesion onset in all affected MELAS patients.
Conclusions:
- Abnormal venous signal is associated with cumulative brain lesion severity in MELAS syndrome.
- Cortical venous pathology, including stenosis and congestion, may be a mechanism of brain injury in MELAS.
- Identifying cortical venous abnormalities could aid MELAS diagnosis and predict lesion development.
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