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Linear cortical cystic lesions: Characteristic MR findings in MELAS patients
Hidetoshi Ishigaki1, Noriko Sato2, Yukio Kimura2
1Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
Background:
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a progressive neurodegenerative disorder with stroke-like lesions. The common MRI findings are gyral swelling and high signal intensity on T2WI/FLAIR images crossing the vascular territories. We have observed a linear cystic lesion and a laminar necrosis in the affected cortices of MELAS patients. Herein, we evaluated these cortical MRI findings in each subtype of mitochondrial disease.
Patients And Methods:
We retrospectively reviewed the MRI findings of 71 consecutive patients with clinically and genetically confirmed mitochondrial diseases. The cortical cystic lesions and laminar necrotic lesions were evaluated on T1, T2, and FLAIR images in each subtype of mitochondrial disease, as were their clinical and other imaging characteristics.
Results:
The cortical cystic lesion was observed in 21 of the 71 patients (29.6%) with mitochondrial diseases. Laminar necrosis was detected in only three patients (4.2%). MELAS was the most frequent subtype with cortical cystic lesions, accounting for 81.0%, and all showed the linear pattern except for one patient whose pattern was beaded-like.
Conclusion:
A cortical linear cystic lesion was a common MRI finding in our series of patients with mitochondrial disease, especially in those with MELAS, but laminar necrosis was not. These findings can help differentiate MELAS from infarction.
Insights
A linear cystic lesion on MRI is common in mitochondrial diseases, particularly MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes). This finding helps distinguish MELAS from stroke-related lesions.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a progressive neurodegenerative disorder.
- Common MRI findings include gyral swelling and high signal intensity, often crossing vascular territories.
- Unique cortical MRI findings like linear cystic lesions and laminar necrosis were observed in MELAS patients.
Purpose of the Study:
- To evaluate cortical MRI findings, specifically linear cystic lesions and laminar necrosis, in various subtypes of mitochondrial disease.
- To determine the prevalence and pattern of these lesions across different mitochondrial disease classifications.
- To assess the diagnostic utility of these MRI findings in differentiating MELAS from other conditions.
Main Methods:
- Retrospective review of MRI scans from 71 patients with confirmed mitochondrial diseases.
- Evaluation of T1, T2, and FLAIR images for cortical cystic and laminar necrotic lesions.
- Correlation of imaging findings with clinical data and specific mitochondrial disease subtypes.
Main Results:
- Cortical cystic lesions were present in 29.6% of patients; laminar necrosis was rare (4.2%).
- MELAS was the most common subtype exhibiting cortical cystic lesions (81.0%).
- The majority of MELAS patients showed a linear pattern of cystic lesions, with one exhibiting a beaded pattern.
Conclusions:
- Cortical linear cystic lesions are a frequent MRI finding in mitochondrial diseases, especially MELAS.
- Laminar necrosis is uncommon in these patients.
- These specific MRI features can aid in distinguishing MELAS from cerebrovascular infarction.
