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Magnetic resonance imaging with fluid-attenuated inversion recovery pulse sequences in MELAS syndrome
M Kimura1, Y Hasegawa, K Yasuda
1Department of Pediatrics, Shimane Medical University, 89-1 Enya, Izumo, Shimane 693, Japan.
Abstract:
We report the brain magnetic resonance imaging findings in the case of a 5-year-old boy with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Fluid-attenuation inversion recovery (FLAIR) imaging revealed multifocal abnormal cortical signals which were difficult to see on conventional T1- and T2-weighted images. Although the patient was in an advanced clinical stage of disease and had severe cortical atrophy, FLAIR imaging demonstrated characteristic findings of MELAS.
Insights
Fluid-attenuation inversion recovery (FLAIR) MRI reveals characteristic brain signals in children with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). This advanced imaging technique aids diagnosis even in severe cases.
Area of Science:
- Neurology
- Pediatric Neurology
- Neuroimaging
Background:
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disease.
- Diagnosis often relies on characteristic clinical and neuroimaging findings.
- Pediatric MELAS presents unique diagnostic challenges.
Observation:
- A 5-year-old boy with advanced MELAS and severe cortical atrophy was studied.
- Conventional T1- and T2-weighted MRI sequences showed subtle abnormalities.
- Fluid-attenuation inversion recovery (FLAIR) MRI highlighted multifocal abnormal cortical signals.
Findings:
- FLAIR imaging demonstrated distinct cortical signal abnormalities characteristic of MELAS.
- These findings were more conspicuous on FLAIR than conventional MRI sequences.
- FLAIR MRI proved valuable in identifying MELAS-related brain changes.
Implications:
- FLAIR MRI may improve the early detection and diagnosis of MELAS in pediatric patients.
- Advanced neuroimaging techniques like FLAIR are crucial for understanding MELAS pathophysiology.
- This case highlights the utility of FLAIR in diagnosing MELAS, even with significant disease progression.