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Ultrasonography and magnetic resonance imaging in Leigh disease
1Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
Insights
Ultrasonography can detect early brain lesions in infants with Leigh disease before symptoms appear. This imaging technique identified characteristic hyperechoic lesions in affected siblings, aiding in preclinical diagnosis.
Area of Science:
- Pediatric Neurology
- Neuroimaging
- Metabolic Disorders
Background:
- Leigh disease is a severe, progressive neurodegenerative disorder affecting infants.
- Early diagnosis is crucial for potential intervention, but often challenging due to subtle initial symptoms.
Observation:
- Hyperechoic lesions in the putamen and caudate nucleus were observed via ultrasonography during the preclinical stage of Leigh disease.
- These lesions extended to the cerebral cortex and medulla at disease onset.
- T2-weighted magnetic resonance imaging (MRI) confirmed these lesions as areas of increased signal intensity.
Findings:
- Ultrasonography revealed preclinical intracranial lesions in an infant with Leigh disease.
- Similar ultrasonographic findings were noted in her affected brother.
- Cranial computed tomography (CT) corroborated the ultrasonographic detection of basal ganglia lesions.
Implications:
- Ultrasonography shows promise as a valuable tool for early detection of Leigh disease intracranial lesions.
- Preclinical identification of lesions may facilitate timely therapeutic strategies.
- This non-invasive imaging modality could improve diagnostic capabilities for Leigh disease.
Abstract:
An infant with Leigh disease, who was the younger sister of a similarly affected infant, had been examined before the onset of the disease. Ultrasonography revealed hyperechoic lesions in the putamen and caudate nucleus during the preclinical stage. At onset, these changes extended into the cerebral cortex and medulla. These lesions were also detected by T2-weighted magnetic resonance imaging (MRI) as areas of increased signal intensity. Her brother demonstrated the same ultrasonographic results; cranial computed tomography disclosed low-density areas in the basal ganglia which were detected as hyperechoic lesions by ultrasonography. These findings suggest that ultrasonography is useful in detecting early intracranial lesions in Leigh disease.