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Infantile-onset megalencephalic leucoencephalopathy in two siblings
1Department of Pediatrics, Turgut Ozal Medical Center, Inönü University, Malatya, Turkey. hasoylu@hotmail.com
Abstract:
Infantile-onset megalencephalic leucoencephalopathy (IML) is a recently recognized autosomal recessive white matter disorder. Unlike other megalencephalic leucoencephalopathies, in patients with IML a mild clinical course, a slowly progressive delay in motor development and mild mental deterioration are typical. We report on two affected siblings who have typical clinical and radiological findings of IML. Cranial magnetic resonance imaging showed involvement of the capsula externa, extrema and interna, nucleus dentatus, crus cerebri, periventricular and subcortical white matter. In addition, bilateral cystic changes were determined predominantly in the temporal lobes. There were no clear biochemical or metabolic disturbances. In the present paper, we discuss the clinical and neuroimaging findings of IML.
Insights
Infantile-onset megalencephalic leucoencephalopathy (IML) is a rare white matter disorder. This study details two siblings with IML, highlighting their mild symptoms and distinct MRI findings.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Infantile-onset megalencephalic leucoencephalopathy (IML) is an autosomal recessive white matter disorder.
- IML presents with a milder clinical course compared to other megalencephalic leucoencephalopathies, characterized by slow motor development and mild cognitive decline.
Observation:
- This report focuses on two siblings exhibiting typical clinical and radiological features of IML.
- Neuroimaging revealed characteristic white matter abnormalities, including involvement of the capsula externa, extrema, and interna, dentate nucleus, crus cerebri, and periventricular/subcortical regions.
Findings:
- Distinctive bilateral cystic changes were observed, primarily in the temporal lobes.
- No significant biochemical or metabolic disturbances were identified in the affected individuals.
Implications:
- This case study contributes to the understanding of IML's clinical and neuroimaging spectrum.
- Further research into IML pathogenesis and potential therapeutic targets is warranted based on these findings.