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Megalencephalic leukoencephalopathy with subcortical cysts: MRI and proton spectroscopic features
H S Chandrashekar1, A S Guruprasad, P N Jayakumar
1Department of Neuroimaging, National Institute of Mental Health and Neuro Sciences, Bangalore-560029, India.
Abstract:
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, recently described disease. It is characterized clinically by a large head, mild neurological symptoms and a remarkably slow course of functional deterioration. The MRI is characterized by 'swollen white matter' and large symmetrical cystic changes in the cerebral hemispheres. MLC should be considered in the differential diagnosis of children with megalencephaly and leukoencephalopathy. We report a child with this disease and discuss the MRI and MRS features.
Insights
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare neurological disorder. This report details a child
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder.
- Characterized by megalencephaly, mild neurological deficits, and slow functional decline.
- Distinctive MRI findings include "swollen white matter" and symmetrical subcortical cysts.
Observation:
- Presents a case study of a child diagnosed with MLC.
- Highlights the clinical presentation of megalencephaly and neurological symptoms.
- Focuses on the characteristic neuroimaging findings.
Findings:
- Detailed discussion of Magnetic Resonance Imaging (MRI) features.
- Analysis of Magnetic Resonance Spectroscopy (MRS) findings in the affected child.
- Correlates imaging findings with the clinical phenotype of MLC.
Implications:
- Emphasizes the importance of considering MLC in the differential diagnosis of pediatric megalencephaly and leukoencephalopathy.
- Contributes to understanding the neuroimaging spectrum of MLC.
- Suggests the utility of MRI and MRS in diagnosing and characterizing MLC.
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