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Infantile-onset leukoencephalopathy with discrepant mild clinical course
1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.
Insights
This study describes a rare infantile leukoencephalopathy characterized by megalencephaly and white matter abnormalities. Autosomal recessive inheritance is suspected due to consanguinity and affected siblings.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Describes a rare infantile-onset neurological disorder.
- Characterized by megalencephaly and cerebral leukoencephalopathy.
Observation:
- Four unrelated children presented with infantile-onset megalencephaly and leukoencephalopathy.
- Clinical course shows macrocephaly stabilization and slow deterioration.
- Neuroimaging reveals diffuse white matter abnormalities and swelling on CT, with subcortical cysts on MRI.
Findings:
- The underlying genetic defect remains unknown.
- High consanguinity rates and affected siblings suggest autosomal recessive inheritance.
- Discrepancy noted between imaging severity and clinical presentation.
Implications:
- Highlights a distinct leukoencephalopathy entity requiring further investigation.
- Suggests potential genetic counseling considerations for affected families.
- Emphasizes the importance of advanced neuroimaging in diagnosing rare pediatric neurological disorders.
Abstract:
Four children characterised by megalencephaly and cerebral leukoencephalopathy with infantile onset, defined on the basis of clinical and neuroimaging findings are reported. The course of the disease is characterised by stabilization of the macrocephaly and slow clinical deterioration. The CT scan findings include supratentorial diffuse hypodensities in the white matter and swelling. The characteristic MRI findings include the discrepant severity in comparison with the clinical picture, diffuse supratentorial white matter abnormalities with subcortical cysts. The basic defect of the disease is unknown. Considering the high rate of consanguinity among the parents and the presence of two affected sibs in one family, an autosomal recessive inheritance is assumed. We report four unrelated cases of this entity.