A Very Rare Case of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous
Harneet S Randhawa1, Jasneet Randhawa2, Anagha Kulkarni3
1Department of Radiology, Government Medical College Baramati, Pune, IND.
Abstract:
Megalencephalic leukoencephalopathy (MLC) with subcortical cysts is a very rare white matter disorder characterized predominantly by motor developmental delay and seizures in a child with macrocephaly. Extrapyramidal symptoms, ataxia and mental retardation may also occur. Only a few cases of the disease have been reported worldwide with most of them showing an autosomal recessive pattern of inheritance. In India, most cases have been reported in Agrawal community. Here, we present an interesting case of MLC in a child born in non-Agrawal community to a non-consanguineous marriage. By reporting this case we intend to increase the research horizon and increase the published literature for atypical cases of MLC.
Insights
Megalencephalic leukoencephalopathy (MLC) with subcortical cysts, a rare white matter disorder, presents motor delays and seizures. This case highlights atypical presentation in a non-Agrawal family, expanding understanding of this rare genetic condition.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Megalencephalic leukoencephalopathy (MLC) with subcortical cysts is a rare autosomal recessive white matter disorder.
- It is characterized by macrocephaly, motor developmental delay, and seizures.
- Most reported cases globally and in India are from the Agrawal community.
Observation:
- A case of MLC with subcortical cysts is presented in a child from a non-Agrawal community.
- The parents were in a non-consanguineous marriage.
- This presentation is atypical compared to previously reported cases.
Findings:
- The case expands the known phenotypic and genotypic spectrum of Megalencephalic leukoencephalopathy with subcortical cysts.
- It demonstrates that MLC can occur in non-Agrawal populations and non-consanguineous families.
- This finding challenges the previously observed pattern of inheritance and community association.
Implications:
- Reporting atypical cases like this is crucial for broadening the research horizon.
- Increased published literature on diverse presentations aids in better diagnosis and understanding of rare diseases.
- This case underscores the importance of considering rare genetic disorders even in atypical demographic contexts.
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