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megalencephalic leukoencephalopathy with subcortical cysts
Pathology:
- cerebral leukoencephalopathy & megalencephaly
Genetics:
1) autosomal recessive
2) associated with defects in MLC1 gene
Clinical manifestations:
1) macrocephaly
2) deterioration of motor functions with ataxia
3) spasticity
4) mental decline
Laboratory:
- MLC1 gene mutation
Radiology:
- MRI: brain appears swollen, with diffuse white-matter abnormalities & invariably subcortical cysts in frontal lobe & temporal lobe
General
leukoencephalopathy
Database Correlations
OMIM 604004
References
OMIM :accession 604004