What is Megalencephalic Leukoencephalopathy With Subcortical Cysts

Megalencephalic Leukoencephalopathy With Subcortical Cysts (MLC) is a rare genetic disorder that affects the brain and nervous system. It is characterized by the presence of large brain size (megalencephaly) and the formation of fluid-filled cysts in the subcortical regions of the brain.

MLC typically manifests in early childhood and its symptoms may vary in severity. Common signs include delayed development, difficulty with coordination and balance, muscle stiffness, and seizures. Some individuals may also experience cognitive impairment, speech difficulties, and behavioral changes.

This condition is caused by mutations in the MLC1 or GLIALCAM genes, which are involved in the formation and maintenance of myelin, the protective covering of nerve fibers. The loss of myelin leads to impaired communication between nerve cells, resulting in the characteristic features of MLC.

While there is currently no cure for MLC, treatment focuses on managing symptoms and improving quality of life. This may involve physical therapy to address motor difficulties, antiepileptic medications to control seizures, and supportive care to address individual needs.

Research efforts are ongoing to better understand the underlying mechanisms of MLC and develop potential therapies. Genetic counseling is recommended for families affected by MLC to understand the inheritance pattern and make informed decisions.