Megalencephalic leukoencephalopathy with subcortical cysts


Megalencephalic leukoencephalopathy with subcortical cysts is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies.

Genetics

It is associated with MLC1.

History

A series of cases with megalencephalic leukodystrophy were described by the Indian neurologist Bhim Sen Singhal in 1991. However, it is sometimes referred to as Van der Knaap disease after the Dutch neurologist Marjo van der Knaap who described another series of cases with clinical and radiological features in 1995.