Megalencephalic leukoencephalopathy with subcortical cysts: MRI and proton spectroscopic features

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, recently described disease.1 This disorder, reported predominantly in infants and children, was originally described by van der Knaap as 'leukoencephalopathy with swelling and a discrepantly mild clinical course'. The gene locus for this autosomal recessive disease has been assigned to chromosome 22qtel, and a gene has been identified, presently called MLC1.2,3 It is characterized clinically by a large head and mild neurological symptoms such as ataxia, spasticity and remarkably slow course of functional deterioration. The MRI features described include 'swollen white matter' with large symmetrical cystic changes in the cerebral hemispheres.1,2,4 The MRS findings in this disorder include mild to moderate decreases in the NAA to choline and choline to creatine ratios.5 We report a child with this disease and discuss the MRI and MRS features