MEGALENCEPHALIC LEUKOENCEPHALOPATHY - A FURTHER CASE OF A NEW NEURODEGENERATIVE WHITE-MATTER DISEASE

The case is presented of a 4.5-year-old boy with cystic megalencephali c leukoencephalopathy who met the diagnostic criteria of a recently de scribed neurodegenerative white matter disorder, i.e. leukoencephalopa thy with swelling and a discrepantly mild clinical course (van der Kna ap 1995). He demonstrated an extremely mild and slowly progressive cli nical course with near normal psychomotor development, particularly of mental functions, which contrasted with somewhat disturbed gross and fine motor skills, Repeated CT and MRI scanning showed extensive hemis pheral cerebral white matter changes and demonstrated predominant fron tal involvement of the periventricular and subcortical white matter. M RI was more sensitive in the detection of preserved structures, i.e. o ccipital subcortical and central white matter, as well as in the visua lization of swelling and cystic lesions in the tip of the temporal lob es, which represent the hallmark of this entity, Thus, MRI is an essen tial diagnostic tool for this entity.