An adult case of megalencephalic leukoencephalopathy with subcortical cysts with S93L mutation in MLC1 gene: a case report and diffusion MRI.

Case Report A 34-year-old man was admitted to our hospital after a convulsive attack, which had previously occurred only once a few years after his infancy. He was the second child of consanguineous healthy parents. His elder sister was free of neurological problems. Abnormal enlargement of his head developed from the age of 1 year till Dear Sir, Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by clinical features including macrocephaly developed within the first year of life, slow deterioration of motor skills due to increasing ataxia and spasticity, mild cognitive impairment and mild clinical course [1–6] . Magnetic resonance imaging (MRI) findings of this disease are well known including diffuse T 2 hyperintensity in cerebral white matter and subcortical cysts in the temporal and parietal regions early in its course. However, descriptions of MRI features including difthe age of 3 years. Mild delay in mental and motor development was noted at 2 years of age. A diagnosis of hydrocephalus of unknown cause was made at that time without intensive neuroradiological examination. He had mild mental retardation and spastic gait disturbance; these symptoms remained stable over his teens and were thought to be sequelae of hydrocephalus in his infancy. His medical checks and treatment for epilepsy were discontinued at 20 years. He has worked as a full-time factory worker since the age of 20 years.