ABSTRACT

Megalencephalic leukoencephalopathy with subcortical cysts, also known as van der Knaap disease, is a rare autosomal recessive disease. The disease develops as a consequence of mutations in the genes MLC1 and MLC2. A three years and nine months old male patient was operated for right inguinal hernia. Physical examination revealed macrocephalia, ataxia and mental retardation. Magnetic resonance imaging of the brain demonstrated megalencephalic leukoencephalopathy and subcortical cysts. These findings were consistent with the diagnosis of van der Knaap disease. The patient was born to consanguineous parents. Two siblings of the patient (brother aged 23 years and sister aged 19 years), who showed similar neurological features, underwent genetic investigation and MLC1 gene mutation was detected. The presenceof this rare disease was quite interesting. These cases point out that genetic counseling is of importance in our country where consanguineous marriage is common.