Megalencephalic leukoencephalopathy with subcortical cysts (MLC) or Van der Knapp disease is a rare entity that has recently been identified. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. The culprit MLC1 gene is located on chromosome 22. MRI provides valuable data for diagnosis characterized by diffuse white matter lesions with subcortical cysts. Thepurposeofourstudywas todeterminethe value ofMultimodal brain MRI features in this disease.

A total of 6 patients, from two different families, (3 male/ 3 female; mean age 4.5 years, range: 2-9 years) with Van der Knapp disease were included in this study. Brain MRI was performed in all cases.

Clinical features The clinical features in all patients consist of macrocephaly occurring commonly, in the first year of life with a delayed onset of relatively mild neurologic abnormalities, consisting of cerebellar ataxia, pyramidal tract signs and seizures. Cognitive deterioration becomes apparent over the years, but communication and social skills remain relatively unaffected. All patients were born at term without a significant antenatal and prenatal history. Their parents were consanguineous and they had no specific family history. Cytogenetic study The cytogenetic study in a brother and...

CONCLUSION MLC or Van der Knapp disease is a rare entity that has recently been identified. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. The culprit MLC1 gene is located on chromosome 22. MRI provides valuable data for diagnosis characterized by diffuse white matter lesions with subcortical cysts. In typical cases, MRI findings are sufficient for the diagnosis of MLC.

REFERENCES 1. Van der Knaap MS, Boor I, Estévez R. Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. Lancet Neurol 2012; 11:973-85. 2.Brockmann K,Finsterbusch J,Terwey B,Frahm J,Hanefeld F. Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI. Neuroradiology 2003; 45: 137-42. 3.Saijo H,Nakayama H,Ezoe T,Araki K,Sone S,Hamaguchi H,and al. A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. Brain Dev 2003;...