MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS; VAN DER KNAAP AND NALBAND MLC GENE HOTSPOT MUTATION

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS (MLC) IS CHARACTERIZED BY MACROCEPHALY, DIFFUSE AND SWOLLEN CEREBRAL HEMISPHERIC WHITE MATTER, PROGRESSIVE MOTOR DYSFUNCTION, SPASTICITY, RECURRENT EPISODES OF ATAXIA OFTEN WITH OR WITHOUT MENTAL RETARDATION AND EPILEPTIC SEIZURES. ONSET OF THE MLC DISEASE MAY BE NEONATAL, CHILDHOOD OR VERY RARELY IN ADULTHOOD. VAN DER KNAAP DESCRIBED THE MLC1 PATHOGENIC VARIANT WHICH HAS BEEN IDENTIFIED IN INDIVIDUALS FROM JAPAN, FINLAND, TURKEY, ITALY AND INDIA. IN INDIA, MAJOR CASES HAVE BEEN REPORTED FROM BANSAL-AGARWAL COMMUNITY IN AGRA AND SOME CASES FROM NON-AGARWAL COMMUNITIES. ACCURATE CLINICAL DIAGNOSIS IN MOST CASES ARE DIFFICULT DUE TO OVERLAPPING CLINICAL MANIFESTATIONS WITH OTHER LEUKODYSTROPHIES. THE ACCURATE DIAGNOSIS OF THE TYPE OF LEUKODYSTROPHY IS PIVOTAL FOR THE CLINICAL MANAGEMENT OF THE DISEASE.