Clinical features and diagnosis of leukodystrophies

Objective: to determine the frequency,and presentation of leukodystrophies in children presenting in a tertiary care hospital,southern region,saudi arabia. study design: retrospective record review study place and duration: department of pediatrics,at king fahad armed forces hospital,southern region from january 2012 to december 2016. methodology: the medical records of the children diagnosed with leukodystrophy admitted in the pediatric ward or examined in pediatric neurology clinic during the period from january 2012 to december 2016 were retrospectively reviewed. all data was collected on predesigned proforma. related clinical data and mri brain results were reviewed. results: thirty-three cases were diagnosed with leukodystrophy over four years period from january 2012 to december 2016. there were 25 males (75.75%) and 8 females (24.25%). among them 14 cases were of metachromatic leukodystrophy (mld),six cases x-linked adrenoleukodystrophy,three cases vaculating megalencephalic leukoencephalopathy (van der knaap disease),two cases of krabbe,alexander,pelizaeus merzbacher and canavan leukodystrophy each. conclusion: leukodystrophies are white matter pathologies that are inherited genetically. in children,this is an important cause of progressive neurological disorders. to reach a diagnosis investigations depend upon clinical features and mri findings,and another laboratory testing. © 2017,pakistan pediatric journal. all rights reserved.