The burden of inherited leukodystrophies in children

• DOI: 10.1212/wnl.0b013e3181eee46b
• Publication Date: 2010-07-22T03:18:11Z
• Authors: J.L. Bonkowsky; C. Nelson; J.L. Kingston; F.M. Filloux; M.B. Mundorff; R. Srivastava
• Keywords: Medical record

<b>Objectives:</b> Leukodystrophies are diseases of the white matter for which data concerning clinical characteristics, incidence, disease burden, and description outcomes sparse. The purpose our study was to determine incidence most common types inherited leukodystrophies in a population, mortality time course deaths, neurologic features patients, health care costs associated with leukodystrophies. <b>Methods:</b> We conducted retrospective, hospital- clinic-based surveillance among children younger than 18 years presenting regional children9s hospital. enrolled evaluated from January 1, 1999, through December 31, 2007; information obtained medical records. calculated based on state birth rates. <b>Results:</b> A total 122 an leukodystrophy were identified; 542 patients excluded. 49% had epilepsy, 43% required gastrostomy tube, 32% history developmental regression. Mortality 34%; average age at death 8.2 years. No final diagnosis reported 51% patients. diagnoses metachromatic (8.2%), Pelizaeus-Merzbacher (7.4%), mitochondrial (4.9%), adrenoleukodystrophy (4.1%). Endocrine abnormalities hypoplastic cerebellum noted significant portions (15% 14%). Average yearly per-patient $22,579. Population 1 7,663 live births. <b>Conclusions:</b> Inherited substantial morbidity children. Overall population is higher generally appreciated (1 births). Most remain undiagnosed, but logical algorithm prevalence could aid testing.