The burden of inherited leukodystrophies in children
- 24 August 2010
- journal article
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 75 (8), 718-725
- https://doi.org/10.1212/wnl.0b013e3181eee46b
Abstract
Leukodystrophies are diseases of the white matter for which data concerning clinical characteristics, incidence, disease burden, and description of outcomes are sparse. The purpose of our study was to determine the incidence and most common types of inherited leukodystrophies in a population, the mortality and time course of deaths, common neurologic features in patients, and health care costs associated with leukodystrophies. We conducted a retrospective, hospital- and clinic-based surveillance of inherited leukodystrophies among children younger than 18 years presenting to a regional children's hospital. We enrolled children evaluated from January 1, 1999, through December 31, 2007; clinical information was obtained from medical records. We calculated incidence based on state birth rates. A total of 122 children with an inherited leukodystrophy were identified; 542 patients were excluded. A total of 49% had epilepsy, 43% required a gastrostomy tube, and 32% had a history of developmental regression. Mortality was 34%; average age at death was 8.2 years. No final diagnosis was reported in 51% of patients. The most common diagnoses were metachromatic leukodystrophy (8.2%), Pelizaeus-Merzbacher disease (7.4%), mitochondrial diseases (4.9%), and adrenoleukodystrophy (4.1%). Endocrine abnormalities and hypoplastic cerebellum were noted in significant portions of patients (15% and 14%). Average yearly per-patient medical costs were $22,579. Population incidence was 1 in 7,663 live births. Inherited leukodystrophies are associated with substantial morbidity and mortality in children. Overall population incidence is higher than generally appreciated (1 in 7,663 live births). Most leukodystrophies remain undiagnosed, but a logical algorithm based on prevalence could aid testing.This publication has 30 references indexed in Scilit:
- Whole-Genome Sequencing Reveals Mutations for Charcot-Marie-Tooth NeuropathyNeurology Today, 2010
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome SequencingScience, 2010
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth NeuropathyThe New England Journal of Medicine, 2010
- Transplant Outcomes in LeukodystrophiesSeminars in Hematology, 2010
- Invited Article: An MRI-based approach to the diagnosis of white matter disordersNeurology, 2009
- Pelizaeus–Merzbacher–Like disease presentation of MCT8 mutated male subjectsAnnals of Neurology, 2009
- Metachromatic leukodystrophy: an overview of current and prospective treatmentsBone Marrow Transplantation, 2008
- Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorderNeurology, 2008
- Delayed tooth eruption: Pathogenesis, diagnosis, and treatment. A literature reviewAmerican Journal of Orthodontics and Dentofacial Orthopedics, 2004
- The Epidemiology of Progressive Encephalopathies in Childhood I. Live Birth Prevalence in West SwedenNeuropediatrics, 1992