Pediatrics (2021) 148 (3): e2021053126. https://doi.org/10.1542/peds.2021-053126
Joshua L. Bonkowsky, MD, PhD, FAAP; Stephanie Keller, MD, FAAP; AAP Section on Neurology, Council on Genetics Jamie K. Capal, MD, FAAP; Timothy Lotze, MD, FAAP; Renée A. Shellhaas, MD, FAAP; David K. Urion, MD, FAAP; Emily Chen, MD, PhD, FAAP; Tracy L. Trotter, MD, FAAP; Susan A. Berry, MD, FAAP; Leah W. Burke, MD, FAAP; Timothy A. Geleske, MD, FAAP; Rizwan Hamid, MD, FAAP; Robert J. Hopkin, MD, FAAP; Wendy J. Introne, MD, FAAP; Michael J. Lyons, MD, FAAP; Angela E. Scheuerle, MD, FAAP; Joan M. Stoler, MD, FAAP
Leukodystrophies are a group of genetically determined disorders that affect development or maintenance of central nervous system myelin. Leukodystrophies have an incidence of at least 1 in 4700 live births and significant morbidity and elevated risk of early death. This report includes a discussion of the types of leukodystrophies; their prevalence, clinical presentation, symptoms, and diagnosis; and current and future treatments. Leukodystrophies can present at any age from infancy to adulthood, with variability in disease progression and clinical presentation, ranging from developmental delay to seizures to spasticity. Diagnosis is based on a combination of history, examination, and radiologic and laboratory findings, including genetic testing. Although there are few cures, there are significant opportunities for care and improvements in patient well-being. Rapid advances in imaging and diagnosis, the emergence of and requirement for timely treatments, and the addition of leukodystrophy screening to newborn screening, make an understanding of the leukodystrophies necessary for pediatricians and other care providers for children.