Pediatric Leukodystrophy Clinic

Leukodystrophies are rare genetic disorders that affect the white matter of the brain. These conditions can impact a child's ability to move, think, and communicate.

Some of the leukodystrophies we treat:

• Adrenoleukodystrophy (X-ALD)
• Aicardi–Goutières syndrome
• Alexander disease
• Canavan disease
• Krabbe disease (globoid cell leukodystrophy)
• Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
• Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
• Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
• Metachromatic leukodystrophy (MLD)
• Pelizaeus-Merzbacher disease (PMD)
• Zellweger spectrum disorders (peroxisomal biogenesis disorders)
• 4H syndrome (POLR3-related leukodystrophy)
• Vanishing white matter disease (VWM)
• Undiagnosed leukodystrophies

In children with leukodystrophies, the protective coating around nerve fibers (called myelin) breaks down or doesn't form properly. This can lead to problems with how the brain sends and receives messages.

Our Leukodystrophy Clinic

If your child is affected by a leukodystrophy, the Leukodystrophy Clinic at Stanford Medicine Children's Health is here to help. Our clinic brings together top specialists and researchers who work as a team to provide the best care for your child and family.

We know that leukodystrophies are complex conditions. That's why we believe teamwork is key to giving your child the most personalized and caring treatment possible. Our team includes experts in Neurology, Genetics & Metabolism, Pulmonology, and Rehabilitation.

We also offer support from genetic counselors and social workers to help your family navigate this journey.

Advanced care and research

As part of a leading research hospital, we have access to resources that many other hospitals don't. This includes the latest clinical trials and cutting-edge treatments. Our team is always working to improve our understanding of leukodystrophies and find better ways to help children with these conditions. The director of the Leukodystrophy Clinic, Keith Van Haren, MD, is also the director of the Van Haren Lab, which is at the forefront of leukodystrophy research and care.

At the Leukodystrophy Clinic, we're committed to providing your child and family with the most effective and compassionate care available.