Leukodystrophy Clinic

Leukodystrophy Clinic

The Nationwide Children’s Hospital Leukodystrophy Clinic provides evidence-based, family-centered clinical care for infants, children and teens with inherited white matter disorders (leukodystrophies). Our goal is to enhance quality of life for children and their families impacted by these conditions through a supportive clinical framework in collaboration with families, a local multidisciplinary team and the national community of the Leukodystrophy Care Network (LCN).

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About The Leukodystrophy Clinic

The Leukodystrophy Clinic at Nationwide Children’s provides comprehensive care for children and their families impacted by genetic white matter diseases of the brain (leukodystrophies). Our Leukodystrophy Clinic places patients and families at the center of a multidisciplinary team that focuses on treating the patient as a whole to achieve the best possible outcomes and quality of life.

Nationwide Children’s is a Leukodystrophy Care Network Certified Center, meeting or exceeding the criteria for LCN Center certification.

The Leukodystrophy Care Network is a community of affected families, organizations and medical providers committed to revolutionizing the health and quality of life of individuals affected by leukodystrophies with proactive, innovative and comprehensive medical care standards and specialized centers. To learn more, please visit the LCN website.

What is Leukodystrophy?

Leukodystrophies are a group of genetic conditions that cause the destruction or abnormal development of the brain’s white matter, which protects the brain’s nerves. There are more than 30 types of leukodystrophies. Some of the more common ones found in children include:

  • Adrenoleukodystrophy (ALD)
  • Aicardi-Goutieres Syndrome
  • Alexander Disease
  • Canavan Disease
  • Globoid Cell Leukodystrophy (Krabbe Disease)
  • GM1 Gangliosidosis
  • GM2 Gangliosidosis (Tay-Sachs Disease, Sandhoff Disease)
  • Hypomyelination with Hypogonadotropic Hypogonadism and Hypodontia (4H Syndrome)
  • Infantile Refsum Disease
  • Metachromatic Leukodystrophy (MLD)
  • Megalencephalic Leukodystrophy with subcortical Cysts (MLC)
  • Neonatal Adrenoleukodystrophy (NALD)
  • Pelizaeus Merzbacher Disease
  • Peroxisomal Biogenesis Disorders
  • Refsum Disease
  • Undiagnosed Leukodystrophies
  • Vanishing White Matter Disease (VWM)
  • Zellweger Syndrome

Although leukodystrophies are caused by genetic changes, not all white matter disorders are genetic; some are acquired inflammatory disorders. The Neuroimmunology Clinic at Nationwide Children’s is a multidisciplinary clinic focused on treatment of autoimmune and acquired neuroinflammatory disorders. Patients with diseases such as autoimmune encephalitis, optic neuritis, transverse myelitis, ADEM, MOG-associated demyelination and multiple sclerosis are seen by a team that includes Neurology, Psychology, Neuropsychology, Psychiatry and Rheumatology.

 

Diagnosis and Treatment

Leukodystrophy diagnosis usually occurs after a child experiences symptoms. Because leukodystrophy describes a group of diseases rather than a single disease, these symptoms can vary. They can include:

  • Balance and mobility problems
  • Behavioral and learning disabilities
  • Breathing difficulties
  • Developmental delays
  • Difficulties with hearing, speech or vision
  • Muscle control difficulties
  • Seizures

When a child experiences symptoms of a leukodystrophy, several tests can help reach a diagnosis:

  • MRI of the brain
  • Blood and urine tests
  • Genetic tests
  • Physical, language and cognitive assessments
  • Evaluation of hearing and vision

In some states, newborn screening is available for pre-symptomatic diagnosis of certain conditions, including Krabbe disease and X-linked Adrenal Leukodystrophy.

For some leukodystrophies, stem cell transplant done early in the course of the disease can be helpful. However, many leukodystrophies have no cure. 

For all patients affected by leukodystrophies, Nationwide Childrens’ Leukodystrophy Clinic provides care to maximize functional abilities and quality of life, including:

  • Physical, occupational and speech therapy
  • Referral for assessment for vision and/or hearing aids
  • Monitoring growth and nutrition
  • Treating spasticity
  • Treating seizures
  • Mobility aids
  • Monitoring for disease-specific complications, such as endocrine and gastrointestinal disease
  • Collaboration with other centers to connect patients with disease-specific emerging therapies

Children diagnosed with leukodystrophy are generally seen in the Leukodystrophy Clinic every 3-6 months for disease monitoring, symptom management and anticipatory care. Nationwide Children’s seeks to coordinate appointments with other specialty providers, as needed. Our leukodystrophy patients receive care from a team made up of a child neurologist, neurology nurse practitioner and complex care physician and are seen by one or more of our team members at each clinic appointment. For patients traveling from out of town, lodging assistance is available at the Ronald McDonald House at the family’s request.

Contact Us

Health care providers seeking an urgent referral may call our office at (614) 722-4625.

Health care providers with non-urgent referrals may fax referral information to (614) 722-4633 or enter the data on our web portal (please specify the referral to “Neurology, Leukodystrophy Care Center”).

Patients and families may request a referral to the Leukodystrophy Clinic from their primary care provider or specialist. To help speed up the referral process, a patient or family may call our office at (614) 722-4625 to let us know that a referral is being requested.

For more information, you may also email us at Leukodystrophy@NationwideChildrens.org

The Leukodystrophy Clinic is located in the Neurology clinic area on the 5th floor of the Outpatient Care Center at 555 S. 18th St., Columbus, Ohio 43205-2696.