Neurology

Leukodystrophies

Image of doctor examining child

A child diagnosed with leukodystrophies needs highly specialized care. At Mount Sinai’s Leukodystrophy Program, our team of experts uses the latest diagnostic and treatment options. We offer services at two locations, for your convenience. Our services have been certified as among the best in the nation by the Hunter’s Hope Leukodystrophy Care Network.

Leukodystrophies are rare genetic disorders that affect the nerves in brain that enable communication (called white matter). The word comes from leuko, which means white, and dystrophy, which means tissue that degenerates, or breaks down. These disorders can occur at any time in life. There are various metabolic and genetic conditions that cause a leukodystrophy in newborns, children, and teenagers. It is important to get care as early as possible, while the condition is most treatable. While we consider leukodystrophies a disease of the brain, they can also affect other body systems. At Mount Sinai, we treat a variety of types of leukodystrophies, including:

  • Aicardi Goutieres syndrome
  • Krabbe disease
  • Metachromatic leukodystrophy
  • Mitochondrial disorders
  • Vanishing white matter
  • X-linked adrenoleukodystrophy

Infants with leukodystrophies can experience a range of symptoms, including:

  • Behavior changes; irritability
  • Difficulty eating and swallowing
  • Excessive fatigue and thirst
  • Generalized weakness
  • Neuropathy
  • Seizures

Children and adolescents with these diseases can also experience these symptoms. In addition, they might also display:

  • Bowel or bladder incontinence
  • Cognitive decline
  • Confusion
  • Difficulty walking or moving; falling
  • Vision or hearing changes

Care We Offer

We carefully follow our patients to make sure any disease is caught early. The current recommendations for X-linked adrenoleukodystrophy are to perform clinical examinations every 6 to 12 months and perform an MRI of the brain at recommended intervals depending on the age. A brain MRI can show when it is time for treatment. 

Every patient sees a team of experts, including endocrinologists, neurologists, and a clinic coordinator. We also work with specialists in areas including:

  • Audiology
  • Cardiology
  • Genetics
  • Hematology/oncology
  • Ophthalmology
  • Physical therapy
  • Pulmonology
  • Rehabilitation medicine

When appropriate, we coordinate with the bone marrow transplant team at Memorial Sloane Kettering in Manhattan.

Genetics

Leukodystrophies are genetic. That means that a newborn with the disease may have parents who are carriers. We may need to test our patients’ parents. If we find that the parents are carriers, they may need a neurologist to follow them, to make sure they do not develop any symptoms. While our pediatric department cannot provide those services, we can send you to the adult neurology department. These specialists also care for our patients when they “age out” of pediatrics at age 21. Adult neurology includes neuromuscular services.

One of the Best in the Nation

The Mount Sinai Health System is a Leukodystrophy Care Network (LCN) Center, certified by Hunter’s Hope, <link to www.leukodystrophycarenetwork.org> a national organization, as one of the national leaders in addressing leukodystrophies. Mount Sinai meets or exceeds the criteria for LCN certification. The Hunter’s Hope LCN is a community of affected families, organizations, and medical providers committed to revolutionizing the health and quality of life of people affected by leukodystrophies with proactive, innovative, and comprehensive medical care standards and specialized centers.

Directors of  Leukodystrophy Program

Clinic Coordinator

  • Alexandra Vierling, NP

Neurology Team