Leukodystrophies (Inherited White Matter Disorders)

Why Choose Us

Certified Leukodystrophy Center

parent and child talking to doctorThe NewYork-Presbyterian & Weill Cornell Medicine Leukodystrophy Center is a Leukodystrophy Care Network Certified Center by the Leukodystrophy Care Network, an organization 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.  

Designated Specialty Center for Inherited Metabolic Diseases

NewYork-Presbyterian Morgan Stanley Children's Hospital is a New York State-designated Inherited Metabolic Disease Specialty Center — one of only a handful in the state — and a Newborn Screening Center. Newborns with positive screening test results for inherited metabolic disorders are referred to our center for additional testing and clinical follow-up and care if the diagnosis of a metabolic disorder is confirmed.

Expertise in Genetic Testing and Counseling

At NewYork-Presbyterian, our team of highly specialized, internationally recognized geneticists, and genetic counselors provide clinical services to children and adults with rare genetic disorders such as leukodystrophies.

Our geneticists provide comprehensive genomic testing that may not be available or is difficult to access at other institutions. We frequently use exome or research-level genome sequencing to facilitate diagnoses in complex cases, and we offer a second-opinion service to reassess previously performed genomic tests to evaluate patients with undiagnosed disorders.

Multidisciplinary Team Approach

NewYork-Presbyterian’s pediatric neurologists and neurosurgeons are internationally recognized for the diagnosis and treatment of a wide range of neurological diseases and disorders in children.  Their knowledge and clinical expertise across the entire spectrum of pediatric disorders of the brain and spine, coupled with a multidisciplinary team approach, enables them to develop expertise in very rare conditions such as metabolic disorders, movement disorders, cerebrovascular diseases, spasticity, and craniovertebral junction (CVJ) abnormalities.

As physicians affiliated with dedicated children’s hospitals, they collaborate with pediatric specialists in every field of medicine and surgery as needed, including child neurologists and neuroradiologists, anesthesiologists, neuropathology, nurses, child life advocates, and social workers specially trained to work with children.

Pushing the Boundaries Through Research

Our investigators are exploring novel therapeutic approach to alter the natural history of leukodystrophies, thereby providing meaningful therapeutic benefit to patients affected by these devastating disorders. Your child may have the opportunity to participate in a clinical trial of a promising new therapy (See “Clinical Trials” above).   In addition, our program provides patients and families the opportunity to participate in research with the goal of improving care for leukodystrophy patients.  The Leukodystrophy Clinical and Imaging Study is currently investigating the ability of multiple advanced neuroimaging techniques to identify patients appropriate for stem cell transplant prior to symptom onset.  Through the Center for Neurogenetics, we study how the genetic makeup of a patient translates to their neurological disease.

Contact Us

Call for an Appointment

NewYork-Presbyterian & Weill Cornell Medicine

212-746-3278 Rebecca Espinosa, Administrative Specialist


NewYork-Presbyterian Morgan Stanley Children’s Hospital