Leukodystrophies (Inherited White Matter Disorders)

Diagnosis & Treatment

How We Diagnose Leukodystrophy

Newborn Screening

Within 48 hours of birth, all babies are screened for 40 inborn errors of metabolism — genetic defects that interfere with their ability to process substances like carbohydrates, proteins, and fats.  The genetic defects responsible for leukodystrophies are included in these screenings. Newborns with positive screening test results for these disorders are referred to the NewYork-Presbyterian Morgan Stanley Inherited Metabolic Disease Specialty Center for additional testing, clinical follow-up, and care if the diagnosis of a metabolic disorder is confirmed.

Confirming the Diagnosis

If your child has a suspected leukodystrophy, our multidisciplinary team of specialists at The NewYork-Presbyterian & Weill Cornell Medicine Leukodystrophy Center provides advanced genetic sequencing to identify and pinpoint specific genetic defects, metabolic derangements, and abnormalities on brain imaging with MRI.  These diagnostic tools establish or confirm a precise diagnosis and determine how much the disease has progressed.

Our Approach to Care

nurse high fives child patient

Holistic and Comprehensive Care for Patients and Family

At NewYork-Presbyterian, we recognize that every patient with a leukodystrophy has a unique combination of symptoms, circumstances, and needs.  Our team takes a holistic approach to care that considers the entire patient, including his or her physical, emotional, and social factors.  We strive to partner with patients and their parents in shared decision-making, empowering them with knowledge, support, and the most effective treatment options to address symptoms and improve their quality of life. Genetic counseling may be recommended for family members to provide information on the recurrences of the metabolic disorder and any available testing.

Because we are part of a world-class medical center, we have the ability to centralize care for our patients and connect our patients to providers in more than 100 specialties and subspecialties. When the time comes, we can provide the support patients and their families need to ensure a smooth transition from pediatric to adult care.

Continuity of Care Throughout the Lifespan of the Child

There is a growing recognition that pediatric patients with chronic conditions need to receive continuous care by experienced and familiar physicians as they age beyond their childhood years. At NewYork-Presbyterian, we take a multidisciplinary approach that focuses on the whole child and offers them the best opportunity to enjoy a normal transition from childhood to adulthood.

Our care teams embrace children with a lifelong need for specialized care, such as those with leukodystrophies. We understand the continuous needs of their patients regardless of age and are vested in making certain that the transition from childhood to adulthood is simplified by not needing to change care teams. Our teams work with children through their adolescence, teen years, and early adulthood to help them understand their responsibility for their health and achieve their personal goals at every stage. 

When it is time, we help our patients with white matter disorders seamlessly transition to one of our adult physicians in the NewYork-Presbyterian Neurology & Neurosurgery program.

How We Treat Leukodystrophy

Leukodystrophy does not have a cure yet. However, there are available treatments that can reduce your child’s symptoms and improve their quality of life. The type of leukodystrophy diagnosed in your child will determine what treatment options we will pursue. 

All patients are cared for by our team of specialists who aim to provide supportive care and maximize quality of life. For those patients eligible for stem cell transplantation, the Leukodystrophy team at NewYork-Presbyterian & Weill Cornell Medicine in partnership with Memorial Sloan Kettering Cancer Center provides expertise in hematopoietic stem cell transplantation. 

Clinical Trials

The NewYork-Presbyterian & Weill Cornell Medicine Leukodystrophy Center is currently the site of multiple clinical trials, including trials in Gene Therapy to address patients affected by leukodystrophy.  For more information, please go to the Clinical Trials office.

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