14800-DvRappard

50 Chapter 3 SUMMARY Metachromatic leukodystrophy (MLD) is an inherited neurodegenerative demyelinating disorder. Its recognition may be challenging, especially when patients present with psychiatric symptoms. Early diagnosis is crucial to allow life-saving treatment, hematopoietic cell transplantation (HCT) . We describe the clinical course of 4 MLD patientswhowere first evaluatedby a psychiatrist.WhenMLDwas eventually diagnosed, HCT was no longer possible in 2 patients due to disease progression between first symptoms and correct diagnosis. In the other 2 patients, diagnosis was made just in time to perform HCT, which halted disease progression.