title: Longitudinal neurophysiologic studies in a patient with metachromatic leukodystrophy following bone marrow transplantation.
abstract: We describe a girl with late infantile metachromatic leukodystrophy. The patient has been followed up with serial neurologic and neurophysiologic examinations for 8 years following bone marrow transplantation, which she underwent when she was 4 3/4 years old. Her older sister died from metachromatic leukodystrophy at the age of 8 years, whereas our patient has retained significant cognitive and motor skills. Serial neurophysiologic studies initially demonstrated continued deterioration after the bone marrow transplantation, but since then, most results have remained stable or improved. Although, to our knowledge, there have been no previous serial studies of metachromatic leukodystrophy, individual case studies suggest that these findings in our patient are very unusual. With the advent of possible treatment for this condition, there is a need for further serial neurophysiologic studies to characterize the natural progression and the possible detection of progression or reversal with treatment.
authors.affiliation: Department of Neurology, University of Minnesota, Minneapolis 55455.
authors.forename: A
authors.initials: A
authors.lastname: Dhuna
authors.forename: C
authors.initials: C
authors.lastname: Toro
authors.forename: F
authors.initials: F
authors.lastname: Torres
authors.forename: W R
authors.initials: WR
authors.lastname: Kennedy
authors.forename: W
authors.initials: W
authors.lastname: Krivit
mesh_terms: D000200:Action Potentials; D016026:Bone Marrow Transplantation; D002648:Child; D004594:Electrophysiology; D005071:Evoked Potentials; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000503:physiopathology*; D009431:Neural Conduction; D010525:Peripheral Nerves / Q000503:physiopathology