Longitudinal neurophysiologic studies in a patient with metachromatic leukodystrophy following bone marrow transplantation
A. Dhuna, C. Toro, F. Torres, W. R. Kennedy and W. Krivit
Department of Neurology, University of Minnesota, Minneapolis 55455.
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.
