TY - JOUR
T1 - Longitudinal Neurophysiologic Studies in a Patient with Metachromatic Leukodystrophy Following Bone Marrow Transplantation
AU - Dhuna, Anil
AU - Toro, Camilo
AU - Torres, Fernado
AU - Kennedy, William R.
AU - Krivit, William
N1 - Copyright:
Copyright 2015 Elsevier B.V., All rights reserved.
PY - 1992/10
Y1 - 1992/10
N2 - 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 43/4 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.
AB - 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 43/4 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.
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U2 - 10.1001/archneur.1992.00530340114026
DO - 10.1001/archneur.1992.00530340114026
M3 - Article
C2 - 1417517
AN - SCOPUS:0026629838
SN - 0003-9942
VL - 49
SP - 1088
EP - 1092
JO - Archives of Neurology
JF - Archives of Neurology
IS - 10
ER -