Longitudinal Neurophysiologic Studies in a Patient with Metachromatic Leukodystrophy Following Bone Marrow Transplantation

Anil Dhuna, Camilo Toro, Fernado Torres, William R. Kennedy, William Krivit

Research output: Contribution to journalArticlepeer-review

21 Scopus citations

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 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.

Original languageEnglish (US)
Pages (from-to)1088-1092
Number of pages5
JournalArchives of Neurology
Volume49
Issue number10
DOIs
StatePublished - Oct 1992

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