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Slow Progression of Juvenile Metachromatic Leukodystrophy 6 Years After Bone Marrow Transplantation

Department of Pediatrics, University of Hamburg, Hamburg, Germany

Ralf W. Dittmann, MD, PhD

Divison of Pediatric Psychosomatic Medicine, University of Hamburg, Hamburg, Germany

Barbara Granitzny

Divison of Pediatric Psychosomatic Medicine, University of Hamburg, Hamburg, Germany

Wilhelm Eickhoff, MD

Department of Neurology, University of Hamburg, Hamburg, Germany

Henning Wulbrand, MD

Department of Pediatrics, University of Hamburg, Hamburg, Germany

Eva Neumaier-Probst, MD

Department of Neuroradiology, University of Hamburg, Hamburg, Germany

Axel Zander, MD

Department of Bone Marrow Transplantation University of Hamburg, Hamburg, Germany

Alfried Kohlschüetter, MD

Department of Pediatrics, University of Hamburg, Hamburg, Germany, kohlschuetter{at}uke.uni-hamburg.de

Metachromatic leukodystrophy refers to a group of genetic neurologic diseases caused by deficiencies of the enzyme arylsulfatase A and the resulting accumulation of sulfatides in white matter. Bone marrow transplantation has been advocated as a treatment in an attempt to correct the enzyme deficiency. Such a transplant was performed in 1991 in a 16-year-old girl with a form of late juvenile metachromatic leukodystrophy caused by a homozygous P426L mutation in the arylsulfatase A gene. Engraftment was prompt and resulted in constant enzymatic normalization of circulating lymphocytes. The elevated urinary excretion of sulfatides remained unaffected. Clinical findings up until transplantation consisted of gait disturbances, impairment of cognitive functioning, and deterioration in school performance over several years. During a 6-year follow-up period, the patient's condition was subject to major fluctuations but, on the whole, findings showed slow neurologic and neurophysiologic deterioration. The clinical course observed after bone marrow transplantation probably more or less reflects the natural course expected in this form of late-onset metachromatic leukodystrophy. (J Child Neurol 1999; 14:222-228).

Journal of Child Neurology, Vol. 14, No. 4, 222-228 (1999)
DOI: 10.1177/088307389901400402


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