JUVENILE METACHROMATIC LEUKODYSTROPHY - NEUROLOGICAL OUTCOME 2 YEARS AFTER BONE-MARROW TRANSPLANTATION

Metachromatic leukodystrophy (MLD; McKusick 250100) is an autosomal re cessive inherited neurodegenerative lysosomal disease caused by a defi ciency in arylsulphatase A (ASA; EC 3.1.6.1). Three forms of MLD have been differentiated according to the age of onset: infantile, juvenile and adult. Successful bone marrow transplantation (BMT) engraftment h as been shown to modify the neurological course with a variable effici ency (Krivit et al 1991; Dhuna et al 1992). We describe a girl with fa milial slightly symptomatic juvenile MLD, who underwent a BMT 2 1/2, y ears ago. The patient improved, whereas her untreated brother became q uickly bed-ridden.