Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature
Open Access
- 28 December 2009
- journal article
- case report
- Published by SAGE Publications in Journal of Child Neurology
- Vol. 25 (5), 572-580
- https://doi.org/10.1177/0883073809341669
Abstract
Metachromatic leukodystrophy is a rare disorder with great clinical variability. We report the first case of triplets with the late infantile form of the disease and their systematic progression of symptoms. We reviewed the literature and identified all human studies that reported new cases since 1921. We analyzed survival by decade to assess the impact of historical changes in the management of care. Mean age at death and the 5-year survival from onset of symptoms for late infantile, juvenile, and adult phenotypes were 4.2 years and 24.9%, 17.4 years and 70.3%, and 43.1 years and 88.6%, respectively. The 5-year survival of cases reported after 1990 was significantly better than cases reported before 1970 in all subtypes of metachromatic leukodystrophy (late infantile: 52% vs 14%, juvenile: 100% vs 46%, adult: 95% vs 67%). Survival in the late infantile subtype was worse than that in other subtypes. Survival significantly improved over time in all subtypes.Keywords
This publication has 133 references indexed in Scilit:
- Enzyme, cell and gene‐based therapies for metachromatic leukodystrophyJournal of Inherited Metabolic Disease, 2007
- Coincidence of two novel arylsulfatase a alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: Molecular basis of phenotypic heterogeneityHuman Mutation, 1999
- Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophyBrain & Development, 1996
- A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late‐infantile metachromatic leukodystrophyJournal of Inherited Metabolic Disease, 1996
- Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow TransplantationNew England Journal of Medicine, 1990
- Case 7-1984New England Journal of Medicine, 1984
- Computed tomography in late‐infantile metachromatic leukodystrophyAnnals of Neurology, 1978
- Juvenile metachromatic leukodystrophy: Deficiency of an arylsufatase A componentThe Journal of Pediatrics, 1974
- Metachromatic leukodystrophy: Detection in serumThe Journal of Pediatrics, 1973
- Adult Form of Leucodystrophy of Type Scholz-Bielschowsky-Henneberg, with Metachromatic Breakdown Products, in a 55-Year Old Male (Clinical-Anatomic Study)European Neurology, 1965