title: Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.
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.
authors.affiliation: Department of Internal Medicine, University of Texas Medical Branch, Galveston, Texas, USA.
authors.forename: Asif
authors.initials: A
authors.lastname: Mahmood
authors.forename: Jay
authors.initials: J
authors.lastname: Berry
authors.forename: David A
authors.initials: DA
authors.lastname: Wenger
authors.forename: Maria
authors.initials: M
authors.lastname: Escolar
authors.forename: Magdi
authors.initials: M
authors.lastname: Sobeih
authors.forename: Gerald
authors.initials: G
authors.lastname: Raymond
authors.forename: Florian S
authors.initials: FS
authors.lastname: Eichler
mesh_terms: D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000473:pathology; D018450:Disease Progression; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000235:genetics / Q000401:mortality / Q000473:pathology; D012737:Sex Factors; D014310:Triplets