Metachromatic leukodystrophy: A case of triplets with the late infantile variant and a systematic review of the literature

Asif Mahmood, Jay Berry, David A. Wenger, Maria Escolar, Magdi Sobeih, Gerald Raymond, Florian S. Eichler

Research output: Contribution to journalReview article

16 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)572-580
Number of pages9
JournalJournal of Child Neurology
Issue number5
StatePublished - May 1 2010


All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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