SynthesisJournal of child neurology2010
Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.
Synthesis in Journal of child neurology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.European journal of medical research · 2024Pooled it
- A systematic review of clinical effectiveness and safety for historical and current treatment options for metachromatic leukodystrophy in children, including atidarsagene autotemcel.Orphanet journal of rare diseases · 2023Pooled it
- Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications.Clinical case reports · 2026Article
- Preliminary Data of the First Year of Newborn Screening for Metachromatic Leukodystrophy (MLD) in Lombardy.International journal of neonatal screening · 2026Article
- A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family.Neurogenetics · 2025Article
- Psychotic attack during the clinical course of megalencephalic leukoencephalopathy with subcortical cysts: a case report.European child & adolescent psychiatry · 2025Article
- Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK.International journal of neonatal screening · 2024Article
- Review
- A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead.JIMD reports · 2023Article
- Psychosis Caused by a Somatic Condition: How to Make the Diagnosis? A Systematic Literature Review.Children (Basel, Switzerland) · 2023Review
- Myelin lipid metabolism and its role in myelination and myelin maintenance.Innovation (Cambridge (Mass.)) · 2023Review
- The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland.Orphanet journal of rare diseases · 2022Article
- Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy.Orphanet journal of rare diseases · 2022Article
- An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy.Orphanet journal of rare diseases · 2022Article
- Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi).Orphanet journal of rare diseases · 2022Article
- Lipophagy and Lipolysis Status in Lipid Storage and Lipid Metabolism Diseases.International journal of molecular sciences · 2020Review
- Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire.Journal of patient-reported outcomes · 2019Article
- Phenotypic variation between siblings with Metachromatic Leukodystrophy.Orphanet journal of rare diseases · 2019Article
- Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities.Journal of child neurology · 2019Review
- Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers.Orphanet journal of rare diseases · 2019Article
Corrections and comments
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Authors and funding
7 authors.
Funding
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.
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