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Case Reports
. 2010 May;25(5):572-80.
doi: 10.1177/0883073809341669. Epub 2009 Dec 28.

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

Asif Mahmood  1 , Jay Berry, David A Wenger, Maria Escolar, Magdi Sobeih, Gerald Raymond, Florian S Eichler
Affiliations
Case Reports

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

Asif Mahmood et al. J Child Neurol. 2010 May.

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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Conflict of interest statement

The authors have no conflicts of interest.

Figures

Figure 1
Figure 1
Brain MRI of triplets at 15 months (A) and 4 years (B) of age. Axial fast fluid-attenuated inversion recovery (repetition time = 10,000 milliseconds, echo time = 140 milliseconds, inversion time: 2200 milliseconds) images are shown.
Figure 2
Figure 2
Comparison of survival probability from onset of symptoms in the three subtypes of metachromatic leukodystrophy.
Figure 3
Figure 3
Comparison of 5-year survival probability in three subtypes over time.
See this image and copyright information in PMC

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