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December 1962

Sulfatide Lipidosis in Childhood: Report of a Case Investigated During Life and at Autopsy

Author Affiliations

Bengt Hagberg, Department of Pediatrics, University Hospital, Akademiska Sjukhuset, Uppsala, Sweden.; Assistant Professor of Pediatrics, Department of Pediatrics, University of Uppsala (Dr. Hagberg). Associate Professor of Pathology, University of Gothenburg (Dr. Sourander). Assistant Professor of Neurochemistry, University of Gothenburg (Dr. Svennerholm).; From the Department of Pediatrics, University Hospital, Uppsala, and the Departments of Pathology I and Medical Biochemistry, University of Gothenburg, Sweden.

Am J Dis Child. 1962;104(6):644-656. doi:10.1001/archpedi.1962.02080030644009

Late infantile metachromatic leukodystrophy has gained great interest since 1958 when it was shown to be a lipidosis with an accumulation of sulfatides (sulfuric acid esters of cerebrosides) in various organs.2,8,17 It is also possible now to base a reliable diagnosis during life on clinical symptoms and signs combined with laboratory tests.1,10,12,13 As no full report of cases diagnosed during life has been found in the literature, we want to present a case thoroughly followed during 2 years and investigated clinically, histologically, and chemically. This case in abstract has previously been included in an earlier paper (Hagberg and Svennerholm, 1960, Case 1) and is the most thoroughly followed of 10 cases diagnosed and studied by our group.

I. Report of a Case  The girl was born Jan. 27, 1956, and was the only child in a healthy family. She was born at term with a birth weight of

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