Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.

Laura Lorioli, Martina Cesani, Stefano Regis, Francesco Morena, Serena Grossi, Francesca Fumagalli, Serena Acquati, Daniela Redaelli, Antonella Pini, Maria Sessa, Sabata Martino, Mirella Filocamo, Alessandra Biffi

Journal: Gene 2014;537(2):348-51

PMID: 24334127

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Abstract

Metachromatic Leukodystrophy is a lysosomal storage disorder caused by Arylsulfatase A deficiency. Diagnosis is usually performed by measurement of enzymatic activity and/or characterization of the gene mutations. Here we describe a family case in which the determination of enzyme activity alone did not allow diagnosis of the pre-symptomatic sibling of the index case. Only combination of gene sequencing with thorough biochemical analysis allowed the correct diagnosis of the sibling, who was promptly directed to treatment.

Address: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; HSR-TIGET Pediatric Clinical Research Unit, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Pediatric Immunohematology, San Raffaele Scientific Institute, Milan, Italy; Vita Salute San Raffaele University, Milan, Italy.; San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.; "Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche", Istituto G. Gaslini, Genova, Italy.; Department of Experimental Medicine and Biochemical Sciences, Sect. Biochemistry and Molecular Biology, University of Perugia, Italy.; HSR-TIGET Pediatric Clinical Research Unit, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Neurology Unit, Department of Neurology, San Raffaele Scientific Institute, Milan, Italy.; Child Neuropsychiatric Unit, IRCCS Istituto Scienze Neurologiche, AUSL Bologna, Bologna, Italy.; San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; HSR-TIGET Pediatric Clinical Research Unit, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Pediatric Immunohematology, San Raffaele Scientific Institute, Milan, Italy. Electronic address: [email protected].

DOI: 10.1016/j.gene.2013.11.062

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MeSH Terms: Alleles, Cerebroside-Sulfatase, Female, Heterozygote, Humans, Infant, Leukodystrophy, Metachromatic, Male