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Clinical diagnosis is usually confirmed by in vitro analysis of arylsulfatase A activity but may be complicated in cases of arylsulfatase A pseudodeficiency and sphingolipid activators protein deficiency. We report the case of a 3-year-old boy who presented a severe form of late infantile metachromatic leukodystrophy. This patient was found to be homozygous for the arylsulfatase A pseudodeficiency. This condition is rare and can lead to a severe disease. Prenatal diagnosis was performed in this family, and the fetus was healthy.<\/jats:p>","DOI":"10.1177\/0883073809334382","type":"journal-article","created":{"date-parts":[[2009,7,2]],"date-time":"2009-07-02T22:35:57Z","timestamp":1246574157000},"page":"82-86","source":"Crossref","is-referenced-by-count":6,"title":["An Unusual Homozygous Arylsulfatase: A Pseudodeficiency in a Metachromatic Leukodystrophy Tunisian Patient"],"prefix":"10.1177","volume":"25","author":[{"given":"Faten","family":"Tinsa","sequence":"first","affiliation":[{"name":"Department of Pediatrics B, Children's Hospital of Tunis, Bab Saadoun, Tunis, Tunisie,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Caillaud","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9tabolique (AP-HP), Facult\u00e9 de M\u00e9decine Cochin Port-Royal, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie Th\u00e9r\u00e8se","family":"Vanier","sequence":"additional","affiliation":[{"name":"INSERM, Lyon-La\u00ebnnec Medical School, Lyon, France, and Laboratoire Gillet-Merieux, Hopitaux de Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorra","family":"Bousnina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics B, Children's Hospital of Tunis, Bab Saadoun, Tunis, Tunisie"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khadija","family":"Boussetta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics B, Children's Hospital of Tunis, Bab Saadoun, Tunis, Tunisie"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Souad","family":"Bousnina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics B, Children's Hospital of Tunis, Bab Saadoun, Tunis, Tunisie"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2009,7,2]]},"reference":[{"key":"atypb1","unstructured":"Von Figura K., Gieselmann V., Jaeken J. 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