title: An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.
abstract: Metachromatic leukodystrophy is an autosomal recessive neurodegenerative lysosomal disease characterized by a deficiency of the lysosomal enzyme arylsulfatase A and the subsequent accumulation of sulfatide in neuronal and visceral tissues. 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.
authors: Department of Pediatrics B, Children's Hospital of Tunis, Tunis, Tunisie. faten.tinsa@hotmail.fr
authors: Faten
authors: F
authors: Tinsa
authors: Catherine
authors: C
authors: Caillaud
authors: Marie Thérèse
authors: MT
authors: Vanier
authors: Dorra
authors: D
authors: Bousnina
authors: Khadija
authors: K
authors: Boussetta
authors: Souad
authors: S
authors: Bousnina
mesh_terms: D001921:Brain / Q000473:pathology; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D002675:Child, Preschool; D017809:Fatal Outcome; D006720:Homozygote; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D011296:Prenatal Diagnosis; D014416:Tunisia
chemical_list: D002553:Cerebroside-Sulfatase