The Turkish Journal of Pediatrics 2014 , Vol 56 , Num 4
Neonatal Multiple Sulfatase Deficiency with a Novel Mutation and Review of the Literature
Divisions of 1Pediatric Genetics, 4Neonatology and 5Pediatric Intensive Care, Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, 3Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey, and 2Department of Pediatrics, Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
Multiple sulfatase deficiency is a rare autosomal recessive disorder in which affected individuals present a complex phenotype due to the impaired activity of all sulfatases. There are different types of multiple sulfatase deficiency; among them, the neonatal form is the most severe, with a broad range of mucopolysaccharidosis-like symptoms and death within the first year of life. The disorder is caused by homozygous or compound heterozygous mutations in the sulfatase-modifying factor-1 (SUMF1) gene. In this article, we describe a non-ichthyotic neonatal multiple sulfatase deficiency patient with a novel mutation in the SUMF1 gene. The missense mutation c.777C>G, for which the patient was homozygous, had been caused by a p.N259K amino acid substitution. We evaluated the patient using clinical findings, neuroimaging studies and molecular analysis via the literature; we also wanted to note the difficulties in the diagnosis of this rare disease. Keywords : lysosomal storage disease, multiple sulfatase deficiency, ichthyosis, neonatal
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