title: A Patient With Atypical Multiple Sulfatase Deficiency.
abstract: BACKGROUND
  Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder characterized by the absence of several sulfatases and resulting from mutations in the gene encoding the human C (alpha)-formylglycine-generating enzyme. There have been a variety of biochemical and clinical presentations reported in this disorder.
  
  
  METHODS
  We present a 4-year-old girl with clinical findings of microcephaly, spondylolisthesis and neurological regression without ichthyosis, coarse facies, and organomegaly.
  
  
  RESULTS
  The child's magnetic resonance imaging demonstrated confluent white matter abnormalities involving the periventricular and deep cerebral white matter with the U-fibers relatively spared. Biochemical testing showing low arylsulfatase A levels were initially thought to be consistent with a diagnosis of metachromatic leukodystrophy. The diagnosis of multiple sulfatase deficiency was pursued when genetic testing for metachromatic leukodystrophy was negative.
  
  
  CONCLUSIONS
  This child illustrates the clinical heterogeneity of multiple sulfatase deficiency and that this disorder can occur without the classic clinical features.
authors.affiliation: Section of Neurology, St Christopher's Hospital for Children, Philadelphia, Pennsylvania; Department of Pediatrics, Drexel University College of Medicine, Philadelphia, Pennsylvania.
authors.forename: Chandrabhaga
authors.initials: C
authors.lastname: Miskin
authors.affiliation: Section of Neurology, St Christopher's Hospital for Children, Philadelphia, Pennsylvania; Department of Pediatrics, Drexel University College of Medicine, Philadelphia, Pennsylvania.
authors.forename: Joseph J
authors.initials: JJ
authors.lastname: Melvin
authors.affiliation: Section of Neurology, St Christopher's Hospital for Children, Philadelphia, Pennsylvania; Department of Pediatrics, Drexel University College of Medicine, Philadelphia, Pennsylvania.
authors.forename: Agustin
authors.initials: A
authors.lastname: Legido
authors.affiliation: Department of Neurology, Thomas Jefferson University, Philadelphia, Pennsylvania.
authors.forename: David A
authors.initials: DA
authors.lastname: Wenger
authors.affiliation: Section of Neurology, St Christopher's Hospital for Children, Philadelphia, Pennsylvania; Department of Pediatrics, Drexel University College of Medicine, Philadelphia, Pennsylvania.
authors.forename: Sue Moyer
authors.initials: SM
authors.lastname: Harasink
authors.affiliation: Section of Neurology, St Christopher's Hospital for Children, Philadelphia, Pennsylvania; Department of Pediatrics, Drexel University College of Medicine, Philadelphia, Pennsylvania. Electronic address: divya.khurana@drexelmed.edu.
authors.forename: Divya S
authors.initials: DS
authors.lastname: Khurana
mesh_terms: D002553:Cerebroside-Sulfatase / Q000097:blood; D002675:Child, Preschool; D005260:Female; D005998:Glycine / Q000031:analogs & derivatives / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D052517:Multiple Sulfatase Deficiency Disease / Q000097:blood / Q000000981:diagnostic imaging* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D066127:White Matter / Q000000981:diagnostic imaging*
chemical_list: C032736:N-formylglycine; D002553:Cerebroside-Sulfatase; D005998:Glycine
keywords: leukodystrophy; multiple sulfatase deficiency; neurological regression