Chandrabhaga Miskin1, Joseph J Melvin1, Agustin Legido1, David A Wenger2, Sue Moyer Harasink1, Divya S Khurana3. 1. Section of Neurology, St Christopher's Hospital for Children, Philadelphia, Pennsylvania; Department of Pediatrics, Drexel University College of Medicine, Philadelphia, Pennsylvania. 2. Department of Neurology, Thomas Jefferson University, Philadelphia, Pennsylvania. 3. 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.
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. PATIENT DESCRIPTION: 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. CONCLUSION: This child illustrates the clinical heterogeneity of multiple sulfatase deficiency and that this disorder can occur without the classic clinical features.
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 humanC (alpha)-formylglycine-generating enzyme. There have been a variety of biochemical and clinical presentations reported in this disorder. PATIENT DESCRIPTION: 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. CONCLUSION: This child illustrates the clinical heterogeneity of multiple sulfatase deficiency and that this disorder can occur without the classic clinical features.
Authors: Rebecca Ahrens-Nicklas; Lars Schlotawa; Andrea Ballabio; Nicola Brunetti-Pierri; Mauricio De Castro; Thomas Dierks; Florian Eichler; Can Ficicioglu; Alan Finglas; Jutta Gaertner; Brian Kirmse; Joerg Klepper; Marcus Lee; Amber Olsen; Giancarlo Parenti; Arastoo Vossough; Adeline Vanderver; Laura A Adang Journal: Mol Genet Metab Date: 2018-01-31 Impact factor: 4.797