1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-2-58-a 10.15844/pedneurbriefs-2-8-2 Heredo-Degenerative Diseases Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Multiple Sulfatase Deficiency http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 08 1988 01 08 2016 2 8 58 58 Copyright: © 1988 The Author(s) 1988 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Multiple sulfatase deficiency

A 9-year-old girl with a phenotype similar to a mucopolysaccharidosis (MPS) and a clinical history characteristic of late infantile metachromatic leukodystrophy (MLD) is reported from the Department of Neurology, National Defense Medical Center, Taipei, Taiwan, Republic of China; the Developmental and Metabolic Neurology Branch, NIH, Bethesda, Maryland; and Department of Pediatrics (Dr. Horwitz), University of Chicago, Chicago, Illinois.

 Flu-Like Illness Slurred Dysmorphic Features

A 9-year-old girl with a phenotype similar to a mucopolysaccharidosis (MPS) and a clinical history characteristic of late infantile metachromatic leukodystrophy (MLD) is reported from the Department of Neurology, National Defense Medical Center, Taipei, Taiwan, Republic of China; the Developmental and Metabolic Neurology Branch, NIH, Bethesda, Maryland; and Department of Pediatrics (Dr. Horwitz), University of Chicago, Chicago, Illinois. The girl's early history and development were normal up to 18 months of age. Following a high fever with a flu-like illness, her gait became unsteady and broad- based. Gradually her speech became slurred and her vocabulary deteriorated. Examination at 7 1/2 years showed short stature and microcephaly. She was autistic and inattentive, with marked cognitive impairment. She had hyperreflexia, extensor plantar responses, dysmetria, and incoordination. Dysmorphic features suggested MPS but dysostosis multiplex and organomegaly were absent. Funduscopic examination revealed a cherry-red-like spot and yellowish-granular appearance of the retina. Deficient activities of arylsulfatase-A, arylsulfatase-B, iduronate sulfatase, and heparan N-sulfatase in the leukocytes established the diagnosis as MSD. The total urinary content of the glycosaminoglycans was normal, but the concentration of heparan sulfate was increased, stressing the need for qualitative estimations when MSD is suspected. [1]

COMMENT. Multiple sulfatase deficiency or mucosulfatidosis (MSD) is an autosomal recessive genetic disease affecting the expression of lysosomal sulfatases with consequent accumulation of sulfate-containing glycolipids, glycosaminoglycans, and steroid sulfates in tissues and body tissues. The clinical manifestations represent a combination of 2 diseases: late infantile MLD and MPS. The disorder is rare and the authors cite 20 previous reports of this phenotype.

 Soong BW Casamassima AC Fink JK Constantopoulos G Horwitz AL Multiple sulfatase deficiency Neurology 1988 Aug 38 8 1273 1275 10.1212/WNL.38.8.1273 2899861