Pitfalls in the Diagnosis of Multiple Sulfatase Deficiency

Multiple sulfatase deficiency (MSD, OMIM 272200) is an autosomal recessive leukodystrophy associated with the deficiency of several, in total seven, sulfatases. The disorder is clinically and biochemically variable. The clinical picture combines features of mucopolysaccharidosis and metachromatic leukodystrophy (MLD, OMIM 250100) in a variable spectrum. Here we report a 3-year old Iranian girl with an MLD-like presentation of MSD. Arylsulfatase A deficiency and sulfatide excretion were found. Differently from what was previously reported in the literature, this girl never showed abnormal mucopolysaccharide excretion in the urine. There were no additional visceral or skeletal signs. She was originally diagnosed as having MLD. Only when she developed ichthyosis were seven additional sulfatases measured. In leukocytes, arylsulfatase A, steroid sulfatase and N-acetylglucosamine-6 sulfatase were profoundly deficient, while iduronate-2 sulfatase and arylsulfatase B were moderately reduced. In fibroblasts, N-acetylglucosamine-6 sulfatase was deficient, while arylsulfatase A was moderately reduced. This case illustrates the possible pitfalls in the clinical and laboratory diagnosis of MSD.

Key words

Lysosome - Arylsulfatase - Steroid sulfatase - Ichthyosis - MSD

References

• 1 al Aqeel A, Ozand P T, Brismar J, Gascon G G, Nester M, Sakati N. Saudi variant of multiple sulfatase deficiency.  J Child Neurol. 1992;  7 (Suppl) 12-21
• 2 Basner R, Figura von K, Glossl J, Klein U, Kresse H, Mlekusch W. Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis.  Pediatr Res. 1979;  13 1316-1318
• 3 Costantopoulos G. Multiple sulfatase deficiency with a novel biochemical presentation.  Eur J Pediatr. 1988;  147 634-638
• 4 Eto Y, Numaguchi S, Handa T. Urinary acid mucopolysaccharides in multiple sulfatase deficiency (mucosulfatidosis).  Eur J Pediatr. 1979;  132 207-211
• 5 Harbord M, Buncic J R, Chuang S A, Skomorowski M A, Clarke J T. Multiple sulfatase deficiency with early severe retinal degeneration.  J Child Neurol. 1991;  6 229-235
• 6 McKusick V. OMIM (Online Mendelian Inheritance in Man) catalogus: http://www3.ncbi.nlm.nih.gov/Omim/. 
• 7 Schmidt B, Selmer T, Ingendoh A, Figura von K. A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.  Cell. 1995;  82 271-278