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.
Mancini
G M
GM
Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands. mancini@kgen.fgg.eur.nl
van Diggelen
O P
OP
Huijmans
J G
JG
Stroink
H
H
de Coo
R F
RF
D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination; D013106:Sphingolipidoses / Q000175:diagnosis* / Q000235:genetics; D013433:Sulfoglycosphingolipids / Q000652:urine
D013433:Sulfoglycosphingolipids