Juvenile sulfatidosis (Austin type) or multiple sulfatase deficiency i
s an extremely rare autosomal recessive disorder affecting the activit
y of many sulfatases: arylsulfatase A, several mucopolysaccharide sulf
atases, and steroid sulfatase. Certain aspects of the clinical phenoty
pe can be attributed mainly to a deficiency of one specific sulfatase,
Most patients develop metachromatic leukodystrophy caused by arylsulf
atase A deficiency, dysostosis multiplex by mucopolysaccharide sulfata
se deficiency, and ichthyotic skin by steroid sulfatase deficiency. We
describe a 7-year-old boy with developmental delay from 7 months of a
ge, progressive spastic quadriparesis, and coarse facial features, By
27 months of age, an ichthyotic rash had developed on the limbs, trunk
, and scalp, A skin biopsy specimen revealed hyperkeratosis with a nor
mal granular layer, The diagnosis of multiple sulfatase deficiency was
demonstrated by measuring sulfatase activities in fresh leukocytes: t
here were large deficiencies of arylsulfatase A and B plus reduced ary
lsulfatase C, The ichthyosis associated with multiple sulfatase defici
ency has an autosomal recessive inheritance, is caused by steroid sulf
atase deficiency, and the scaling is sometimes milder than in X-linked
recessive ichthyosis. This could reflect the residual activity of ste
roid sulfatase in some cases.