Unusual clinical presentation in two cases of multiple sulfatase deficiency

Multiple sulfatase deficiency (MSD) is an inborn error of metabolism that c ombines the clinical features of late infantile metachromatic leukodystroph y and mucopolysaccharidosis. The characteristic biochemical abnormality is a reduction in the activities of several sulfatases, with consequent tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, an d steroid sulfates. In this study we present two unusual cases of MSD with variable enzymatic deficiency of arylsulfatases A, B, and C. Both patients had ichthyosis, broad thumbs and index fingers, an unusually slow progressi on of the neurologic symptoms, and lacked the hepatosplenomegaly that is ty pical of MSD. Olivopontocerebellar atrophy was present and one patient had a large retrocerebellar cyst. Mucopolysaccharides were not detected in the urine from either subject. Leukocyte arylsulfatase A activity in patient 1 was 0.46 nmol/mg protein/hr and in patient 2 was 0.0 nmol/mg protein/hr (no rmal 0.7-5.0 nmol/mg protein/hr). Leukocyte arylsulfatase B activity in pat ient 1 was 24 nmol/mg protein/hr and in patient 2 was 22 nmol/mg protein/hr (normal 115-226 nmol/mg protein/hr). Leukocyte arylsulfatase C in patient 1 was 0.30 pmol/mg protein/hr and in patient 2 was 0.28 pmol/mg protein/hr (normal 0.84 pmol/mg protein/hr). In conclusion, these two patients with MS D had mild clinical presentations not previously reported and variable enzy matic deficiency of arylsulfatases A, B, and C.