Multiple sulphatase deficiency presenting at birth.
A new case of multiple sulphatase deficiency with onset at birth is described. The patient had many dysmorphic features and hydrocephalus, similar to one other case with early onset described in the literature. The new patient differed from the other case in having chondrocalcificans congenita, heart abnormalities and an abnormal fold of tissue present between the laryngeal inlet and the oesophagus. Excessive mucopolysacchariduria was present and there was profound deficiency of all sulphatases examined in plasma, leucocytes and cultured skin fibroblasts.
D000015:Abnormalities, Multiple / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007830:Larynx / Q000002:abnormalities; D008297:Male; D009083:Mucopolysaccharidoses / Q000201:enzymology / Q000235:genetics*; D013429:Sulfatases / Q000172:deficiency*
D013429:Sulfatases