Increased urinary excretion of pyridinoline and deoxypyridinoline in a girl with congenital contractural arachnodactyly.

Congenital contractural arachnodactyly (CCA) is caused by mutations in the gene for fibrillin 2 glycoprotein, a component of connective tissue. The causes of osteodystrophy or osteodysplasia in CCA are unknown. We report bone metabolism in a 28 month-old girl with CCA. Serum alkaline phosphatase and osteocalcin levels were 650 IU/l and 22 ng/ml at 1.5 months old (control: 530+/-65, 16.5+/-4.3), and 580 IU/l and 21 ng/ml at 28 months old (control: 465+/-58, 15.0+/-3.5), i.e. in upper-normal levels. The urinary pyridinoline and deoxypyridinoline levels were 1176 and 194 micromol/mol creatinine at 1.5 months old (control: 329+/-76, 63+/-12), and 407 and 111 micromol/mol cr at 28 months old (control: 231+/-49, 50+/-11), apparently higher than the control values. These findings may indicate that abnormal fibrillin may impair bone metabolism and cause the osteodystrophy or osteodysplasia in CCA.

Two cases of Winchester syndrome: with increased urinary oligosaccharide excretion.

We present our findings in two unrelated patients with the characteristic clinical and radiological features of the Winchester syndrome. The histological findings in gum and skin biopsies taken from one of the subjects, indicated excessive collagen turnover (active phagocytosis, an active endoplasmic reticulum, and an abundance of fibrillogranular material of probable collagen origin). An abnormal oligosaccharide was detected in urine from both patients which was identified as a trisaccharide containing one fucose and two galactose residues. The finding of this oligosaccharide may prove a useful marker in other cases of this rare syndrome and may help elucidate the underlying biochemical defect.