No abstract

A 4-month-old boy with the infantile form of hypophosphatasia was followed for 9 months with measurements of serum calcium, phosphate, alkaline phosphatase and various vitamin D metabolites, together with urinary excretion of cyclic AMP. During the initial hypercalcemic stage the serum concentration of 25-hydroxyvitamin D was normal. Urinary cyclic AMP was low and the serum concentration of the dihydroxymetabolites of vitamin D were appropriate to the high serum calcium with low 1,25-(OH)2D and relatively high 24,25(OH)2D and 25,26(OH)2D levels. Due to restrictions of the vitamin D intake and lack of exposure to sun he developed vitamin D-deficiency rickets at 9 months of age with very low serum concentration of 25-hydroxyvitamin D and markedly increased urinary excretion of cyclic AMP. Following vitamin D treatment the serum level of 1,25(OH)2D showed a brisk rise to a considerably elevated value. Initially the serum concentration of alkaline phosphatase was well below the normal range, rose markedly during the stage of active rickets and returned to the characteristic low levels of hypophosphatasia with healing of the rickets.

The clinical and radiological features of a dominant bone disorder found in six members of the same family are described. The bone disorder was mainly characterized by endosteal cortical thickening of long tubular bones and bowing of the weight-bearing ones. The clinical symptoms were waddling gait, muscle weakness and leg pains, and there was a tendency to fractures. All affected individuals had icthyosis of slight or moderate degree.

Four boys, each with urethral obstruction caused by a prolapsed simple ureterocele (from a non-duplicated collecting system) are reported. This is an unusual complication of an uncommon anomaly.

A duodenal duplication almost as large as the stomach proper was found along the greater curvature of the stomach in a 6-month-old Caucasian girl. There was a wide communication with the proximal part of the duodenum, from which the duplication blood supply originated. The duplication and the stomach shared the serosal lining, but had individual, full thickness walls. The duplication was removed in toto, and the communication with the duodenum was closed by transverse suture. The luminal lining of the duplication consisted of corpus type of gastric mucosa. There was a 1 X 1 cm mucosal ulceration in the region of which respiratory tract elements were found. The condition is interpreted as a duodenal duplication with ectopic gastric mucosa and respiratory tract elements. To our knowledge, the occurrence of respiratory tract elements in an intestinal duplication BELOW the diaphragm is being reported for the first time. It offers a challenging explanation for the ulceration found within this duplication.