Congenital rickets caused by maternal vitamin D deficiency

Abstract

The cases of four newborn infants with congenital rickets are reported. All infants were native Canadian: three were Cree and one was Inuit. One had a narrow chest and pulmonary hypoplasia, two had clinical and radiological signs of rickets with craniotabes, thickened wrists, and prominent costochondral junctions, and one had perinatal asphyxia and hydrops. All had hypocalcemia, hypophosphatemia and secondary hyperparathyroidism. Serum 25-hydroxyvitamin D levels were low in three of the infants. The four mothers had evidence of vitamin D deficiency. All infants recovered following treatment with 5000 IU oral vitamin D daily.

Keywords: 25-hydroxyvitamin D; Congenital rickets; Hyperparathyroidism; Hypocalcemia.

Figure 1)

Chest (A, B, C) and lower limb (D, E, F, G) radiographs of patient 1. Marked osteoporosis, a very narrow chest and thin ribs, fraying of the ends of the long bones and subperiosteal bone resorption were evident at birth (A,D). Following treatment with 5000 IU vitamin D daily, radiographs at one month of age (E) showed fractures at the ends of the long bones with resolution of the subperiosteal bone resorption. Improved mineralization and healing of rickets were evident by four months of age (B,F). The bones were considered normal at 15 months (C) and three years of age (G)