Severe Vitamin D Deficiency — Rickets
A 12-year-old girl from Ukraine was hospitalized for evaluation of a history of long-bone fractures and failure to thrive. On initial presentation, she had hypocalcemia (calcium level, 6.7 mg per deciliter [1.7 mmol per liter]), a low 25-hydroxyvitamin D level (5 ng per milliliter [12 nmol per liter]), an elevated parathyroid hormone level (435 pg per milliliter), an elevated alkaline phosphatase level (546 U per liter), and a normal phosphorus level (4.1 mg per deciliter [1.3 mmol per liter]). These findings were consistent with vitamin D–deficient rickets. She also showed multiple sequelae of long-standing rickets, including costochondral swelling (rachitic rosary), severe thoracic scoliosis, and bilateral tibial–fibular valgus deformities (Panel A). In addition to a diet poor in vitamin D and calcium, the patient had a history of biliary dyskinesia, which may have contributed to poor absorption of fat-soluble vitamins, including vitamin D. The patient received nutritional counseling and was started on calcium and vitamin D supplementation. She underwent spinal fusion and bilateral tibial–fibular osteotomies with considerable improvement (Panel B). Thomas J. Caruso, M.D. Massachusetts General Hospital, Boston, MA Gennadiy Fuzaylov, M.D. Shriner's Hospital for Children, Boston, MA source: nejm.org
