Dystrophic calcification, cataracts, and enamel hypoplasia due to long-standing, privational vitamin D deficiency.
A 19-year-old Indian girl presenting with intermittent tetany, enamel hypoplasia, bilateral cataracts, and calcification of the basal ganglia is described. Dental evidence suggested a calcification defect had been present from the age of 2-3 years. Hypocalcemia, hyperphosphatemia, and low levels of immunoassayable parathyroid hormone (iPTH), urinary cAMP, 25-hydroxyvitamin D, and 1,25-dihydroxyvitamin D were documented, suggesting hypoparathyroidism with vitamin D deficiency. A bone biopsy showed osteomalacia. Following ultraviolet irradiation and oral calciferol therapy, a symptomatic and biochemical response typical of privational vitamin D deficiency occurred. iPTH levels rose to normal and remained normal following withdrawal of treatment, indicating that the clinical features were entirely due to long-standing vitamin D deficiency.
D000328:Adult; D001480:Basal Ganglia Diseases / Q000209:etiology; D002114:Calcinosis / Q000209:etiology; D002118:Calcium / Q000097:blood; D003744:Dental Enamel Hypoplasia / Q000209:etiology; D003951:Diagnostic Errors; D004388:Dura Mater; D005260:Female; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis*; D010281:Parathyroid Hormone / Q000097:blood; D014808:Vitamin D Deficiency / Q000150:complications / Q000175:diagnosis*
D010281:Parathyroid Hormone; D002118:Calcium