A Case of Severe Familial Vitamin D Deficiency

Abstract

Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the course of the disease with pseudohypoparathyroidism and 1-alpha-hydroxylase deficiency. They benefited from treatment with alfacalcidol and ossein-hydroxyapatite complex supplement which were further discontinued due to socioeconomic factors. At presentation after 2 years without treatment extremely low 25(OH)D levels were revealed. The patients' family history was remarkable for the same clinical features in mother and her Indian ancestry. Thus we describe an uncommon manifestation of severe vitamin D deficiency in a familial setting which emphasizes the necessity of vitamin D testing in calcium or parathyroid disorders.