Vassiliki Syriou, Asimina Kolitsa, Lamprini Pantazi, Dimitrios Pikazis
A 47-year old man with idiopathic hypoparathyroidism (IHP), presented as severe myopathy and skin rash is described. The serum muscle enzymes were increased. After treatment with calcium and vitamin D, the clinical condition improved, the skin rash gradually disappeared, and the muscle enzymes decreased and remained within the normal range thereafter.
Anna Papadopoulou, Evangelia Gole, Katerina Melachroinou, Theoni Trangas, Evaggelia Bountouvi, Anastasios Papadimitriou
OBJECTIVE: Autosomal dominant hypocalcemia (ADH) is a rare familial or sporadic syndrome associated with activating mutations in the calcium sensing receptor (CaSR) gene. The aim of this study was to assess the functional significance of a novel CaSR mutation and, moreover, to present the clinical characteristics and the bone mineral density (BMD) progression from early childhood to late puberty in a patient with …