A CASE OF (HDR SYNDROME) BARAKAT SYNDROME WITH AN ASSOCIATED VITAMIN D DEFICIENCY

Abstract

HDR syndrome ( Hypoparathyroidism, Deafness, Renal dysplasia) is a rare syndrome initially reported by    Barakat in 1977. It is a clinical entity characterized by the triad of hypoparathyroidism, nerve deafness and renal dysplasia caused commonly by mutation of GATA 3 gene located at chromosome 10p15(1). Exact incidence is not known but it is a very rare condition with only few cases reported in literature(2). Here we report a 9years old boy who presented with  recurrent afebrile seizures. Further investigations showed hypocalcaemia and hypoparathyroidism in the child. Imaging of the abdomen showed abnormalities of the kidney but renal parameters were normal. Audiometry showed mild   sensorineural hearing loss thus confirming our diagnosis.