مجله دانشگاه علوم پزشکی قم

Background and Objectives: HDR (hypoparathyroidism, deafness and renal dysplasia) is an autosomal dominant syndrome due to mutation in the glutamyl aminotransferase. We report a deaf child with hypoparathyroidism.

Case Report

The patient was a 6.5 year-old boy whose hearing impairment had been detected in infancy and cochlear implant had been done at 3.5 years of age. He had no problem until one week before admission, when he faced carpopedal spasm and eyes-staring, and he was then admitted to the hospital due to his status of epilepticus.

Brain CT scan showed calcifications in frontal lobe and basal ganglia. Hypocalcemia , hyperphosphatemia and low parathyroid hormone level were detected in laboratory data. Kidney sonography was normal. Concerning negative family history and normal kidneys, autosomal recessive form of disease without renal involvement or new mutation might be suggested in this patient; therefore, in deaf patients, hypoparathyroidism would be taken into account .