ABSTRACT
Barakatsyndrome or HDR syndrome [Hypoparathyroidism, sensorineural deafness and renal disease] is an inherited condition. It's a very rare disease. Patients may present with tetany or convulsions due to hypocalcemia at any age. Deafness is usually bilateral and may range from mild to profound impairment. Renal disease has several manifestations. We report the cases of a girl [Ferdaous] and a boy [Taha] which are respectively of 16 years old and 6 years old. The girl only was born of intermarriage. Her brother and sister were treated for hypoparathyroidism. Both of our patients had sensorineural deafness and a nephropathy: a nephrotic syndrome in Ferdaous's case and a proteinury in Taha's case. The girl was treated for hypoparathyroidism since she was 12 while the boy was admitted in emergency for tonico-clonic seizures, reported to a profound hypocalcaemia. Hypoparathyroidism was confirmed by a very low parathormone rate. The endocrinal and cerebral radiological investigations were normal. By this case report, the authors remember the Barakat syndrome: its clinical and biological features, and its different possible progressions. The mode of inheritance is believed to be autosomal dominant. Mutations in the GATA3 gene, mapped to chromosome 10p [gene map locus 10p15, 10p15.1-p14], have been identified in several families with Barakat syndrome. Possibilities of antenatal diagnostic are offered to theses families