Familial hypoparathyroidism, renal insufficiency, nephrocalcinosis and growth failure : a rare case of Barakat syndrome

الملخص EN

Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation in the GATA3 gene located at the short arm of chromosome 10.

The exact prevalence of this disorder is not known but seems to be very rare, with only about a dozen cases reported in the literature.1 Here, we report the case of a 4-monthold boy who was admitted to Damascus Children’s Hospital for generalized spasms and blockade of right eye ball movements due to hypocalcemia.

Medical history revealed that he was already diagnosed with congenital hypoparathyroidism at the first month of life with suspicion of DiGeorge syndrome.

By the age of 32 months, he developed an unexplained case of renal failure and a serious developmental delay.

The completion of the clinical and laboratory findings of the patient by the age of 32 months, lead us to diagnose the case as Barakat syndrome, as the first case of Barakat syndrome reported in Syria