Hypocalcemia Induced Optic Neuropathy in a Patient with Undiagnosed Hypocalcemia, Deafness, and Renal Syndrome

Abstract

Hypocalcemia, deafness, and renal syndrome, also known as Barakat syndrome, is an autosomal dominant genetic condition characterized by hypocalcemia, sensorineural hearing loss, and renal dysplasia. Papilledema, which refers to optic disc swelling due to increased intracranial pressure caused by hypocalcaemia, has been reported in the literature. However, optic disc edema secondary to hypocalcemia-induced optic neuropathy with normal intracranial pressure is rare. In this case report, we present a rare case of hypocalcemia, deafness, and renal syndrome, possibly the first diagnosed based on the presence of hypocalcemia-induced optic disc edema. We suggest that patients with optic disc edema referred for further neurological investigations should have their serum calcium levels analyzed, as early diagnosis and correction of hypocalcemia may improve the signs and symptoms of optic nerve disease.

Keywords

• optic nerve diseases
• hypoparathyroidism
• hypocalcaemia
• barakat syndrome