Barakat Syndrome in a Child: An Uncommon Cause of Hypocalcemic Tetany – A Case Report with Review of Literature

Abstract Background: Barakat syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene, manifesting with a combination of hypoparathyroidism, sensorineural deafness, and renal dysplasia. Clinical Description: A 12-year-old girl presented with sudden onset carpopedal spasms associated with a history of hearing loss perceived for the last 3 months, along with a past history of intermittent seizures. Examination showed normal sensorium, with malnutrition, pallor, and positive Trousseau’s and Chvostek’s signs. Management and Outcome: Investigations revealed hypocalcemia, hyperphosphatemia, hypoparathyroidism, and Vitamin D deficiency. Pure tone audiometry showed a moderate mixed hearing loss, ultrasonography showed right renal agenesis, whereas cranial imaging showed bilateral symmetrical calcifications in the white matter of the frontoparietal lobe, gangliocapsular region, thalamus, dentate nucleus, and posterior lobe of the cerebellum. Genetic analysis confirmed a likely pathogenic, heterozygous missense variant in the GATA3 gene. The patient responded well to calcium supplementation and calcitriol. Conclusion: This case creates awareness regarding Barakat syndrome as a possible cause of hypocalcemic tetany. A thorough history and evaluation for associated findings as well as genetic analysis can help in delineating the diagnosis.