Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome

Abstract

Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: Herein, we presented a 20-month-old female with seizure and microcephaly, congenital left kidney dysplasia, hypoparathyroidism, and bilateral sensorineural deafness. Her laboratory tests were consistent with hypoparathyroidism, and the chromosomal study revealed a deletion in chromosome 10. The patient was diagnosed as a case of Barakat syndrome based on her clinical and laboratory tests. The microarray-based comparative genomic hybridization study of the patient was compatible with the monosomy of 10p15.3p13 and trisomy of 12p13.33p13.33.Conclusion: It is important to be aware of rare inherited conditions like Barakat syndrome (HDR syndrome) in a patient with abnormal presentations, such as seizure, neurodevelopmental delay, kidney defects associated with hearing loss, and clinical abnormalities associated with hypoparathyroidism.