%0 Journal Article
%T Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome
%A Nasrollah Maleki
%A Bahman Bashardoust
%A Manouchehr Iranparvar Alamdari
%A Zahra Tavosi
%J Case Reports in Nephrology
%D 2013
%I Hindawi Publishing Corporation
%R 10.1155/2013/261907
%X Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature. Here, we report a case of 58-year-old man from Ardabil who presented with seizure due to hypocalcemia. Further history revealed bilateral deafness. Audiogram confirmed sensorineural hearing loss of both sides. His laboratory data were consistent with hypoparathyroidism and renal failure. He was diagnosed to have Barakat syndrome based on his clinical and laboratory data. In conclusion, we need to be aware of rare inherited conditions in a patient with abnormal physical and laboratory findings even though their initial presentation was seizure and hypocalcemia. 1. Introduction Barakat syndrome, also known as hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome, is a rare autosomal dominant disorder [1]. The syndrome was first noted in siblings with hypocalcemia and proteinuria [2]. Mutations in GATA3, a gene localized to the chromosome region 10p14-15, have been detected in families affected by the syndrome [3, 4]. GATA3 is a transcription factor that is involved in the embryonic development of the parathyroid glands, kidneys, inner ears, thymus, and central nervous findings. Similar clinical findings were reported in families with an apparent autosomal recessive mode of inheritance [5, 6]. In this report, we demonstrate a case of Barakat syndrome presented with seizure, hypoparathyroidism, and bilateral sensorineural deafness. 2. Case Report A 58-year-old man from Ardabil was admitted to our hospital with generalized tonic-clonic seizure. The patient was a known case of chronic kidney disease 2 years ago. He had been experiencing recurrent episodes of seizure for 20 days before his admission. Further history revealed progressive hearing loss for the last 10 years but there was no developmental delay. He had a family history of kidney disease in siblings, which in their renal biopsy were reported to have FSGS. His vital signs were within the normal range. Neurological examination showed depression of deep tendon reflexes in both upper and lower extremities. Chvostek¡¯s and Trousseau¡¯s signs were negative. The initial laboratory studies showed serum calcium level: 5.3£¿mg/dL and serum phosphorus level: 7.2£¿mg/dL. The serum intact-PTH level measured by immunoradiometric assay (IRMA) was 5£¿ng/L (normal
%U http://www.hindawi.com/journals/crin/2013/261907/