Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome
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 o...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Nephrology |
| Online Access: | http://dx.doi.org/10.1155/2013/261907 |
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| author | Nasrollah Maleki Bahman Bashardoust Manouchehr Iranparvar Alamdari Zahra Tavosi |
| author_facet | Nasrollah Maleki Bahman Bashardoust Manouchehr Iranparvar Alamdari Zahra Tavosi |
| author_sort | Nasrollah Maleki |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9ecc302c0e4648d4a8cee170fb821e6c |
| institution | Kabale University |
| issn | 2090-6641 2090-665X |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Nephrology |
| spelling | doaj-art-9ecc302c0e4648d4a8cee170fb821e6c2025-02-03T06:14:07ZengWileyCase Reports in Nephrology2090-66412090-665X2013-01-01201310.1155/2013/261907261907Seizure, Deafness, and Renal Failure: A Case of Barakat SyndromeNasrollah Maleki0Bahman Bashardoust1Manouchehr Iranparvar Alamdari2Zahra Tavosi3Department of Internal Medicine, Imam Khomeini Hospital, Ardabil University of Medical Sciences, Ardabil, IranDepartment of Internal Medicine, Imam Khomeini Hospital, Ardabil University of Medical Sciences, Ardabil, IranDepartment of Internal Medicine, Imam Khomeini Hospital, Ardabil University of Medical Sciences, Ardabil, IranDepartment of Internal Medicine, Shohadaye Khalije Fars Hospital, Bushehr University of Medical Sciences, Bushehr, IranBarakat 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.http://dx.doi.org/10.1155/2013/261907 |
| spellingShingle | Nasrollah Maleki Bahman Bashardoust Manouchehr Iranparvar Alamdari Zahra Tavosi Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome Case Reports in Nephrology |
| title | Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome |
| title_full | Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome |
| title_fullStr | Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome |
| title_full_unstemmed | Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome |
| title_short | Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome |
| title_sort | seizure deafness and renal failure a case of barakat syndrome |
| url | http://dx.doi.org/10.1155/2013/261907 |
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