Seizure, Deafness, and Renal Failure : A Case of Barakat Syndrome
Joint Authors
Tavosi, Zahra
Bashardoust, Bahman
Iranparvar Alamdari, Manouchehr
Maleki, Nasrollah
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-10-22
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Maleki, Nasrollah& Bashardoust, Bahman& Iranparvar Alamdari, Manouchehr& Tavosi, Zahra. 2013. Seizure, Deafness, and Renal Failure : A Case of Barakat Syndrome. Case Reports in Nephrology،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-458415
Modern Language Association (MLA)
Maleki, Nasrollah…[et al.]. Seizure, Deafness, and Renal Failure : A Case of Barakat Syndrome. Case Reports in Nephrology No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-458415
American Medical Association (AMA)
Maleki, Nasrollah& Bashardoust, Bahman& Iranparvar Alamdari, Manouchehr& Tavosi, Zahra. Seizure, Deafness, and Renal Failure : A Case of Barakat Syndrome. Case Reports in Nephrology. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-458415
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-458415