Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome

Maleki, Nasrollah and Bashardoust, Bahman and Iranparvar Alamdari, Manouchehr and Tavosi, Zahra (2013) Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome. Ann Indian Acad Neurol, 16 (1). pp. 91-93.


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Etiologic diagnosis of seizure requires proper consideration of apparently unrelated clinical features of the patient. Here, we report the case of a patient of status epilepticus with moderate-to-severe bilateral sensorineural deafness. Investigations showed extensive intracranial calcification, hypoparathyroidism and unilateral renal agenesis. The features were consistent with Barakat syndrome, a rare developmental disorder associated with mutations in the GATA3 gene. To the best of our knowledge, this is the first reported case of Barakat syndrome from India.

Item Type: Article
Additional Information: indexer:samaneh vafadar
Uncontrolled Keywords: Deafness, GATA3 gene, hypoparathyroidism, renal agenesis, seizure
Subjects: R Medicine > R Medicine (General)
Divisions: Faculty of Medicin
Depositing User: Unnamed user with username karvarz1
Date Deposited: 19 Dec 2015 18:36
Last Modified: 19 Dec 2015 18:36

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