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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Abstract
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 |
| URI: | http://eprints.bpums.ac.ir/id/eprint/4182 |
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