| CASE REPORT |
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| Year : 2013 | Volume
: 16
| Issue : 1 | Page : 91-93 |
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Seizure, deafness and renal agenesis: A rare case of barakat syndrome
Tanmayjyoti Sau, Atri Chatterjee, Kaushik Ghosh, Sandip Dey
Department of Medicine, Nilratan Sircar Medical College, Kolkata, WB, India
Correspondence Address:
Atri Chatterjee
18/1E, D.P.P. Road, Kolkata, West Bengal - 700 047
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0972-2327.107707
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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. |
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