title: Seizure, deafness and renal agenesis: A rare case of barakat syndrome.
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.
authors: Department of Medicine, Nilratan Sircar Medical College, Kolkata, WB, India.
authors: Tanmayjyoti
authors: T
authors: Sau
authors: Atri
authors: A
authors: Chatterjee
authors: Kaushik
authors: K
authors: Ghosh
authors: Sandip
authors: S
authors: Dey
keywords: Deafness; GATA3 gene; hypoparathyroidism; renal agenesis; seizure
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