Open AccessSeizure, deafness and renal agenesis: A rare case of barakat syndrome
Author(s) -
Tanmayjyoti Sau,
Argha Chatterjee,
Kaushik Ghosh,
Sandip Dey
Publication year - 2013
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/0972-2327.107707
Subject(s) - medicine , renal agenesis , status epilepticus , agenesis , hypoparathyroidism , epilepsy , calcification , sensorineural hearing loss , pediatrics , hearing loss , pathology , audiology , anatomy , surgery , psychiatry , kidney
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.