Case Report
Volume 9 Issue 5 - 2020
Seizure in a 17-Month-Old Girl who Developed Barakat Syndrome
Daniel Zamanfar1*, Mobin Ghazaiean2 and Somayeh Rostami Maskopaii3
1Diabetes Research Center, Mazandaran University of Medical Sciences, Sari, Iran
2Mazandaran University of Medical Sciences, Sari, Iran
3Educational Research, Mazandaran University of Medical Sciences, Sari, Iran
*Corresponding Author: Daniel Zamanfar, Diabetes Research Center, Mazandaran University of Medical Sciences, Sari, Iran
Received: January 07,2020; Published: April 29, 2020




Abstract

Barakat syndrome is a rare autosomal dominant disease with classical triad that can occur at different ages. The classic triad of the disease includes not only hypoparathyroidism, sensorineural deafness and renal abnormalities but also nonspecific symptoms due to genetic abnormality. The cause of this syndrome is the mutation in the GATA3 gene, which is the structural displacement of the gene from its natural location. In preliminary laboratory studies, Phosphorus, Calcium and iPTH were 6.8, 7 mg/dl and 3.7 pg/ml, respectively. This study reported a 17-month-old girl presenting with tonic-clonic seizure, hypocalcemia and hyperphosphatemia.

Keywords: Seizure; Barakat Syndrome; Hypocalcemia; Renal Aplasia

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Citation: Daniel Zamanfar., et al. “Seizure in a 17-Month-Old Girl who Developed Barakat Syndrome”. EC Paediatrics 9.5 (2020): 01-05.

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