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Volume 3, Issue 3 (8-2017)
IJCA 2017, 3(3): 13-15 |
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Bahrami A, Haghighi Aski B, Manafi Anari A, Zare Mahmood Abadi R, Talebi S, Kalantar S. Digeorge syndrome presenting with uncommon cardiac anomaly and hepatomegaly. IJCA 2017; 3 (3) :13-15
URL: http://ijca.iums.ac.ir/article-1-112-en.html
URL: http://ijca.iums.ac.ir/article-1-112-en.html
Ahmad Bahrami 
, Behzad Haghighi Aski , Ali Manafi Anari , Ramin Zare Mahmood Abadi , Saeid Talebi , Sara Kalantar
, Behzad Haghighi Aski , Ali Manafi Anari , Ramin Zare Mahmood Abadi , Saeid Talebi , Sara Kalantar
Pediatrics Resident, Ali Asghar Hospital
Abstract: (2446 Views)
Digeorge syndrome is caused by microdeletion of a large region of chromosome 22q11.2 lead to the abnormal development of the third and fourth pharyngeal pouches. This syndrome is characterized by hypoparathyroidism, cellular immune deficiency secondary to thymic hypoplasia, congenital heart disease and dysmorphic facial features. In this case report, we describe a 4month old boy who presented with respiratory distress due to
cardiac anomaly (Large PDA) that was hypocalcemic, thrombocytopenic, lymphopenic and had hepatomegaly
and history of seizure in neonatal period.
Because of recurrent opportunistic infection, this infant was suspected of immune deficiency. He died after about 4 month hospitalization due to severe sepsis and multi organ failure feature. Genetic study confirmed chromosomal 22q11.2 deletion and Digeorge syndrome after his death.
cardiac anomaly (Large PDA) that was hypocalcemic, thrombocytopenic, lymphopenic and had hepatomegaly
and history of seizure in neonatal period.
Because of recurrent opportunistic infection, this infant was suspected of immune deficiency. He died after about 4 month hospitalization due to severe sepsis and multi organ failure feature. Genetic study confirmed chromosomal 22q11.2 deletion and Digeorge syndrome after his death.
Type of Study: Original Research |
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