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Abstract

CHARGE is a rare syndrome characterized by association of pathogenetically related multiple congenital anomalies with six main clinical features. In this case report, we present a 2-month-old female baby admitted to our hospital for surgical correction of her congenital heart anomalies (aortic coarctation, bicuspid aortic valve and patent ductus arteriosus). In addition, she had bilateral optic disc and choroid colobomas, operated bilateral choanal atresia, right facial nerve paralysis, ear anomaly and growth retardation to make the diagnosis of CHARGE syndrome. As children with CHARGE require multiple surgical corrections and the risk of congenital anomalies increases in subsequent pregnancies, it is important to recognize and inform the family about this syndrome as soon as possible. Early interventions for correction of accompanying congenital anomalies like choanal atresia can be life saving. Therefore, we wanted to highlight CHARGE syndrome and review the relevant literature

Keywords

• Congenital, Multiple anomalies, CHARGE

CHARGE sendromu tanısı alan 2 aylık bir bebek

Abstract

CHARGE sendromu patogenetik olarak ilintili konjenital anomalilerden oluşan ve 6 ana klinik özelliği bulunan nadir bir sendromdur. Burada hastanemize doğumsal kalp anomalilerinin (aort koarktasyonu, biküspid aortik kapak ve patent duktus arteriosus) cerrahi olarak düzeltilmesi için kabul edilen bir kız olguyu sunduk. Olgumuzun kalp anomalisine ek olarak bilateral optik disk ve koroid kolobomu, opere edilmiş çift taraflı koanal atrezisi, sağ fasiyal paralizisi, kulak anomalisi ve büyüme geriliği mevcuttu. Bu bulgularla hastamıza CHARGE sendromu tanısını koyduk. CHARGE sendromlu çocuklar çoklu cerrahi girişimlere ihtiyaç duydukları ve annenin sonraki gebeliklerinde de konjenital anomalili bebek riski arttığı için bu sendromu erken tanımak, aileyi bilgilendirmek ve genetik danışmanlık vermek oldukça önemlidir. Eşlik eden koanal atrezi ve kardiyak anomaliler gibi konjenital malformasyonlara erken müdahele etmek hayat kurtarıcı olacaktır. Bu nedenle, CHARGE sendromunu literatür eşliğinde yeniden hatırlatmak istedik.

Keywords

• Doğumsal, Çoklu anomali, CHARGE

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