Right-side diaphragmatic eventration with atrial septa defect and cleft palate in an infant: a case report

Journal of Medical Case Reports

Case Report

Fazal Rahman Rahmani¹  Abdul Hakim Mukhlis²  Mansoor Aslamzai²  Basir Ahmad Froogh²  Turyalai Hakimi³ 

[1]Department of Abdominal Surgery, Kabul University of Medical Sciences, 3rd District, 1003, Kabul, Afghanistan

[2]Department of Neonatology, Kabul University of Medical Sciences, 3rd District, 1003, Kabul, Afghanistan

[3]Department of Pediatrics Surgery, Kabul University of Medical Sciences, 3rd District, 1003, Kabul, Afghanistan

关键词: Diaphragmatic eventration;    ASD and cleft palate;   

DOI  :  10.1186/s13256-023-03910-4

 received in 2022-10-29, accepted in 2023-03-20,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundCongenital right-side diaphragmatic eventration with atrial septal defect and cleft palate is a rare congenital anomaly.Case presentationWe present a rare case of congenital right-sided diaphragmatic eventration along with atrial septal defect, cleft palate, pneumonia, and undernutrition in a 3-month-old Asian and Afghan girl. The clinical features were observed in the third month of life, and the diagnosis of these anomalies was established by the patient’s history, physical examination, chest X-ray, thoracic computed tomography, and echocardiography. Her condition was good after supportive treatment. Since the index case of diaphragmatic eventration was associated with congenital heart disease, cleft palate, and parental consanguinity, a genetic basis may have played an important role in the pathogenesis of this anomaly.ConclusionEventration of the diaphragm may be diagnosed in early infancy, and genetic factors may contribute to its pathogenesis.

【 授权许可】

CC BY   
© The Author(s) 2023

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