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

Abstract Background Congenital right-side diaphragmatic eventration with atrial septal defect and cleft palate is a rare congenital anomaly. Case presentation We present a rare case of congenital right-sided diaphragmatic eventration along with atrial septal defect, cleft palate, pneumonia, and unde...

Full description

Bibliographic Details
Main Authors: Mansoor Aslamzai, Fazal Rahman Rahmani, Turyalai Hakimi, Abdul Hakim Mukhlis, Basir Ahmad Froogh
Format: Article
Language:English
Published: BMC 2023-04-01
Series:Journal of Medical Case Reports
Subjects:
Online Access:https://doi.org/10.1186/s13256-023-03910-4
_version_ 1797840987138031616
author Mansoor Aslamzai
Fazal Rahman Rahmani
Turyalai Hakimi
Abdul Hakim Mukhlis
Basir Ahmad Froogh
author_facet Mansoor Aslamzai
Fazal Rahman Rahmani
Turyalai Hakimi
Abdul Hakim Mukhlis
Basir Ahmad Froogh
author_sort Mansoor Aslamzai
collection DOAJ
description Abstract Background Congenital right-side diaphragmatic eventration with atrial septal defect and cleft palate is a rare congenital anomaly. Case presentation We 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. Conclusion Eventration of the diaphragm may be diagnosed in early infancy, and genetic factors may contribute to its pathogenesis.
first_indexed 2024-04-09T16:23:36Z
format Article
id doaj.art-1f4bb0bcd4cf4b87bb1054a70135e17d
institution Directory Open Access Journal
issn 1752-1947
language English
last_indexed 2024-04-09T16:23:36Z
publishDate 2023-04-01
publisher BMC
record_format Article
series Journal of Medical Case Reports
spelling doaj.art-1f4bb0bcd4cf4b87bb1054a70135e17d2023-04-23T11:18:28ZengBMCJournal of Medical Case Reports1752-19472023-04-011711510.1186/s13256-023-03910-4Right-side diaphragmatic eventration with atrial septa defect and cleft palate in an infant: a case reportMansoor Aslamzai0Fazal Rahman Rahmani1Turyalai Hakimi2Abdul Hakim Mukhlis3Basir Ahmad Froogh4Department of Neonatology, Kabul University of Medical SciencesDepartment of Abdominal Surgery, Kabul University of Medical SciencesDepartment of Pediatrics Surgery, Kabul University of Medical SciencesDepartment of Neonatology, Kabul University of Medical SciencesDepartment of Neonatology, Kabul University of Medical SciencesAbstract Background Congenital right-side diaphragmatic eventration with atrial septal defect and cleft palate is a rare congenital anomaly. Case presentation We 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. Conclusion Eventration of the diaphragm may be diagnosed in early infancy, and genetic factors may contribute to its pathogenesis.https://doi.org/10.1186/s13256-023-03910-4Diaphragmatic eventrationASD and cleft palate
spellingShingle Mansoor Aslamzai
Fazal Rahman Rahmani
Turyalai Hakimi
Abdul Hakim Mukhlis
Basir Ahmad Froogh
Right-side diaphragmatic eventration with atrial septa defect and cleft palate in an infant: a case report
Journal of Medical Case Reports
Diaphragmatic eventration
ASD and cleft palate
title Right-side diaphragmatic eventration with atrial septa defect and cleft palate in an infant: a case report
title_full Right-side diaphragmatic eventration with atrial septa defect and cleft palate in an infant: a case report
title_fullStr Right-side diaphragmatic eventration with atrial septa defect and cleft palate in an infant: a case report
title_full_unstemmed Right-side diaphragmatic eventration with atrial septa defect and cleft palate in an infant: a case report
title_short Right-side diaphragmatic eventration with atrial septa defect and cleft palate in an infant: a case report
title_sort right side diaphragmatic eventration with atrial septa defect and cleft palate in an infant a case report
topic Diaphragmatic eventration
ASD and cleft palate
url https://doi.org/10.1186/s13256-023-03910-4
work_keys_str_mv AT mansooraslamzai rightsidediaphragmaticeventrationwithatrialseptadefectandcleftpalateinaninfantacasereport
AT fazalrahmanrahmani rightsidediaphragmaticeventrationwithatrialseptadefectandcleftpalateinaninfantacasereport
AT turyalaihakimi rightsidediaphragmaticeventrationwithatrialseptadefectandcleftpalateinaninfantacasereport
AT abdulhakimmukhlis rightsidediaphragmaticeventrationwithatrialseptadefectandcleftpalateinaninfantacasereport
AT basirahmadfroogh rightsidediaphragmaticeventrationwithatrialseptadefectandcleftpalateinaninfantacasereport