Agenesis of the left hemi-diaphragm, the cause of a neglected dyspnea in a 65-year-old female; case report and literature review

INTRODUCTION AND IMPORTANCE: In its complex way of embryonic evolvement, the diaphragmatic membrane can be involved with various disorders that may partially or entirely not develop. Agenesis of the diaphragm is the term that refers to this maldevelopment. It is the more severe form of congenital diaphragmatic hernia in which intra-abdominal viscera protrude into the thoracic cavity, causing respiratory and gastrointestinal problems. Most neonates delivered with diaphragmatic agenesis do not live more than hours to days of the severity of lung immaturity. However, less than 20 affected cases have been reported so far that survived to childhood and even their adulthood period treated surgically or conservatively. We have reported a case of neglected left hemi-diaphragmatic agenesis for more than six decades, then reviewed all adult diaphragmatic agenesis cases available in the literature for 74 years. CASE PRESENTATION: A 65-year-old female complaining of worsened dyspnea during the last four months, a chronic history of short breath since her fourth decade of life, and recent surgery with the diagnosis of a diaphragmatic hernia, underwent the thoracotomy twice in which unilateral diaphragmatic hernia was diagnosed then repaired. CLINICAL DISCUSSION: For the recurrence of her symptoms, she underwent a second thoracotomy, in which the final diagnosis of left hemi-diaphragmatic agenesis was made. A dual mesh patch constructed the defect. The post-operation period was uneventful. We only found 17 cases of adult hemi or bilateral agenesis of the diaphragm reviewing the main medical literature such as Medline and Web of Science. The conservative and operative treatment managements were equal for eight patients in each of them. One of them refused therapy, and one was non-declared in the study. As in congenital diaphragmatic hernia, the most typical side was the left in 10 out of 18. The most complaints patients had followed by coughing and bowel obstruction was dyspnea and dyspepsia. CONCLUSION: Near the total of the diaphragmatic agenesis cases die in the neonatal population; remained undiagnosed or during an autopsy found. However, typically rare in the adult population, respiratory and digestive disorders are the most prevalent. It is difficult initially because diagnosing is intraoperatively, and no modality is available to help the examiner physician diagnose perinatally.