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Surgical consequences in infants with delayed diagnosis of congenital chloride diarrhea
Haifa Al Awadhi1, Ali Al Mehaidib, Khalid AlSaleem
1Department of Pediatric Gastroenterology, Hepatology and Clinical Nutrition, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. h_awadhi@hotmail.com.
Insights
Congenital chloride diarrhea (CCD) presents diagnostic challenges, mimicking intestinal obstruction in newborns. Early recognition and education are crucial to prevent unnecessary surgeries and improve patient outcomes.
Area of Science:
- Pediatric Gastroenterology
- Neonatology
- Medical Genetics
Background:
- Congenital chloride diarrhea (CCD) is a rare genetic disorder affecting intestinal ion transport.
- It presents with characteristic watery, high-chloride diarrhea, often mistaken for other neonatal conditions.
- The condition has a notable incidence in specific populations, such as Saudi Arabia (1/5000).
Observation:
- CCD can present atypically, posing diagnostic challenges for clinicians.
- Symptoms like abdominal distension and urine-like diarrhea can mimic intestinal obstruction.
- Misdiagnosis can lead to unnecessary and potentially harmful surgical interventions.
Findings:
- Five cases of congenital chloride diarrhea are presented, highlighting diagnostic difficulties.
- The study emphasizes the importance of differentiating CCD from surgical emergencies like intestinal obstruction.
- Delayed diagnosis increases the risk of morbidity due to inappropriate management.
Implications:
- A high index of suspicion for CCD is essential in neonates with unexplained watery diarrhea and abdominal distension.
- Educating healthcare professionals, including neonatologists, pediatricians, and surgeons, is vital for timely diagnosis.
- Prompt and accurate diagnosis of CCD can prevent surgical complications and improve infant health outcomes.
Abstract:
Despite the usual typical presentation, congenital chloride diarrhea (CCD) poses multiple diagnostic challenges. It has an incidence of 1/5000 in Saudi Arabia. CCD can mimic intestinal obstruction and result in avoidable surgical interventions. Contributing factors are abdominal distension and the watery (urine-like) diarrhea that is often interpreted as delayed passage of meconium. Surgical interventions would unnecessarily increase the morbidity. Therefore, a high index of suspicion and educating neonatologists, general pediatricians, and pediatric surgeons regarding this diagnostic entity is essential. Here we describe five such cases.
