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Wajeeh Al Dekhail

Bio: Wajeeh Al Dekhail is an academic researcher. The author has contributed to research in topics: Bone disease & Bone mineral. The author has an hindex of 1, co-authored 2 publications receiving 3 citations.

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TL;DR: Despite the usual typical presentation, congenital chloride diarrhea poses multiple diagnostic challenges and educating neonatologists, general pediatricians, and pediatric surgeons regarding this diagnostic entity is essential.
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.

2 citations

Journal ArticleDOI
TL;DR: A similar patient who suffered from bone disease and had a favorable response to chelation therapy using deferoxamine is described, suggesting this may be a possible agent improving the life quality for the above mentioned group of patients.

1 citations


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TL;DR: This case of complicated CCD with necrotizing enterocolitis is presented, the first described case of CCD in Lithuania to the authors' knowledge, leading to the suggestion that this disease may be under diagnosed.
Abstract: Congenital chloride diarrhea (CCD) is a rare disease, manifesting with secretory diarrhea and life-threatening electrolyte imbalance during infancy. The early diagnosis of CCD is therefore necessary for the adequate treatment. The long-term prognosis of properly managed CCD is favorable. We present a case of complicated CCD with necrotizing enterocolitis. The child was born to nonconsanguineous parents of Lithuanian origin. CCD was suspected due to watery diarrhea, progressive hypochloremia, and high fecal chlorides. Despite oral electrolytes being prescribed, volvulus of small intestine developed requiring several surgical interventions. The clinical diagnosis of CCD was confirmed by molecular genetic testing of SLC26A3 , which revealed two Polish founder mutations in the DNA of the patient. The prevalence of CCD in Lithuanian neighbor Poland is approximately 1 in 200,000 live births. This is the first described case of CCD in Lithuania to our knowledge, leading to the suggestion that this disease may be underdiagnosed.

1 citations

Journal ArticleDOI
TL;DR: In this article, a case presentation takes you on a journey of diagnostic hurdles, covering a common neonatal presentation: abdominal distention with failure to pass meconium, followed by a presentation in infancy with metabolic, renal and electrolyte abnormalities.
Abstract: This case presentation takes you on a journey of diagnostic hurdles, covering a common neonatal presentation: abdominal distention with failure to pass meconium, followed by a presentation in infancy with metabolic, renal and electrolyte abnormalities. The article provides a systematic approach to the different clinical problems, allowing interpretation of results, making differential diagnoses and deciding on investigations and management.