Flexible Sigmoidoscopy Utility in the Diagnosis of Pediatric Gastrointestinal Disorders.

AIM:  Although flexible sigmoidoscopy (FS) is utilized in children for the diagnosis of pediatric gastrointestinal conditions, such as inflammatory bowel disease and juvenile polyp disorders, the diagnostic yield of FS in pediatric patients is unknown. MATERIALS AND METHODS:  We retrospectively reviewed FS cases in children under 18 years of age over a five-year period at our institution. Indications for the procedure, endoscopic visual findings, histologic findings, final diagnosis, and any management changes based on FS findings were included. RESULTS:  A total of 354 cases were included in the analysis for which 40 cases (11.3%) had abnormal visual findings, 48 cases (13.6%) had abnormal histologic findings, and 13 cases (3.7%) had both abnormal endoscopic visual and histologic findings. Of the 88 cases with abnormal visual and/or histologic abnormalities, only the results of 34 of these FS cases led to a change in management based on endoscopic findings (9.6%). Most patients with a non-diagnostic FS had a final diagnosis of functional abdominal pain; most patients with a diagnostic FS had a final diagnosis of colitis, not otherwise specified. CONCLUSION:  Our findings suggest that FS is not a helpful diagnostic endoscopic intervention in pediatric patients, especially in children with reassuring history and physical exam findings.

Clinical diagnostic predictive score for Meckel diverticulum.

BACKGROUND/PURPOSE: Meckel diverticulum (MD) is present in 2% of the population. Many practitioner feel the diagnosis relies upon technetium-99 m pertechnetate scintigraphy. When negative, patients undergo additional invasive procedures delaying definitive therapy. This study aims to identify features of bleeding MD and generate a risk score, which could preclude unnecessary testing and facilitate earlier operation. METHODS: All patients <18-years-old who presented with hematochezia from 2005 to 2015 were identified. MD diagnosis was based on histopathology of operative tissue. Controls were patients with hematochezia undergoing colonoscopy. A points system was used generate a risk score. RESULTS: A total of 215 patients presented with hematochezia out of which 42 patients with MD were identified. Predictive variables included infant (OR 7, 95%CI 2-29) and toddler (OR 20, 95%CI 8-50) age groups, duration <6 days (OR 18, 95%CI 8-43), presence of large blood volume (OR 16, 95% CI 7-36), hemoglobin <7 g/dL (OR 6, 95% CI 3-15) and transfusion requirement (OR 16, 95% CI 7-38). A score of 6 or higher is highly suggestive of MD. CONCLUSIONS: This scoring system identifies children with bleeding MD who may benefit from exploratory surgery without undergoing endoscopy. This novel scoring system can be applied to provide accurate clinical diagnosis, reduce unnecessary tests and allow prompt surgical management.

Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report.

BACKGROUND: Congenital dyserythropoietic anemia type 1 (CDA1) is an autosomal recessive disorder of ineffective erythropoiesis, resulting in increased iron storage. CDA1 is usually diagnosed in children and adolescents but can rarely present in the neonatal period with severe anemia at birth. There are no prior reports of neonatal liver histologic findings of CDA1. We report a case of CDA1 in a newborn presenting with severe anemia, cholestasis and liver failure, where liver biopsy helped confirm the diagnosis. CASE SUMMARY: A term infant, born via emergency Cesarean section, presented with cholestasis, hepatosplenomegaly, multiorgan failure and severe anemia at birth. A prior pregnancy was significant for fetal demise at 35 wk without autopsy or known etiology for the fetal demise. Parents are both healthy and there is no history of consanguinity. On further evaluation, the patient was found to have severe ferritin elevation and pulmonary hypertension. An extensive infectious and metabolic work-up was negative. Salivary gland biopsy was negative for iron deposition. At 2 wk of age, a liver biopsy showed findings consistent with CDA1. A genome rapid sequencing panel revealed novel variants in the CDAN1 gene. The patient's liver dysfunction, cholestasis and organomegaly resolved, however she remains transfusion-dependent. CONCLUSION: We report liver pathology findings of CDA1 with a novel genetic mutation for the first time in a newborn.

Congenital Chylous Ascites and Ehlers-Danlos Syndrome Type VI.

We report the first observation of a patient with contgenital chylous ascites (CCA) and Ehlers-Danlos syndrome type VI due to primary lymphatic defect with additional vascular anomaly. CCA is a rare condition, and there is limited understanding of its pathophysiology and treatment options. We also review the patient's treatment course mitigated with octreotide and total parenteral nutritional support, as there are no current established guidelines for CCA. Early recognition of possible association with Ehlers-Danlos syndrome is important for quick intervention and successful management of pediatric patients.