Case of split notochord syndrome: a neonate with thoracic neuroenteric cyst, abdominal duodenal duplication cyst, malrotation and vertebral anomalies.

The authors describe a case of a male neonate with split notochord syndrome presenting with cervico-thoracic deformity, thoracic neuroenteric cyst, separate abdominal duodenal duplication cyst and concurrent intestinal malrotation. This combination of abnormalities is very rare. When these lesions are suspected, patients must be investigated carefully.This case is presented not only to recount an infrequent combination of structural abnormalities but also to raise awareness of the signs that should point to clinical suspicion and prompt diagnosis.Following surgical excision of the thoracic neuroenteric cyst, the patient has made a good recovery.

Evaluation of Clinical Outcomes in Children with Intrahepatic Cholestasis Postpartial External Biliary Diversion: A Single-Center Experience.

Background: Severe pruritus caused by progressive familial intrahepatic cholestasis (PFIC) and Alagille syndrome (AGS) is refractory to medical treatment. Surgical interruption of the enterohepatic circulation is considered the mainstay of alleviating distressing symptoms and delaying cirrhosis. Aim and Objectives: This study aims to evaluate the short-term effect of partial external biliary diversion (PEBD) on pruritus, liver disease progression, patient's growth, and quality of life. Material and Methods: This prospective cohort study enrolled children with PFIC and AGS from July 2019 to July 2021, whose guardians consented to the PEBD procedure. A standard surgical approach was performed by a single surgeon. Outcomes were measured subjectively and objectively pre- and post-procedure using the pruritus 5-D itching score, Paediatric Quality of Life Inventory scale (PedsQL), growth parameters, bile acids level, and liver function tests. Patients' follow-up period ranged from 6 to 12 months. Results: Seven patients had PEBD procedure; five with PFIC and two with AGS. A significant improvement was detected in the 5-D itching score (p-value < 0.001), PedsQL (p-value < 0.001), and bile acids level (p-value 0.013). The preexisting growth failure was ameliorated. The downward trend in the bilirubin level was not significant. No influential difference in the other liver function tests occurred. No intra-operative complications encountered. Only one case had a post-operative stoma prolapse which was managed surgically. Conclusion: PEBD procedure could be considered as an effective and safe treatment options for intractable pruritus in patients with PFIC or AGS, providing preserved synthetic liver functions.

Assessment of gastroschisis risk factors in Egypt.

AIM: Mortality in infants born with gastroschisis (GS) in low-to-middle-income countries (LMICs) is high. This study aimed to assess factors which might affect outcome in Egypt in order to improve survival. METHODS: A prospective study over a 15-month duration was completed. Variables assessed covered patient, maternal, antenatal, treatment, and complications. The Gastroschisis Prognostic Score (GPS) was used to predict outcome. A validated questionnaire was used to assess socioeconomic status. The main outcome was mortality. RESULTS: Twenty-four cases were studied. Median gestational age was 37 (26-40) weeks, and 9 (38%) were preterm. Mortality occurred in 15 (62%) infants. Median transfer time was 8 (1.5-35) hours, and 64% survived if transferred before 8 h. Median maternal age was 20 (16-27) years. All families were of a low or very-low socioeconomic level. Only 25% had antenatal scans. Most cases were simple GS, and only 3 (12.5%) were complex GS. Median length of stay was 14 (1-52) days, TPN duration was 12 (0-49) days, and days to full feeds was 5 (3-11) days. The GPS score ranged from 0 to 6 in the studied cases and negatively correlated with outcome (rS = -0.98; p = 0.03). CONCLUSION: The mortality of GS in Egypt is very high, mainly due to sepsis and prematurity. Young maternal age and poor socioeconomic status are linked to GS. The GPS is a good indicator of morbidity and mortality in a LMIC setting. Survival improved with better resuscitation and strict management protocols. More effort is needed to improve antenatal detection, and transfer time should be ideally below 8 h. LEVEL OF EVIDENCE: Level IV.