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Amongst patients diagnosed with diabetes mellitus (DM) before the age of 12 months, there is an increasing recognition of diabetes caused by single gene mutations; which is also known as monogenic diabetes of infancy or neonatal diabetes mellitus (NDM). The aim of this study was to classify patients at Alexandria University Children's Hospital (AUCH) diagnosed with infantile-onset DM into type 1 DM (T1DM) and NDM categories, and to detect differences in molecular characteristics of NDM patients at our center in comparison to other countries. Methods:This retrospective/prospective observational study was conducted in 39 patients diagnosed with infantile-onset DM (age of onset ≤1 year) at AUCH from January 2003 to November 2020. The patients were divided into 2 groups according to the age of onset of DM: ≤6 months and >6-12 months. Molecular testing was done in patients diagnosed with DM ≤6 months and those with negative autoantibodies.Results: Twelve patients were diagnosed with DM at age ≤ 6 months and 27 patients were diagnosed between 6-12 months. Seventeen patients (43.6%) had T1DM, whereas 9 patients (23.1%) had genetically confirmed NDM, including 3 harboring novel mutations. The most common genetic causes of NDM were EIF2AK3 mutations (n=3), followed by KCNJ11 (n=2), and ABCC8 (n=2). Other mutations included SLC19A2 (n=1), and INS (n=1). Three patients with potassium ATP channel mutations were transferred from insulin to sulphonylurea treatment. Conclusion:Identifying patients with NDM clinically and confirming the diagnosis by molecular testing to distinguish them from T1DM is essential as it helps in refining their management, predicting prognosis, and guiding genetic counseling.

Background While necrotizing enterocolitis (NEC) is a prevalent condition in preterm neonates admitted to neonatal intensive care unit (NICU), intussusception is exceedingly uncommon and often overlooked. This is due to the fact that they share many clinical characteristics. The initial misdiagnosis of intussusception in preterm neonates (IPN) especially has led to a delay in their management, which increases the risk of developing compromised bowel. Additionally, it is difficult to reach a diagnosis as neonatal intussusception does not have any classical radiological signs even when contrast enema is used. This systematic review is based on the published literature including case reports and case series to review the clinical features of IPN and how to differentiate it from NEC in order to shed the light on this rare disease and how having a high index of suspicion would help practitioners to make an early and accurate diagnosis Methods A systematic literature search to report all cases of relevant articles that reported IPN till date. All cases that were born before 37 weeks gestational age, presented within the neonatal period and having well established documentation were included in the study. Any case that did not have these criteria was excluded from our study. Results Only 52 cases met these criteria during the period from 1963 till date. An average of 10 days had elapsed before the cases were confirmed to have IPN either clinically or intraoperatively. The most frequent manifestations were abdominal distension and bilious gastric residuals, occurring in 85% and 77% of the cases respectively, followed by bloody stools in 43% of cases. However, this triad was present only in approximately one-third of the cases. Only 13 cases were diagnosed as having intussusception preoperatively. About two thirds of the intussusception were located in the ileum. Pathological lead point was present in 7 cases only; 4 of them were due to Meckel’s diverticulum. Nine cases only out of the 52 cases with IPN died. Conclusion It is crucial to detect the clues for diagnosis of intussusception because in contrast to NEC, it is unresponsive to conservative management, affects the viability of the bowel and surgery is essential.

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