Background: Although parenteral nutrition (PN) significantly improves mortality rates in pediatric short bowel syndrome (SBS), long-term PN has many possible complications and impacts quality of life. Bowel lengthening procedures (BLPs) increase the contact surface of food and the intestinal mucosa and enable the better absorption of nutrients and liquids, possibly leading to a PN decrease. Methods: We retrospectively reviewed the data of patients with short bowel syndrome who underwent BLPs in the period from January 2016 to January 2022. Overall, eight patients, four male, five born prematurely, underwent BLPs. Results: There was a significant decrease in the percentage of total caloric intake provided via PN and PN volume after the BLPs. The more evident results were seen 6 months after the procedure and at the last follow-up, which was, on average, 31 months after the procedure. Two patients were weaned off PN after their BLPs. Patients remained well nourished during the follow-up. Conclusions: The BLP led to a significant decrease in PN needs and an increase in the food intake; however, significant changes happened more than 6 months after the procedure.

Goal Kabuki syndrome (KS) is a rare malformation syndrome caused by mutations in KMT2D and KDM6A genes. Besides the cardinal manifestations, including distinctive facial appearance, mild-to-moderate intellectual disability, dermatoglyphic abnormalities such as persistence of fetal fingertip pads, skeletal anomalies and postnatal growth retardation, a wide spectrum of other anomalies is documented so far. We present clinical features and diagnostic findings in our four patients. Methods During the 2016-2019 period, four of our patients were diagnosed with KS based on clinical observation and gene-targeted testing or comprehensive genomic testing (exome sequencing). Results Three of our patients were males, one aged 17 and two aged 3 years, and one female aged 16 years at the time of diagnosis. Mutation of the KMT2D gene was identified in two patients, mutation KDM6A in one patient, while molecular analysis of one male patient is still in progress. In addition to the five cardinal findings, one male patient had cleft palate, one had aortal coarctation with bicuspid aortic valve and one had multiple severe respiratory infections. Although susceptibility to autoimmune disorders is a known feature in these patients, our female patient with KMT2D gene mutation was recognized as the first KS patient with systemic lupus erythematosus. Conclusion KS is a rare disorder with highly variable clinical features making the diagnosis difficult. Consequently, a close collaboration between pediatric subspecialists, clinical geneticists and molecular biologists is essential in the terms of clinical recognition and genetic confirmation of this syndrome.