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Short bowel syndrome (SBS) is a rare condition characterised by extensive loss of intestinal mass secondary to congenital or acquired disease. The outcomes are determined by dependency on parenteral nutrition (PN), its possible complications and factors that influence intestinal adaptation. In order to achieve the best results, patients should be managed by a specialised multidisciplinary team with the aims of promoting growth and development, stimulating intestinal adaptation and preventing possible complications. This involves timely surgical management aimed at rescuing maximum bowel length and eventually re-establishing intestinal continuity where appropriate. A combination of enteral and parenteral nutrition needs to be targeted towards maintaining a balance between fulfilling the nutritional and metabolic needs of the child while preventing or at least minimising potential complications. Enteral nutrition and establishment of oral feeding play a fundamental role in stimulating bowel adaptation and promoting enteral autonomy. Other measures to promote enteral autonomy include the chyme recycling in patients where bowel is not in continuity, autologous gastrointestinal reconstruction and pharmacological treatments, including promising new therapies like teduglutide. Strategies such as lipid reduction, changing the type of lipid emulsion and cycling PN are associated with a reduction in the rates of intestinal failure–associated liver disease. Even though vast improvements have been made in the surgical and medical management of SBS, there is still lack of consensus in many aspects and collaboration is essential.

We describe the case of a previously fit child with recurrent vomiting, faltering growth, persistent diarrhoea and rashes who was diagnosed with a sodium-dependent multivitamin transporter (SMVT) defect. Whole exome sequencing revealed he was homozygous for aSLC5A6missense variant. TheSLC5A6gene produces SMVTs, which are expressed in various tissues including the intestine, brain, liver, lung, kidney, cornea, retina and heart. It plays a major role in the uptake of biotin, pantothenate and lipoate in the digestive system and transporting B-group vitamins across the blood–brain barrier.This case was only the fourth described in literature. Management was with vitamin replacement therapy: biotin, dexpanthenol and α-lipoic acid. With treatment there was significant, sustained clinical improvement with resolution of recurrent vomiting, rashes and graduation to full enteral feeds.This case highlights how defects in multivitamin transporters can lead to multisystemic disease and subsequent targeted treatment leading to significant clinical improvement.

Case A previously fit and well 13-month-old boy of South Asian descent born to consanguineous parents presented acutely with persistent diarrhoea, vomiting and a perioral rash. He was febrile, developed bloody diarrhoea and clinically deteriorated with significant weight loss (50th centile to 9th centile). He continued to have episodes characterised by cyclical vomiting and feed intolerance, often with associated febrile illness with no microorganisms found from multiple septic screens. Investigations Investigations showed persistently raised inflammatory markers, anaemia and thrombocytopenia, with hypogammaglobulinaemia. Ultrasound abdomen showed evidence of generalised enteritis initially, but he failed to improve on a course of triple antibiotics. Stool cultures and viral PCR were negative. Faecal calprotectin was raised (>2000 mg/kg). Repeat ultrasound abdomen showed fluid filled, actively peristalsing small and large bowel, with very mild wall thickening and inflammatory mesenteric change. Subsequent upper and lower GI endoscopy was macroscopically normal, and histology revealed chronic active oesophagitis/gastritis with a normal colon. Ophthalmology assessment due to vision concerns revealed bilateral optic atrophy. MRI brain showed lack of supratentorial, infratentorial and parenchymal bulk with thinning of the corpus callosum and optic nerves. Progress The rash spread to include the peri-oral, peri-auricular, sacral and genital areas. He was initially treated for acrodermatitis enteropathica due to clinical presentation and borderline low zinc levels, however zinc supplementation did not resolve symptoms. Feed intolerance persisted despite switch to amino acid formula. Parenteral nutrition was commenced after failed enteral (gastric and jejunal) feeding trials. Whole exome sequencing revealed two missense mutations in the SLC5A6 gene. Management and Discussion The SLC5A6 gene produces sodium-dependent multivitamin transporters (SMVT) which are expressed in various tissues including the intestine, brain, liver, lung, kidney, cornea, retina and heart. It plays a major role in the uptake of biotin, pantothenate and lipoate in the digestive system and transporting B-group vitamins across the blood brain barrier. This case was only the fourth to ever be described in literature. The first case described a 15-month-old with failure to thrive, microcephaly, developmental delay, severe immune deficiency and severe gastroesophageal reflux.1 A subsequent series described two siblings with profound neurodevelopmental, progressive truncal ataxia and refractory cyclical vomiting.2 Our patient was managed on vitamin replacement therapy: Biotin (10 mg, intramuscular), Dexpanthenol (250 mg, intramuscular) and α-lipoic acid (300 mg, intravenous) given weekly. With treatment he has shown significant improvement. Cyclical vomiting has settled, his rashes are quiescent, and bloods have normalised. He is now 2 years old, fully enterally fed with his weight on the 70th centile. This case highlights how defects in multi-vitamin transporters can lead to multi-systemic disease. It also demonstrates the diagnostic role of whole exome sequencing, and with growing genetic databases it will only increase its future potential. References Subramanian VS, Constantinescu AR, Benke PJ, Said HM. Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. Hum Genet. 02 2017;136(2):253–261. Byrne AB, Arts P, Polyak SW, et al. Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. NPJ Genom Med 2019;4:28.

Gastroesophageal reflux (GOR) symptoms in infants are a common reason for consulting medical professionals, with a reported prevalence of 4.3% at 6 months which decreases to 2% by 18 months of age.1 In May 2009, the North American Society for Paediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) and the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) jointly published clinical practice guidelines on the diagnosis and management of GOR in children.2 The aim was to develop ‘an international consensus on the diagnosis and management of GOR and GOR disease (GORD) in the paediatric population’.2 A recent clinical report from the American Academy of Pediatrics has re-endorsed these guidelines.3 Consensus statements have been developed by an international panel of nine paediatric gastroenterologists and two epidemiologists based on the Delphi principle and included analysis of >600 articles.2 The guidelines are aimed at paediatricians and paediatric subspecialists for use in daily practice. In 1997, consensus-based guidelines on several aspects of GOR and GORD were developed by the ESPGHAN Working Group on GOR.4 In 2001, NASPGHAN published its first clinical practice guidelines on paediatric GOR and GORD, and this document served as the basic structure for the recent guidelines5 (see box 1). Box 1 ### Resources ### Definition of GOR and GORD The guidelines have emphasised the difference between the terms GOR and GORD, which are to be strictly used as defined. GOR is the effortless passage of gastric contents into the oesophagus with or without regurgitation and vomiting, and is a normal physiological process . GORD occurs when the reflux of gastric contents causes troublesome symptoms and/or complications. ### Diagnosis In …

Background Coeliac disease (CD) is an immune mediated systemic disorder elicited by the ingestion of gluten and related prolamines in genetically susceptible individuals. Diagnosis has been based on small bowel histology as per ESPGHAN guidelines. In 2012 ESPGHAN guidelines1 were modified and recommend that in symptomatic patients a diagnosis of CD can be made without small-bowel biopsy if anti-tissue transglutaminase antibody (TTG) titre is greater than 10 times upper limit of normal (>10ULN), together with presence of HLA-DQ2 and/or DQ8. This study aimed to examine the relationship between TTG levels and the corresponding histological features. Methods Data was collected prospectively at diagnosis of CD from 126 consecutive children between June’ 2011 – May’ 2012. TTG was measured using ELISA technique. Histological samples were obtained from endoscopic small-bowel biopsies and interpreted by paediatric histopathologists. The relationship between the modified Marsh criteria histological findings and contemporaneous TTG levels was analysed. Results Out of 126 children, 13(10.5%) had positive TTG but no documented titres. In 12(10%) histological report did not specify Marsh classification. Complete data of histological report and TTG level were therefore available from 104 children (82%). The data (table) shows an association between TTG level and histological staging of CD. 58 (48%) children had TTG >10ULN (>100U/ml). 57/58 of these patients had biopsy proven CD. The sensitivity of the TTG level >100U/ml alone in correctly diagnosing CD in this cohort was 98.3%. Conclusion 98.3% of children with TTG >100U/ml had histologically confirmed CD although total villous atrophy was associated more often with TTG level of >200U/ml. It is essential to report TTG titres by all laboratories. This study supports the new ESPGHAN guidelines for the selective use of high TTG levels in diagnosing CD in symptomatic children without a biopsy. Reference Husby S, et al . J Pediatr Gastroenterol Nutr . 2012;54(1):136–60