Use of home parenteral nutrition in severely neurologically impaired children.

OBJECTIVE: To review the outcome of children with severe neurological impairment (NI) and intestinal failure (IF) referred to our specialist multidisciplinary IF rehabilitation service and to discuss implications. DESIGN: Case report series, descriptive analysis. SETTING: IF rehabilitation programme at a tertiary children's hospital in the UK. PATIENTS: Children with severe NI referred to our IF rehabilitation programme from 2009 to 2019. MAIN OUTCOME MEASURES: Demographic and social data, diagnosis, clinical condition, use of home parenteral nutrition (HPN), complications, ethics review outcome and advance care plans. RESULTS: Six patients with severe NI were referred to our IF rehabilitation service. Consent for publication was obtained from five families. After thorough medical review and clinical ethics committee assessment, three children started HPN, one had intravenous fluids in addition to enteral feed as tolerated and one intravenous fluids only. The HPN children survived 3-7.08 years (median 4.42 years) on treatment. Objective gastrointestinal signs, for example, bleeding improved without excessive HPN-related complications. Symptomatic improvement was less clear. Analgesia was reduced in three of the five children. All cases had detailed symptom management and advance care plans regularly updated. CONCLUSIONS: HPN can play a role in relieving gastrointestinal signs/symptoms in children with severe NI and IF. HPN can be conceptualised as part of good palliative care if judged to be in the child's best interests. However, given its risks and that HPN has the potential to become inappropriately life-sustaining, a thorough ethics review and evaluation should be performed before it is initiated, withheld or withdrawn in children with severe NI.

Mucosal Abnormalities in Children With Congenital Chloride Diarrhea-An Underestimated Phenotypic Feature?

Objectives and Study: Congenital chloride diarrhea (CCD) is a rare, autosomal recessive disorder caused by mutations in the SLC26A3 gene encoding a transmembrane chloride/bicarbonate ion exchanger mainly expressed in the apical brush border of the ileal and colonic epithelium. Lifelong, secretory, chloride-rich diarrhea and hypochloremic, hypokalemic metabolic alkalosis are characteristic. Histological evidence of bowel inflammation is not typically described in CCD and has only been reported in a few patients. Methods: We report four cases of CCD who received adequate resuscitation with appropriate replacement of their fecal salt and water losses. Three had associated inflammatory bowel changes at endoscopy. The index case of CCD who developed frankly bloodstained diarrhea aged 7 months was found to have histologically confirmed colitis at endoscopy. An electronic search of the hospital database to identify all patients with confirmed CCD was performed. A further three children underwent de novo diagnostic evaluation and treatment. A retrospective case note review was undertaken to determine the incidence and subtype of inflammatory bowel disease (IBD) by clinical, endoscopic, and histological means. Results: Four children with genetically confirmed CCD were identified, two being female. The first girl had a granulomatous colitis with ulceration. She went into remission with a combination of steroids and azathioprine. Immunosuppression was subsequently discontinued without a further flare of colitis. A second girl was found to have patchy inflammatory changes in the small bowel and focal active colitis. A third patient, a boy, demonstrated mild inflammatory changes in the small bowel with apoptotic debris and mild inflammation in the colon. A fourth patient did not develop intestinal inflammation. Conclusion: Our case series highlights the potential association of CCD with panenteric inflammation. While our cohort was small, CCD is rare and three out of four children referred to our tertiary referral center were affected. While early diagnosis and adequate salt replacement therapy are crucial in CCD management, the clinician should also be aware of bowel inflammation as a potential cause of failure of CCD therapy to control bowel symptomatology. Further insight is needed to understand the underlying patho-mechanism giving rise to bowel inflammation in this group.

Growth and bone health in pediatric intestinal failure patients receiving long-term parenteral nutrition.

BACKGROUND: Children with chronic intestinal failure (IF) treated with long-term parenteral nutrition (PN) may present with low bone mineral density (BMD). The cause may reflect small body size or suboptimal bone mineralization. OBJECTIVE: We assessed growth and bone health in children with severe IF. DESIGN: Height, weight, and fracture history were recorded. The lumbar spine bone mass was measured in 45 consecutive patients (24 male subjects) aged 5-17 y receiving PN for a median of 5 y. BMD and bone mineral apparent density (BMAD) [ie, adjusted-for-height SD scores (SDSs)] were calculated. RESULTS: Diagnoses were short bowel syndrome in 12 patients (27%), intestinal enteropathy in 20 patients (44%), and motility disorder in 13 patients (29%). Mean (±SD) weight, height, and body mass index SDSs were -0.8 ± 1.3, -1.80 ± 1.5, and 0.4 ± 1.3, respectively. The height SDS was less than -2 in 23 children (50%). Patients with enteropathy or intestinal mucosal inflammation (associated with dysmotility or short bowel) were significantly shorter than patients without enteropathy (P = 0.007). The BMD SDS was -1.7 ± 1.6, and the BMAD SDS was -1.4 ± 1.5, independent of primary diagnosis or mucosal inflammation. Nineteen patients (42%) had low BMD (SDS less than -2.0), and 14 patients (31%) had low BMAD. In 25 patients studied at 1-2-y intervals, the BMD SDS fell significantly with time, whereas BMAD declined less, which suggested that a poor bone mineral accretion reflected poor growth. A total of 11 of 37 patients (24%) had nonpathologic fractures (P = 0.3 compared with the general population). CONCLUSIONS: Approximately 50% of children were short, and one-third of children had low BMD and BMAD. Children with enteropathy or intestinal mucosal inflammation are at greatest risk of growth failure. Close nutritional monitoring and bespoke PN should maximize the potential for growth and bone mass.

A qualitative study of the quality of life of children receiving intravenous nutrition at home.

OBJECTIVES: To discover the views of children with severe intestinal failure treated with intravenous nutrition from early life and who remained heavily dependent on treatment throughout childhood. METHODS: Seven children ages 7 to 17 years (mean 13 years) were interviewed. The diagnoses were enteropathy in 3, extreme short gut in 1, complex (associated mucosal inflammation and dysmotitlity) in 2, and intestinal pseudo-obstruction in 1. They were treated with intravenous nutrition overnight at home that was administered by trained parents using the simplest possible system. The children were individually questioned about their lifestyle and health. Transcripts were analysed using interpretive phenomenological analysis. RESULTS: Children coped well with life with intravenous nutrition (apart from septicaemia in 2 cases), but were troubled when complications of the underlying disease persisted (eg, nocturnal disturbance, stool frequency, abdominal pain). Children were aware that life was restricted (eg, fewer sleepovers with friends, fewer late nights out). There was a high level of family functioning. Older children wished to take care of themselves. The burdens of life with intravenous nutrition appear to be less significant for these children than living with the effects of chronic illness. There was resilience and acceptance in the face of illness-related demands. CONCLUSIONS: This study has found that despite the problems they may face, it is possible for children fed intravenously at home to develop a level of resilience, maintain a positive outlook, and cope well with illness-related demands even when they have had virtually lifelong severe intestinal failure. Families can continue to function well.

Treatment of intractable ulcerating enterocolitis of infancy by allogeneic bone marrow transplantation.

BACKGROUND & AIMS: Intractable ulcerating enterocolitis of infancy (IE) is an uncommon, autosomal-recessive, and devastating inflammatory bowel disorder that arises as a consequence of a poorly defined underlying immunologic disorder. Infants with IE suffer from recurrent severe oro-anal disease and an enterocolitis that is unresponsive to conventional immunosuppressive therapy and requires early pancolectomy to control the severity of the disease. Despite such aggressive treatment these individuals remain at high risk of Epstein-Barr virus-driven lymphomatous proliferations, including non-Hodgkin's lymphoma. The underlying genetic basis for this disease remains undefined. This report aims to describe the use of bone marrow transplantation as a treatment for this condition. METHODS: This was a case series report. RESULTS: We describe the successful treatment of IE by allogeneic bone marrow transplantation in 2 brothers, now aged 7 and 11 years, one of whom had developed an Epstein-Barr virus-related monomorphous B-lymphocyte lymphoproliferative disorder. This treatment has resulted in prolonged clinical remission in both boys and abrogated the need for aggressive immunosuppression. CONCLUSIONS: Bone marrow transplantation can be used for the treatment of intractable ulcerating enterocolitis of infancy, which may support a role in other intractable inflammatory bowel conditions in the pediatric population.