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Ehlers–Danlos Syndrome Type IV: a Case Report of a Rare Cause of Spontaneous Sigmoid Perforation and Enteroatmospheric Fistula

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Ehlers–Danlos Syndrome Type IV: a Case Report of a Rare Cause of Spontaneous Sigmoid Perforation and Enteroatmospheric Fistula Kodikara et al. surg case rep (2020) 6:312 https://doi.org/10.1186/s40792-020-01051-0 CASE REPORT Open Access Ehlers–Danlos syndrome type IV: a case report of a rare cause of spontaneous sigmoid perforation and enteroatmospheric fstulae in a child Hemal Kodikara1,2, Sebastian K. King1,3,4* and Elizabeth McLeod1 Abstract Background: Ehlers–Danlos syndrome (EDS) type IV is a rare subtype of EDS, but has important surgical implications. Case presentation Here, we present a case of a spontaneous sigmoid perforation in a 14-year-old boy. He was initially treated with lapa- rotomy, oversew of the sigmoid perforation and a diverting ileostomy. He developed a complete wound dehiscence and enteroatmospheric fstulae. These were managed with a combination of negative pressure wound therapy and Eakin (TG Eakin™) pouch changes. We discuss the clinical features and presentation of EDS type IV, the surgical impli- cations of managing patients with the condition, and the challenges in management of enteroatmospheric fstulae in children. Conclusions: Ehlers–Danlos syndrome type IV should be considered as a cause of any spontaneous colonic perfora- tion in children. Keywords: Ehlers–Danlos syndrome type IV, Sigmoid perforation, Negative pressure wound therapy, Enteroatmospheric fstula, Paediatric Background presentation and management of an adolescent patient Ehlers–Danlos syndrome (EDS) is a heterogeneous group who presented with spontaneous colonic perforation, of hereditary connective tissue diseases, characterised by who went on to develop multiple and refractory enteroat- abnormalities in the joints, skin and connective tissue. mospheric fstulae. Type IV is a rare subtype of EDS, uncommonly encoun- tered in clinical practice, with an incidence of approxi- Case presentation mately 1/200,000. Joint hypermobility is not usually a A 14-year-old boy, with no signifcant past medical or major feature; instead, it is characterised by distinctive family history, was assessed at our tertiary paediatric facial features, translucent skin with visible subcutane- surgical centre following a 3-day history of abdominal ous vessels on the trunk, easy bleeding/bruising and pain, vomiting and fever. Examination revealed a patient severe arterial, gastrointestinal and uterine complica- in septic shock with generalised abdominal rigidity. A tions, not seen in the other forms of EDS. We discuss the chest radiograph demonstrated a moderate volume of sub-diaphragmatic air. Following resuscitation and ini- tiation of intravenous antibiotics, diagnostic laparoscopy *Correspondence: [email protected] 1 Department of Paediatric Surgery, The Royal Children’s Hospital, demonstrated widespread faecal peritonitis and a mid- Melbourne, Australia line laparotomy was performed. A 3-mm perforation of Full list of author information is available at the end of the article the proximal sigmoid colon was demonstrated, with no © The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creat iveco mmons .org/licen ses/by/4.0/. Kodikara et al. surg case rep (2020) 6:312 Page 2 of 5 evidence of diverticulum nor other colonic abnormality. the characteristic facial features, acrogeria, translucent Te procedure was complicated by extensive bleeding skin, and other less common features, such as nocturnal from the tissues and an iatrogenic defect in the ileal mes- lagophthalmos (sleeping with eyelids open). Genetic test- entery, resulting in ischaemia of 10 cm of terminal ileum. ing demonstrated a COL3A1 mutation, confrming the Given this, the decision was made to oversew the sigmoid diagnosis of EDS type IV. perforation with interrupted PDS sutures, resect and Negative pressure dressing changes occurred every anastomose the ischaemic ileum, and perform a defunc- 48–72 h to allow the wound to granulate. Te follow- tioning loop ileostomy. Te patient was transferred to the ing 2 months involved mobilisation, introduction of intensive care unit, where he made a satisfactory recov- oral intake, and maturation and eversion of the fs- ery and was extubated on day 3. tulae (over a period of 4 weeks). Imaging, including From the third postoperative day, serous fuid was CT with oral contrast, contrast follow-through stud- noted on the abdominal dressing; however, the wound ies and stomagram, were used to defne the fstulae in remained intact. He was transferred to the ward, ileos- the distal jejunum. Examination under anaesthesia tomy function commenced and enteral feeding started. confrmed that all four fstulae within the same bowel On postoperative day 9, he was noted to have a com- loop. Despite considerable eforts, the negative pres- plete wound dehiscence and was taken back to theatre sure dressings were inefectual at removing the efuent for assessment. Tere was wide separation of the fascial from the wound, and it became clear that closure of the edges, with exposed intestine. Te wound was cleaned fstulae and abdominal wall would not be possible. Tis and a negative pressure dressing applied, with Mepitel led to a change in management, with the use of a large (Molnlycke™) used as the interface between the sponge custom-ft pouch stoma bag (TG Eakin Ltd), encom- and the intestine. On postoperative day 11, small bowel passing the entire midline wound and fstulae (Fig. 2). efuent was noted in the suction container. In theatre, Dressing changes were performed every 48–96 h under four small bowel fstulae in a superfcial bowel loop were general anaesthesia due to pain levels. Te fstula out- demonstrated (Fig. 1), and a negative pressure dressing put was highly variable (between 400 and 3000 ml daily was reapplied to manage the new fstulae. A literature depending on oral intake). High output from the fstula search suggested a phenotype of EDS type IV, including did become a signifcant problem requiring intravenous replacement and additional TPN supplementation, but this was ameliorated with loperamide, pectin, Lomotil (atropine and diphenoxylate) and adjusted feed rates and volumes. Control of sepsis was never an issue for Fig. 1 Early appearance of abdominal wall with fstulae demonstrated Fig. 2 Use of large custom-ft stoma pouch to midline fstulae Kodikara et al. surg case rep (2020) 6:312 Page 3 of 5 this patient, however he required multiple blood trans- with close surveillance by clinical nutrition, endocri- fusions, with presumed occult GI blood loss. Over the nology and adolescent psychiatry teams. following 4 months the wound contracted signifcantly Over the following 6 months, a transition to stoma bag in size, and he was able to tolerate nasogastric feeding changes under sedation was achieved. Te patient devel- without signifcant increases in stomal outputs. Te oped osteopenia, with multiple compression fractures of patient was discharged 6 months postoperatively, with the thoracolumbar spine, and a shaft of humerus fracture nocturnal parenteral nutrition and thrice weekly stoma which complicated long-term pain management goals. bag changes, with the enteroatmospheric fstula having Dependence on analgesia, oppositional defance disorder matured into a complex midline jejunostomy (Fig. 3). and depression developed. After discussion with the fam- Management of the patient’s stoma continue to be ily, a decision was made to manage the fstulae conserva- problematic (skin breakdown, pain, psychological dis- tively. Eighteen months after re-fstulation, the family are tress), resulting in the decision to attempt repair of the managing the stoma well at home. Mood and social func- fstulae. Following nutritional optimisation, a further tioning have also improved. laparotomy was performed. Tis was technically chal- Spontaneous sigmoid perforation is rare in children, lenging due to dense adhesions, multiple serosal tears, and potential causes include foreign body, stercoral, signifcant oozing, and abnormalities in the tensile diverticular disease, and infammatory bowel disease. strength of the small bowel. Five jejunal fstulae within Spontaneous sigmoid perforation has been described a short segment (~ 15 cm) were mobilised and resected, most often in young children and infants in the setting with one resulting anastomosis and good preserva- of febrile illness (especially gastroenteritis or respiratory tion of small bowel length. A sheet of Vicryl mesh was tract infection), current hospitalisation and abdominal placed into the defect, and 2 Jackson Pratt drains over- distension [1]. Our adolescent patient had no known lain. A negative pressure dressing was overlain and the underlying illness nor risk factors for any of these condi- laparostomy progressively closed over a period of 1 tions, and so consideration was given to rarer potential month with drains left in situ. Unfortunately, there was causes, such as EDS type IV. further
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