Märzheuser Stefanie, Schulze Felix, Lindert Judith
Department of Paediatric Surgery, University Hospital Rostock, Ernst-Heydemann Str 8, 18057 Rostock, Germany.
Children (Basel). 2024 Jul 28;11(8):911. doi: 10.3390/children11080911.
Total colonic aganglionosis, as a rare variant of Hirschsprung Disease, still poses challenges to surgeons in terms of diagnosis and management. The optimal preparation for pullthrough is crucial for reconstructive surgery. This study aims to explore our surgical pathway for children with total colonic aganglionosis (TCA) and to describe the prehabilitation necessary to prepare for successful reconstructive pullthrough surgery. A prospective review of children with TCA receiving an abdominal surgical intervention between 1/22 and 4/24. The cohort included children receiving mapping +/- primary ileoanal pullthrough. An analysis of preoperative, perioperative, and postoperative data, and a short-term follow-up were performed. A total of 18 children with TCA and no prior pullthrough received an abdominal intervention during the 29-month study period, and 5/18 (27.8%) were female. The children had a median of 4 (range 2-7) prior external surgeries; all had a stoma; 6 (33%) children received parental nutrition; 12 children underwent a mapping of the ganglia distribution and bowel length at a median age of 11 months (range 3-54), and in 10 of them, we relocated the stoma. There was a mean involvement of 15 (5-93) cm small bowel aganglionosis, with the remaining mean ganglionic small bowel having a length of 178 cm (110-254). A total of 11 children underwent straight primary ileoanal pullthrough of the stoma site at a median age of 16.7 months (10-133). The timely diagnosis of TCA still challenges the care team, and most children have a rough journey involving several surgeries until their diagnosis is established. The ensure bowel function with an adequate working stoma is the key to enabling enteral nutrition and growth, which are the baseline requirements to undertake a successful pullthrough procedure and restore continuity. Careful perioperative bowel management and parents' active involvement supports children with Hirschsprung Disease achieving the best possible quality of life.
全结肠无神经节症作为先天性巨结肠病的一种罕见变异型，在诊断和治疗方面仍给外科医生带来挑战。拖出术的最佳准备对于重建手术至关重要。本研究旨在探索我们针对全结肠无神经节症（TCA）患儿的手术路径，并描述为成功的重建拖出手术做准备所需的术前康复治疗。对2022年1月至2024年4月期间接受腹部手术干预的TCA患儿进行前瞻性回顾。该队列包括接受神经节定位+/-一期回肠肛管拖出术的患儿。对术前、围手术期和术后数据进行了分析，并进行了短期随访。在29个月的研究期间，共有18例未接受过拖出术的TCA患儿接受了腹部干预，其中5/18（27.8%）为女性。这些患儿之前平均接受过4次（范围2 - 7次）外部手术；均有造口；6例（33%）患儿接受过肠外营养；12例患儿在平均11个月（范围3 - 54个月）时进行了神经节分布和肠管长度的定位，其中10例进行了造口重置。平均有15 cm（5 - 93 cm）的小肠无神经节症受累，其余有神经节的小肠平均长度为178 cm（110 - 254 cm）。共有11例患儿在平均16.7个月（10 - 133个月）时在造口部位进行了直接一期回肠肛管拖出术。TCA的及时诊断仍然给医疗团队带来挑战，大多数患儿在确诊之前要经历涉及多次手术波折的病程。确保有一个功能良好的造口以维持肠道功能是实现肠内营养和生长的关键，而这是成功进行拖出手术并恢复肠道连续性的基本要求。精心的围手术期肠道管理以及家长的积极参与有助于先天性巨结肠病患儿获得尽可能最佳的生活质量。
