Blackburn Simon, Corbett Phillip, Griffiths D Mervyn, Burge David, Beattie R Mark, Stanton Michael
Department of Paediatric Surgery, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
Department of Paediatric Gastroenterology, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
Eur J Pediatr Surg. 2014 Dec;24(6):488-91. doi: 10.1055/s-0033-1363159. Epub 2013 Dec 17.
Total colonic aganglionosis (TCA) is a rare condition, which is challenging to manage. Outcome data are sparse. We aimed to review the demographics, treatment, and outcomes of TCA in our center.
A retrospective case note review of 15 years from a single center was undertaken.
A total of nine patients (five male) were managed. Gestational age at birth was 39 weeks (range, 32.5-41 weeks). All patients were referred with distal intestinal obstruction at a median of day 2 (range, 1-6 days) of life. Two patients were managed with a long-term stoma. One died with persistent functional obstruction (despite a ganglionic stoma). Of the nine patients, seven patients underwent staged pull-through: three Soave, three Duhamel, and one Martin procedure with no short-term complications. All patients had at least one readmission with enterocolitis, diarrhea, or high stoma output. Further procedures were required in four of the seven patients. Only one child (older than 3 years) has achieved continence. Two children (both aged 8 years) requested reformation of a stoma to manage incontinence.
In this series, we observed high morbidity and poor functional outcome, which should be anticipated in TCA. Patients with TCA have a high probability of requiring a long-term stoma and this should be considered as a management option.
全结肠无神经节症（TCA）是一种罕见疾病，治疗颇具挑战性。相关结局数据稀少。我们旨在回顾我院TCA患者的人口统计学特征、治疗情况及结局。
对单一中心15年的病例记录进行回顾性研究。
共诊治9例患者（5例男性）。出生时孕周为39周（范围32.5 - 41周）。所有患者均在出生后第2天（范围1 - 6天）因低位肠梗阻转诊。2例患者接受了长期造口术。1例患者因持续性功能性肠梗阻死亡（尽管有神经节造口）。9例患者中，7例接受了分期拖出术：3例行Soave术，3例行Duhamel术，1例行Martin术，均无短期并发症。所有患者均至少因小肠结肠炎、腹泻或高造口排出量再次入院。7例患者中有4例需要进一步手术。只有1名儿童（3岁以上）实现了控便。2名儿童（均为8岁）要求重新造口以处理大便失禁问题。
在本系列研究中，我们观察到TCA患者发病率高且功能结局差，对此应有所预期。TCA患者很可能需要长期造口，应将其视为一种治疗选择。
