Palazzo Francesco, Puglia Salvatore, Ciaccio Giovanni, Ferrara Davide, Piazza Diego
Division of Surgery, A.O.U. Policlinico, Vittorio Emanuele, Catania, Italy.
Surg Laparosc Endosc Percutan Tech. 2011 Oct;21(5):e266-9. doi: 10.1097/SLE.0b013e3182297667.
Achalasia is an esophageal motility disorder for which the pathophysiology is only partially known for the idiopathic subtype. Many factors are known to be involved with the development of secondary achalasia. Neurofibromatosis is one of the most common autosomal dominant conditions affecting the nervous system, and 25% of those with the disease have been reported to have involvement of the gastrointestinal tract. Three cases of association between neurofibromatosis and achalasia have been reported in the literature so far. Laparoscopic Heller myotomy is the gold standard surgical treatment for patients with achalasia, whereas esophagectomy is reserved for the more advanced stages of disease. There have been reports of successful long-term results in patients with stage IV achalasia treated with Heller myotomy. We report the fourth case in the literature of association between achalasia and neurofibromatosis; it is the first time that such an association is successfully treated with laparoscopic Heller myotomy.
贲门失弛缓症是一种食管动力障碍性疾病，其特发性亚型的病理生理学仅部分为人所知。已知许多因素与继发性贲门失弛缓症的发生有关。神经纤维瘤病是影响神经系统的最常见的常染色体显性遗传病之一，据报道，25%的患者累及胃肠道。迄今为止，文献中已报道了3例神经纤维瘤病与贲门失弛缓症相关的病例。腹腔镜下Heller肌切开术是贲门失弛缓症患者的金标准手术治疗方法，而食管切除术则适用于疾病的更晚期阶段。有报道称，采用Heller肌切开术治疗IV期贲门失弛缓症患者可取得长期成功的结果。我们报告了文献中第四例贲门失弛缓症与神经纤维瘤病相关的病例；这是首次通过腹腔镜下Heller肌切开术成功治疗这种关联。
