Torab Fawaz Chikh, Hamchou Moustafa, Ionescu Gabriel, Al-Salem Ahmed H
Division of Pediatric Surgery, Department of Surgery, Tawam Hospital, Al-Ain, Abu Dhabi, United Arab Emirates.
Pediatr Surg Int. 2012 Dec;28(12):1229-33. doi: 10.1007/s00383-012-3186-3. Epub 2012 Oct 18.
Achalasia is rare in the pediatric age group and in most cases it is idiopathic with no family history. Familial achalasia is very rare. This report describes two families with achalasia: in one, six children were affected while in the other a brother and a sister had Allgrove's syndrome (triple-A syndrome consisting of achalasia, adrenal insufficiency, and alacrima). Familial achalasia suggests that it is hereditary and may be transmitted as an autosomal recessive trait. The management of achalasia in children is still controversial. With the recent advances in minimal invasive surgery, laparoscopic Heller's myotomy is the procedure of choice in the management of achalasia in children.
贲门失弛缓症在儿童年龄组中较为罕见，在大多数情况下是特发性的，无家族病史。家族性贲门失弛缓症非常罕见。本报告描述了两个患有贲门失弛缓症的家庭：一个家庭中有六个孩子患病，另一个家庭中一个哥哥和一个妹妹患有奥尔格罗夫综合征（三联征，包括贲门失弛缓症、肾上腺功能不全和无泪症）。家族性贲门失弛缓症提示其具有遗传性，可能作为常染色体隐性性状遗传。儿童贲门失弛缓症的治疗仍存在争议。随着最近微创手术的进展，腹腔镜下赫勒肌切开术是治疗儿童贲门失弛缓症的首选方法。
