Department of Pediatric Surgery, Seoul National University College of Medicine, Seoul, Republic of Korea.
Department of Pediatric Surgery, Korea University College of Medicine, Seoul, Republic of Korea.
J Pediatr Surg. 2020 Mar;55(3):387-392. doi: 10.1016/j.jpedsurg.2019.01.066. Epub 2019 Feb 23.
BACKGROUND/PURPOSE: Haddad syndrome (HS) is a very rare disease considered a form of neurocristopathy. It is characterized by a combination of congenital central hypoventilation syndrome (CCHS) and Hirschsprung's disease (HD). We report the clinical features and disease progression of HS to provide better care for HS patients by achieving an earlier diagnosis and optimal treatment.
Medical records of patients diagnosed with HS from 2005 to 2016 were retrospectively reviewed. Demographic data including gestational age, birth weight and height, and paired-like homeobox 2b (PHOX2B) gene mutation were collected.
Seven males and three females were identified (mean gestational age 39.76 ± 1.49 weeks, mean birth weight 3117.5 ± 288.9 g). PHOX2B gene mutation was identified in all patients. Immediate ventilation care after birth was required in five patients due to poor respiration. The current median age of the children is 5.4 years (range, 1.8-10.1). Tracheostomy was performed in nine patients. Eight patients required sleep ventilation and two patients, 24-h continuous ventilation support. Six patients showed rectosigmoid aganglionosis and four patients exhibited total colonic aganglionosis, of these one had aganglionosis extended to the distal small bowel. Soiling was observed in seven patients (5 with laparoscopy-assisted transanal endorectal pull-through and 2 with Duhamel procedure) and one patient showed grade 2 constipation with Duhamel procedure. Six patients had developmental delay. All patients are alive.
HS may require lifelong medical care. This study could be helpful to understand the clinical features of HS including associated abnormalities and disease progression. By assisting to understand the clinical features, we could provide better care for HS patients by achieving an earlier diagnosis and appropriate treatment.
Prognosis study.
Level IV.
背景/目的：Haddad 综合征（HS）是一种非常罕见的疾病，被认为是神经嵴病变的一种形式。其特征是先天性中枢性低通气综合征（CCHS）和先天性巨结肠（HD）的组合。我们报告 HS 的临床特征和疾病进展，以通过早期诊断和最佳治疗为 HS 患者提供更好的护理。
回顾性分析 2005 年至 2016 年诊断为 HS 的患者的病历。收集人口统计学数据，包括胎龄、出生体重和身高，以及配对同源框 2b（PHOX2B）基因突变。
共发现 7 名男性和 3 名女性（平均胎龄 39.76±1.49 周，平均出生体重 3117.5±288.9g）。所有患者均发现 PHOX2B 基因突变。由于呼吸功能差，有 5 名患者出生后立即需要通气治疗。目前儿童的中位年龄为 5.4 岁（范围 1.8-10.1 岁）。9 名患者行气管切开术。8 名患者需要睡眠通气，2 名患者需要 24 小时持续通气支持。6 名患者出现直肠乙状结肠无神经节细胞症，4 名患者出现全结肠无神经节细胞症，其中 1 例无神经节细胞症延伸至远端小肠。7 名患者（5 例经腹腔镜辅助经肛门直肠内拖出术，2 例经 Duhamel 手术）出现大便失禁，1 例经 Duhamel 手术出现 2 级便秘。6 名患者存在发育迟缓。所有患者均存活。
HS 可能需要终身医疗护理。本研究有助于了解 HS 的临床特征，包括相关异常和疾病进展。通过帮助了解临床特征，我们可以通过早期诊断和适当治疗为 HS 患者提供更好的护理。
预后研究。
IV 级。
