El Marzouki Nisrine, Alaoui-Inboui Fatima Zahra, Slaoui Bouchra
Pediatric Pneumo-Allergology Unit, Pediatric Department 2, Hôpital Mère-Enfant Abderrahim Harouchi, Centre Hospitalier Universitaire Ibn Rochd, Casablanca, MAR.
Cureus. 2024 Jun 5;16(6):e61722. doi: 10.7759/cureus.61722. eCollection 2024 Jun.
Kartagener's syndrome is an uncommon autosomal recessive ciliary dyskinesia. It combines a triad comprised of bronchiectasis, chronic sinusitis, and situs inversus. This work aims to describe the clinical and paraclinical aspects of primary ciliary dyskinesia using Kartagener's syndrome as a model and to highlight the difficulties of confirming the diagnosis in our context. We report four observations (three boys and one girl with an average age of 10 years) of Kartagener's syndrome collected in the department of pediatric pneumo-allergology. Chronic bronchorrhea and otorhinolaryngological manifestations were found in all cases. Signs of neonatal respiratory distress syndrome were found in only one case. One child had dysmorphic facial features suggestive of Noonan's syndrome and conductive hearing loss. Digital hippocratism was found in half of the cases, along with pulmonary crackles and heart sounds perceived on the right. A chest CT scan showed bronchiectasis in all patients and necrotic adenopathy suggestive of tuberculosis in one case. Sinus imaging showed an appearance of pansinusitis. All children had abdominal situs inversus with dextrocardia. They had received antibiotic therapy with amoxicillin-clavulanic acid associated with respiratory physiotherapy. The girl had benefited from a right lobectomy with a follow-up of 18 months and a good evolution. In light of these four observations, Kartagener's syndrome is a rare disease but can be compatible with normal life if the treatment is done early. However, in our context, the difficulty of confirming the diagnosis explains its delay with the risk of progression of pulmonary lesions.
卡塔格内综合征是一种罕见的常染色体隐性遗传性纤毛运动障碍疾病。它合并了由支气管扩张、慢性鼻窦炎和内脏转位组成的三联征。这项研究旨在以卡塔格内综合征为模型描述原发性纤毛运动障碍的临床和辅助检查方面,并强调在我们的环境中确诊的困难。我们报告了在儿科呼吸过敏科收集的4例卡塔格内综合征病例(3名男孩和1名女孩,平均年龄10岁)。所有病例均发现慢性支气管溢液和耳鼻喉科表现。仅1例发现新生儿呼吸窘迫综合征的体征。1名儿童有提示努南综合征的面部畸形特征和传导性听力损失。半数病例发现杵状指,同时可闻及肺部啰音和右侧心音。胸部CT扫描显示所有患者均有支气管扩张,1例有提示结核的坏死性淋巴结病。鼻窦影像学显示全鼻窦炎表现。所有儿童均有腹部脏器转位伴右位心。他们接受了阿莫西林-克拉维酸联合呼吸物理治疗的抗生素治疗。该女孩接受了右肺叶切除术,随访18个月,病情进展良好。鉴于这4例病例,卡塔格内综合征是一种罕见疾病,但如果早期进行治疗,可与正常生活相容。然而,在我们的环境中,确诊的困难解释了其诊断延迟以及肺部病变进展的风险。