Mailly Marie, Baudouin Robin, Thibault Claire, Hans Stephane, Lechien Jerome R
Department of Otolaryngology-Head and Neck Surgery, Foch Hospital, School of Medicine, Paris Saclay University, Paris, France.
Department of Otolaryngology-Head and Neck Surgery, Centre Hospitalier Universitaire (CHU) de Strasbourg, Strasbourg, France.
JAMA Otolaryngol Head Neck Surg. 2025 Apr 1;151(4):396-400. doi: 10.1001/jamaoto.2024.5046.
Retrograde cricopharyngeus dysfunction (R-CPD) is an emerging disorder associated with disabling symptoms. The origin of R-CPD remains unknown.
To investigate the development of symptoms, diagnosis approach, and therapeutic outcomes of R-CPD in patients treated with in-office botulinum toxin injection (BTI) into the cricopharyngeus.
DESIGN, SETTING, AND PARTICIPANTS: This was a case series including patients with R-CPD who were consecutively and prospectively recruited from April 2022 to May 2024 in an academic hospital. Semistructured interviews were conducted to collect and analyze data on each patient's clinical history, potential causes or factors associated with R-CPD development, diagnostic approaches, and symptom presentation.
Clinic-based (in-office) BTI into the cricopharyngeus.
Associations with laryngopharyngeal reflux disease, patients' Reflux Symptom Score-12 (RSS-12), and BTI effectiveness, revisions, and complications were evaluated.
The case series comprised 106 patients with R-CPD treated with BTI (52 females [49.1%] and 54 males [51.9%]). Their mean (SD) age at symptom onset was 13.6 (7.7) years, and at diagnosis, 30.4 (6.4) years. Sixty-eight patients (64.2%) had potential congenital R-CPD, according to the parents' testimonies. A family history was reported in 18 of 62 cases (29.0%). In 105 cases (99.1%), patients made the diagnosis themselves despite medical consultations (n = 162), empirical treatments (n = 113), and additional examinations (n = 92). The cumulative success rate of BTI was 90.6% (96 of 106 patients). In 26 cases (24.5%), additional injections were administered to address the symptoms. Family history of R-CPD was a negative predictor of single-BTI success. Dysphagia was the primary adverse effect occurring after 89 of 126 BTIs (70.6%) and lasted a mean (SD) of 16.3 (12.0) days. In 10 cases, operating-room BTI was administered after primary in-office BTI.
R-CPD is an emerging and poorly known disorder associated with high rates of ineffective consultations, additional examinations, and self-diagnosis by patients. In-office BTI was associated with a high rate of partial or total symptom relief and long-term effectiveness.
环咽肌功能障碍（R-CPD）是一种新出现的与致残症状相关的疾病。R-CPD的病因尚不清楚。
研究在门诊对环咽肌进行肉毒杆菌毒素注射（BTI）治疗的R-CPD患者的症状发展、诊断方法和治疗结果。
设计、地点和参与者：这是一个病例系列，纳入了2022年4月至2024年5月在一家学术医院连续前瞻性招募的R-CPD患者。进行半结构化访谈以收集和分析每位患者的临床病史、与R-CPD发生相关的潜在原因或因素、诊断方法和症状表现的数据。
在门诊对环咽肌进行BTI。
评估与喉咽反流病的关联、患者的反流症状评分-12（RSS-12）以及BTI的有效性、再次注射和并发症。
该病例系列包括106例接受BTI治疗的R-CPD患者（52例女性[49.1%]和54例男性[51.9%]）。他们症状出现时的平均（标准差）年龄为13.6（7.7）岁，诊断时为30.4（6.4）岁。根据家长的证词，68例患者（64.2%）可能患有先天性R-CPD。62例中有18例（占29.0%）报告有家族史。在105例（99.1%）患者中，尽管进行了医学咨询（n = 162）、经验性治疗（n = 113）和额外检查（n = 92），患者仍自行做出了诊断。BTI的累积成功率为90.6%（106例患者中的96例）。26例（24.5%）患者接受了额外注射以缓解症状。R-CPD家族史是单次BTI成功的负性预测因素。吞咽困难是126次BTI中的89次（70.6%）后出现的主要不良反应，平均持续时间（标准差）为16.3（12.0）天。10例患者在首次门诊BTI后接受了手术室BTI。
R-CPD是一种新出现且鲜为人知的疾病，其特点是会诊无效、额外检查以及患者自我诊断的比例较高。门诊BTI与较高的部分或完全症状缓解率及长期有效性相关。
