PDF(Pubmed)
Abstract：
UNASSIGNED: This case emphasizes the need for early recognition and accurate diagnosis of achalasia in young adults to avoid exacerbation of the condition and misdiagnosis as GERD. Patient outcomes and quality of life are greatly enhanced by suitable diagnostic techniques, appropriate therapy, interdisciplinary care, and comprehensive patient education along with frequent follow-ups.
UNASSIGNED: Achalasia results from the degeneration of inhibitory ganglion cells within the esophageal myenteric plexus and the lower esophageal sphincter (LES), leading to a loss of inhibitory neurons and resulting in the absence of peristalsis with failure of LES relaxation. Its origins are multifactorial, potentially involving infections, autoimmune responses, and genetics, with equal incidence in males and females. The hallmark symptoms include progressive dysphagia for solids and liquids, along with regurgitation, heartburn, and non-cardiac chest pain. A 22-year-old female patient initially diagnosed with gastroesophageal reflux disease (GERD) received proton pump inhibitors and antacid gel for persistent dysphagia and regurgitation. Subsequent tests including barium esophagogram and manometry indicated Type II Achalasia Cardia. The patient showed clinical improvement with relief of dysphagia, regurgitation, and heartburn symptoms after pneumatic balloon dilatation (PBD). She was advised to follow up after 6 months with upper gastrointestinal (UGI) endoscopy and manometry in the outpatient clinic for regular endoscopic surveillance as there is a risk of transformation to esophageal carcinoma. Diagnosing achalasia in young adults poses challenges due to its diverse presentation and resemblance to other esophageal disorders like GERD. Diagnosis relies on clinical symptoms and imaging studies such as barium esophagogram revealing a bird\'s beak appearance and esophageal manometry showing absent peristalsis. UGI endoscopy is needed to rule out malignancy. Treatment options include non-surgical approaches like medication and Botox injections, as well as surgical methods such as pneumatic balloon dilation, laparoscopic Heller myotomy, and per-oral endoscopic myotomy (POEM). The treatment options depend upon the patient\'s condition at presentation and their individual choices. This case report emphasizes that it is crucial to consider achalasia as a potential differential diagnosis in young adults with dysphagia, especially if conventional treatments for acid peptic disorder do not alleviate symptoms. Prompt diagnosis and appropriate management can lead to significant clinical improvement and better patient outcomes.
UNASSIGNED: Achalasia results from the degeneration of inhibitory ganglion cells within the esophageal myenteric plexus and the lower esophageal sphincter (LES), leading to a loss of inhibitory neurons and resulting in the absence of peristalsis with failure of LES relaxation. Its origins are multifactorial, potentially involving infections, autoimmune responses, and genetics, with equal incidence in males and females. The hallmark symptoms include progressive dysphagia for solids and liquids, along with regurgitation, heartburn, and non-cardiac chest pain. A 22-year-old female patient initially diagnosed with gastroesophageal reflux disease (GERD) received proton pump inhibitors and antacid gel for persistent dysphagia and regurgitation. Subsequent tests including barium esophagogram and manometry indicated Type II Achalasia Cardia. The patient showed clinical improvement with relief of dysphagia, regurgitation, and heartburn symptoms after pneumatic balloon dilatation (PBD). She was advised to follow up after 6 months with upper gastrointestinal (UGI) endoscopy and manometry in the outpatient clinic for regular endoscopic surveillance as there is a risk of transformation to esophageal carcinoma. Diagnosing achalasia in young adults poses challenges due to its diverse presentation and resemblance to other esophageal disorders like GERD. Diagnosis relies on clinical symptoms and imaging studies such as barium esophagogram revealing a bird\'s beak appearance and esophageal manometry showing absent peristalsis. UGI endoscopy is needed to rule out malignancy. Treatment options include non-surgical approaches like medication and Botox injections, as well as surgical methods such as pneumatic balloon dilation, laparoscopic Heller myotomy, and per-oral endoscopic myotomy (POEM). The treatment options depend upon the patient\'s condition at presentation and their individual choices. This case report emphasizes that it is crucial to consider achalasia as a potential differential diagnosis in young adults with dysphagia, especially if conventional treatments for acid peptic disorder do not alleviate symptoms. Prompt diagnosis and appropriate management can lead to significant clinical improvement and better patient outcomes.
摘要：
■该病例强调需要早期识别和准确诊断年轻人的门失弛缓症，以避免病情加重和误诊为GERD。通过适当的诊断技术，患者的预后和生活质量大大提高。适当的治疗,跨学科护理,和全面的患者教育以及频繁的随访。
■贲门失弛缓症是由食管肌间神经丛和食管下括约肌（LES）内抑制性神经节细胞变性引起的，导致抑制性神经元丢失，并导致缺乏蠕动，导致LES松弛失败。它的起源是多方面的，可能涉及感染，自身免疫反应，和遗传学，男性和女性发病率相等。标志性症状包括固体和液体的进行性吞咽困难，随着反流，胃灼热,和非心源性胸痛。一名22岁的女性患者最初被诊断患有胃食管反流病（GERD），接受了质子泵抑制剂和抗酸凝胶治疗持续性吞咽困难和反流。随后的检查包括钡食管造影和测压显示为II型贲门失弛缓症。患者表现出临床改善，吞咽困难缓解，返流,气囊扩张术（PBD）后出现烧心症状。建议她在6个月后在门诊进行上消化道（UGI）内窥镜检查和压力测量，以进行定期的内镜监测，因为有转变为食管癌的风险。由于其多样化的表现以及与GERD等其他食道疾病的相似性，在年轻人中诊断门失弛缓症提出了挑战。诊断依赖于临床症状和影像学检查，如食管钡造影显示鸟的喙外观和食管测压显示缺乏蠕动。需要UGI内镜检查以排除恶性肿瘤。治疗选择包括非手术方法，如药物和肉毒杆菌注射，以及气动球囊扩张术等手术方法，腹腔镜Heller肌切开术,和经口内镜肌切开术（POEM）。治疗方案取决于患者的病情和他们的个人选择。该病例报告强调，将门失弛缓症视为吞咽困难的年轻人的潜在鉴别诊断至关重要。特别是如果酸消化性疾病的常规治疗不能缓解症状。及时的诊断和适当的管理可以导致显著的临床改善和更好的患者预后。
■贲门失弛缓症是由食管肌间神经丛和食管下括约肌（LES）内抑制性神经节细胞变性引起的，导致抑制性神经元丢失，并导致缺乏蠕动，导致LES松弛失败。它的起源是多方面的，可能涉及感染，自身免疫反应，和遗传学，男性和女性发病率相等。标志性症状包括固体和液体的进行性吞咽困难，随着反流，胃灼热,和非心源性胸痛。一名22岁的女性患者最初被诊断患有胃食管反流病（GERD），接受了质子泵抑制剂和抗酸凝胶治疗持续性吞咽困难和反流。随后的检查包括钡食管造影和测压显示为II型贲门失弛缓症。患者表现出临床改善，吞咽困难缓解，返流,气囊扩张术（PBD）后出现烧心症状。建议她在6个月后在门诊进行上消化道（UGI）内窥镜检查和压力测量，以进行定期的内镜监测，因为有转变为食管癌的风险。由于其多样化的表现以及与GERD等其他食道疾病的相似性，在年轻人中诊断门失弛缓症提出了挑战。诊断依赖于临床症状和影像学检查，如食管钡造影显示鸟的喙外观和食管测压显示缺乏蠕动。需要UGI内镜检查以排除恶性肿瘤。治疗选择包括非手术方法，如药物和肉毒杆菌注射，以及气动球囊扩张术等手术方法，腹腔镜Heller肌切开术,和经口内镜肌切开术（POEM）。治疗方案取决于患者的病情和他们的个人选择。该病例报告强调，将门失弛缓症视为吞咽困难的年轻人的潜在鉴别诊断至关重要。特别是如果酸消化性疾病的常规治疗不能缓解症状。及时的诊断和适当的管理可以导致显著的临床改善和更好的患者预后。
