RESUMO
BACKGROUND: Ganglioneuromatosis is a rare type of benign neurogenic tumor that usually affects the sites of the major sympathetic ganglia in the retroperitoneum and the posterior mediastinum. Affection of the gastrointestinal tract is rare, and involvement of the esophagus is exceptional. To the best of our knowledge, only 4 cases of esophageal ganglioneuromatosis in adults were reported in the literature. No cases have been reported in the pediatric age group. CASE PRESENTATION: An 11-year-old boy presented with dysphagia due to severe esophageal stenosis caused by esophageal ganglioneuromatosis. CONCLUSIONS: Despite its rarity, the present case implies that ganglioneuromatosis should be considered in children with idiopathic esophageal stenosis.
Assuntos
Neoplasias Esofágicas , Estenose Esofágica , Ganglioneuroma , Humanos , Masculino , Criança , Ganglioneuroma/complicações , Ganglioneuroma/diagnóstico , Estenose Esofágica/etiologia , Neoplasias Esofágicas/complicações , Neoplasias Esofágicas/diagnóstico , Transtornos de Deglutição/etiologiaRESUMO
BACKGROUND: Congenital esophageal stenosis (CES) is a rare condition. We encountered a case of esophageal cancer that developed in an adult with persistent CES. Although many studies have investigated the therapeutic outcomes and performed surveillance for symptoms after treatment for CES, few have performed long-term surveillance or reported on the development of esophageal cancer. We report this case because it is extremely rare and has important implications. CASE PRESENTATION: A 45-year-old woman with worsening dysphagia was transferred to our hospital. The patient was diagnosed with CES at 5 years of age and underwent surgery at another hospital. The patient underwent esophageal dilatation for stenosis at 36 years of age. Esophagoscopy performed at our hospital revealed a circumferential ulcerated lesion and stenosis 15-29 cm from the incisors. Histological examination of the biopsy specimen revealed squamous cell carcinoma. Computed tomography (CT) revealed abnormal circumferential wall thickening in parts of the cervical and almost the entire thoracic esophagus. 18F-fluorodeoxyglucose-positron emission tomography-CT revealed increased uptake in the cervical and upper esophagus. No uptake was observed in the muscular layers of the middle or lower esophagus. Based on these findings, the patient was diagnosed with clinical stage IVB cervical and upper esophageal cancer (T3N1M1 [supraclavicular lymph nodes]). The patient underwent a total esophagectomy after neoadjuvant chemotherapy. The esophagus was markedly thickened and tightly adhered to the adjacent organs. Severe fibrosis was observed around the trachea. Marked thickening of the muscular layer was observed throughout the esophagus; histopathological examination revealed that this thickening was due to increased smooth muscle mass. No cartilage, bronchial epithelium, or glands were observed. The carcinoma extended from the cervical to the middle esophagus, oral to the stenotic region. Finally, we diagnosed the patient with esophageal cancer developing on CES of the fibromuscular thickening type. CONCLUSIONS: Chronic mechanical and chemical irritations are believed to cause cancer of the upper esophagus oral to a persistent CES, suggesting the need for long-term surveillance that focuses on residual stenosis and cancer development in patients with CES.
RESUMO
OBJECTIVES: To investigate the endoscopic ultrasonography (EUS) features of benign esophageal stenosis in children. METHODS: A retrospective analysis was conducted on the medical data of the children who were diagnosed with benign esophageal stenosis from February 2019 to February 2022. The clinical manifestations, EUS findings, and treatment outcome were analyzed to summarize the EUS features of benign esophageal stenosis in children. RESULTS: A total of 42 children with benign esophageal stenosis were included. Among these children, 19 (45%) had anastomotic stenosis after surgery for esophageal atresia, with unclear echogenic boundary of the esophageal walls and uneven thicknesses of the surrounding wall on EUS, and had 0-12 sessions of endoscopic treatment (average 2.1 sessions); 5 children (12%) had corrosive esophageal stenosis and 1 child (2%) had physical esophageal stenosis, with unclear stratification of the esophageal walls on EUS, and they had 2-9 sessions of endoscopic treatment (average 5.3 sessions); 1 child (2%) had patchy irregular hypoechoic areas of the esophageal walls on EUS and was diagnosed with tracheobronchial remnants with reference to pathology; 16 children (38%) had unexplained esophageal stenosis and unclear stratification of the esophageal walls on EUS, among whom 6 received endoscopic treatment. During follow-up, 95% (40/42) of the children had significant alleviation of the symptoms such as vomiting and dysphagia. CONCLUSIONS: For benign esophageal stenosis in children, EUS can help to evaluate the degree of esophageal wall involvement in esophageal stenosis lesions, possible etiologies, and the relationship between the esophagus and the lesion and provide an important basis for selecting treatment modality and avoiding complications, thereby helping to optimize the treatment regimen.
Assuntos
Transtornos de Deglutição , Estenose Esofágica , Criança , Humanos , Estenose Esofágica/diagnóstico por imagem , Estenose Esofágica/etiologia , Estenose Esofágica/terapia , Endossonografia , Estudos RetrospectivosRESUMO
PURPOSE: Congenital esophageal stenosis (CES) associated with esophageal atresia (EA) is rare, and no standard treatment has been established. We reviewed cases of EA-associated CES to assess the clinical characteristics and treatment outcomes, especially the feasibility of endoscopic dilatation. METHODS: We retrospectively examined patients with EA-associated CES. We also compared treatment outcomes of EA-associated CES with those of EA patients without CES who developed postoperative anastomotic stricture. RESULTS: Among 44 patients with EA, ten had CES (23%). Postoperative complications were not significantly different between EA patients with CES and those without CES but with anastomotic stricture. All CES patients underwent balloon dilatation as initial treatment. Eight of nine patients (89%) were successfully treated by dilatation only, and one patient underwent surgical resection. The median number of balloon dilatations for CES was five (2-17), which was higher than that for anastomotic stricture in patients without CES (p = 0.012). Esophageal perforation occurred in five patients with CES (5/9, 56%) after dilatation, but all perforations were successfully managed conservatively with an uneventful post-dilatation course. CONCLUSIONS: Twenty-three percent of patients with EA had CES. Although balloon dilatation for EA-associated CES required multiple treatments and carried a risk of perforation, balloon dilatation showed an 89% success rate and all perforations could be managed conservatively.
Assuntos
Atresia Esofágica , Estenose Esofágica , Humanos , Atresia Esofágica/complicações , Atresia Esofágica/cirurgia , Estenose Esofágica/terapia , Estenose Esofágica/cirurgia , Dilatação/efeitos adversos , Estudos Retrospectivos , Constrição Patológica/complicações , Resultado do Tratamento , Complicações Pós-Operatórias/etiologia , Anastomose Cirúrgica/efeitos adversosRESUMO
The primary treatment for early esophageal cancer and precancerous lesions is endoscopic submucosal dissection (ESD). However, this approach leads to a high incidence of postoperative esophageal stenosis, which can significantly impact a patient's quality of life. While various methods are available to prevent post-ESD esophageal stenosis, their effectiveness varies. Therefore, this study aims to provide an overview of the currently employed methods for preventing post-ESD esophageal stenosis in clinical practice in view of assisting clinical practitioners.
Assuntos
Ressecção Endoscópica de Mucosa , Neoplasias Esofágicas , Estenose Esofágica , Humanos , Estenose Esofágica/etiologia , Estenose Esofágica/prevenção & controle , Ressecção Endoscópica de Mucosa/efeitos adversos , Ressecção Endoscópica de Mucosa/métodos , Qualidade de Vida , Neoplasias Esofágicas/patologia , Complicações Pós-Operatórias/prevenção & controle , Complicações Pós-Operatórias/etiologiaRESUMO
Objective: This study aimed to establish a rat model that simulates benign esophageal strictures induced by endoscopic submucosal dissection (ESD). Materials and Methods: Sixteen male Sprague-Dawley rats were randomly divided into mucosal resection (n = 8) and sham-operated groups (n = 8). The rats in the mucosal resection group underwent a 5-mm three-fourths mucosal resection by way of a 3-mm incision in the distal esophagus under direct visualization via laparotomy. Rats in the sham-operated group underwent a 3-mm incision of the muscularis propria layer in the distal esophagus via laparotomy without mucosal resection. Dysphagia score, weight gain, mucosal constriction rate, and histology were evaluated 2 weeks after surgery. Results: Technical success was achieved in all the animals. One rat in the mucosal resection group died of infection, and no other complications were observed. Weight gain (P < 0.001) and luminal diameter derived from the esophagograms (P < 0.001) were significantly lower in the mucosal resection group than those in the sham-operated group. Dysphagia score (P < 0.001) and mucosal constriction rate (P < 0.001) were significantly higher in the mucosal resection group than those in the sham-operated group. The inflammation grade (P = 0.002), damage to the muscularis propria (P < 0.001), number of nascent microvessels (P = 0.006), and degree of α-SMA positive deposition (P = 0.006) were significantly higher in the mucosal resection group. Conclusion: A rat model of benign esophageal stricture induced by ESD was successfully and safely established by mucosal resection.
RESUMO
Esophageal cancer is the seventh most common type of cancer and the sixth leading cause of cancer -related mortality worldwide. Endoscopic submucosal dissection (ESD) is widely used for the resection of early esophageal cancer. However, post-ESD esophageal stricture is a common long-term complication, which requires attention. Patients with post-ESD esophageal stricture often experience dysphagia and require multiple dilatations, which greatly affects their quality of life and increases healthcare costs. Therefore, to manage post-ESD esophageal stricture, researchers are actively exploring various strategies, such as pharmaceutical interventions, endoscopic balloon dilation, and esophageal stenting. Although steroids-based therapy has achieved some success, steroids can lead to complications such as osteoporosis and infection. Meanwhile, endoscopic balloon dilatation is effective in the short term, but is prone to recurrence and perforation. Additionally, esophageal stenting can alleviate the stricture, but is associated with discomfort during stenting and the complication of easy displacement also present challenges. Tissue engineering has evolved rapidly in recent years, and hydrogel materials have good biodegradability and biocompatibility. A novel type of polyglycolic acid (PGA) sheets has been found to be effective in preventing esophageal stricture after ESD, with the advantages of a simple operation and low complication rate. PGA membranes act as a biophysical barrier to cover the wound as well as facilitate the delivery of medications to promote wound repair and healing. However, there is still a lack of multicenter, large-sample randomized controlled clinical studies focused on the treatment of post-ESD esophageal strictures with PGA membrane, which will be a promising direction for future advancements in this field.
RESUMO
BACKGROUND: At present, there is no unified and effective treatment for extreme corrosive esophageal stenosis (CES) with esophagotracheal fistula (ETF). This case had extreme and severe esophageal stenosis (ES) and ETF after ingesting an enzyme-based chemical detergent, resulting in a serious pulmonary infection and severe malnutrition. Upper gastrointestinal imaging showed that he had an ETF, and endoscopy showed that he had extreme and severe esophageal stricture. This case was complex and difficult to treat. According to the domestic and foreign literature, there is no universal treatment that is low-risk. CASE SUMMARY: A patient came to our hospital with extreme ES, an ETF, and severe malnutrition complicated with pulmonary tuberculosis 1 mo after the consumption of an enzyme-based detergent. The ES was serious, and the endoscope was unable to pass through the esophagus. We treated him by endoscopic incision method (EIM), esophageal stent placement (ESP), and endoscopic balloon dilation (EBD) by using the bronchoscope and gastroscope. This treatment not only closed the ETF, but also expanded the esophagus, with minimal trauma, greatly reducing the pain of the patient. According to the literature, there are no similar reported cases. CONCLUSION: We report, for the first time, a patient with extreme CES complicated with ETF, where the endoscope could not be passed through his esophagus but he could be examined by bronchoscopy and treated by EIM, ESP, and EBD.
RESUMO
Endoscopic submucosal dissection (ESD) has been widely used in the early neoplasia of the esophagus. However, postoperative esophageal stenosis is a big problem, particularly when a large circumferential proportion of esophageal mucosa is resected. Currently, there are several methods available to prevent esophageal stenosis after ESD, including steroid administration, esophageal stent implantation, and endoscopic balloon dilation (EBD). However, the therapeutic effects of these are not yet satisfactory. Stem cell-based therapies has shown promising potential in reconstructing tissue structure and restoring tissue function. In this study, we discussed the current strategies for preventing esophageal stenosis after ESD and perspectives of stem cell-based therapies for the prevention of esophageal stenosis.
RESUMO
BACKGROUND: Methods to prevent esophageal stenosis (ES) after endoscopic submucosal dissection (ESD) for superficial esophageal squamous cell carcinoma (ESCC) have received increasing attention. Although steroid administration is a prophylactic treatment, the risk factors for ES during prophylactic steroid therapy remain unknown. Therefore, this study aimed to retrospectively evaluate the risk factors for refractory ES in patients administered prophylactic steroids after ESD for ESCC. METHODS: Among 795 patients with ESCC (854 lesions), 180 patients (211 lesions) administered local triamcinolone acetonide (TrA) and/or oral prednisolone were recruited for this study. We compared the total number of endoscopic balloon dilatation (EBD) procedures performed for post-ESD ES and clinical findings (tumor size, ESD history or chemoradiation therapy [CRT], entire circumferential resection, muscle layer damage, supplemental oral prednisolone administration, EBD with TrA injection, and additional CRT) between patients with refractory and non-refractory ES. EBD was continued until dysphagia resolved. We categorized cases requiring ≥ 8 EBD procedures as refractory postoperative stenosis and divided the lesions into two groups. RESULTS: Multivariate logistic regression analysis revealed that factors such as ESD history, CRT history, tumor size, and entire circumferential resection were independently associated with the development of refractory ES. The withdrawal rates of EBD at 3 years were 96.1% (52/53) and 58.5% (39/59) in the non-refractory and refractory groups, respectively. CONCLUSIONS: Our data suggest that entire circumferential resection and CRT history are risk factors for refractory post-ESD ES in ESCC, even with prophylactic steroid administration.
Assuntos
Carcinoma de Células Escamosas , Ressecção Endoscópica de Mucosa , Neoplasias Esofágicas , Carcinoma de Células Escamosas do Esôfago , Estenose Esofágica , Humanos , Carcinoma de Células Escamosas do Esôfago/cirurgia , Estenose Esofágica/etiologia , Estenose Esofágica/prevenção & controle , Ressecção Endoscópica de Mucosa/efeitos adversos , Neoplasias Esofágicas/cirurgia , Neoplasias Esofágicas/complicações , Carcinoma de Células Escamosas/cirurgia , Carcinoma de Células Escamosas/patologia , Estudos Retrospectivos , Prednisolona/uso terapêuticoRESUMO
BACKGROUND: Esophagogastroduodenoscopy (EGD) is vital for the diagnosis and treatment of various gastrointestinal conditions but carries a low risk of venous air embolism (VAE). We report a case of VAE during EGD, confirmed by computed tomographic pulmonary angiography (CTPA). CASE: A 56-year-old male with a history of hypopharyngeal cancer underwent EGD for dysphagia-related esophageal dilation. Signs of VAE were noted, prompting swift interventions, including oxygen therapy, positional changes, and CTPA. CTPA revealed the Mercedes-Benz sign, pneumomediastinum, and a minimal pneumothorax. The patient's oxygen saturation improved within 30 min before undergoing CTPA, and he was discharged on postoperative day 4. CONCLUSIONS: Timely recognition of VAE, resulting in appropriate interventions supported by CTPA, resulted in favorable patient outcomes.
Assuntos
Embolia Aérea , Embolia Pulmonar , Masculino , Humanos , Pessoa de Meia-Idade , Embolia Pulmonar/etiologia , Embolia Pulmonar/complicações , Esofagoscopia/efeitos adversos , Embolia Aérea/diagnóstico por imagem , Embolia Aérea/etiologia , Embolia Aérea/terapia , Angiografia/efeitos adversos , Angiografia/métodosRESUMO
ABSTRACT Introduction: esophageal replacement in children is indicated when it is impossible to maintain the native esophagus, which in the pediatric population includes patients with esophageal atresia and esophageal caustic stenosis. The objective of this communication is to report the experience of a university service with two techniques of esophageal replacement. Methods: this is a retrospective study based on the revision of hospital files. The study population consisted of patients who underwent esophageal replacement from 1995 to 2022, at the Hospital de Clínicas of the State University of Campinas. The analyzed data were age, sex, underlying disease, technical aspects, complications, and long-term results. Results: during the study period, 30 patients underwent esophageal replacement. The most common underlying diseases were esophageal atresia (73.33%) and caustic stenosis (26.67%). Twenty-one patients underwent gastric transposition (70%), and nine underwent esophagocoloplasty (30%). The most frequent postoperative complication was fistula of the proximal anastomosis, which occurred in 14 patients. Most of the patients with fistulas had a spontaneous recovery. There were three deaths. Of the 27 survivors, 24 can feed exclusively by mouth. Conclusion: esophageal replacement in children is a procedure with high morbidity and mortality. Esophagocoloplasty and gastric transposition have similar results and complications, with the exception of proximal anastomotic fistulas, which are generally self-resolving and are more common in esophagocoloplasty. The choice of the best surgical technique must be individualized according to the patients characteristics and the surgeons experience, as both techniques offer the ability to feed orally in the short or medium term.
RESUMO Introdução: a substituição esofágica em crianças está indicada quando não é possível manter o esôfago nativo, o que inclui principalmente pacientes com atresia esofágica e estenose cáustica esofágica. O objetivo deste trabalho é relatar a experiência de um serviço universitário com duas técnicas de substituição esofágica, a transposição gástrica e a esofagocoloplastia. Métodos: Estudo retrospectivo baseado na revisão de arquivos hospitalares. A população do estudo foi de 30 pacientes com idade entre 6 meses e quatorze anos, submetidos à substituição esofágica, no período de 1995 a 2022, no Hospital de Clínicas da Universidade Estadual de Campinas. Os dados analisados foram idade, sexo, doença de base, aspectos técnicos, complicações e resultados a longo prazo. Resultados: As doenças de base mais comuns foram atresia de esôfago (73,33%) e estenose cáustica (26,67%). Vinte e um pacientes foram submetidos à transposição gástrica (70%) e nove à esofagocoloplastia (30%). A complicação pós-operatória mais frequente foi fístula da anastomose proximal, que ocorreu em 14 pacientes. A maioria dos pacientes com fístula teve recuperação espontânea. Houve três mortes no total. Dos 27 sobreviventes, 24 conseguem se alimentar exclusivamente por via oral. Conclusão: A substituição esofágica em crianças é um procedimento com alta morbimortalidade. Esofagocoloplastia e transposição gástrica têm resultados e complicações semelhantes, com exceção de fístulas da anastomose proximal, que são em geral auto-resolutivas e mais comuns na esofagocoloplastia. A escolha da melhor técnica cirúrgica deve ser individualizada, sendo que ambas as técnicas oferecem a capacidade de alimentação via oral a curto ou médio prazo.
RESUMO
Objective:To evaluate the efficacy and safety of endoscopic submucosal dissection (ESD) for circular superficial esophageal cancer.Methods:A retrospective analysis was conducted on 74 consecutive cases of circular superficial esophageal squamous cell carcinoma treated with ESD at Nanjing Drum Tower Hospital from January 2015 to December 2019. The success rate of ESD, curative resection rate, incidence of complications, and additional treatment were mainly observed.Results:One case was transferred to surgery, and the remaining 73 cases successfully completed ESD treatment. The success rate of ESD was 98.6%. Postoperative pathology of ESD revealed that 39 cases achieved curative resection, with a curative resection rate of 53.4% (39/73). Intraoperative muscle layer injury occurred in 15 cases (20.5%), and intraoperative perforation occurred in 1 case (1.4%). Two cases (2.7%) experienced delayed bleeding, and one case (1.4%) experienced delayed perforation. Eleven cases were lost to follow-up, and the remaining 62 cases received follow-up for 36.4±19.0 months. Among the follow-up cases, 12 underwent additional surgery and 5 cases additional chemotherapy and radiotherapy. Among the 57 patients with follow-up data who did not underwent surgery, 49 developed esophageal stenosis after ESD, with an incidence rate of 86.0%.Conclusion:ESD for circular superficial esophageal cancer is generally safe, but it is prone to muscle layer injury during the operation, with a low curative resection rate, a high incidence of postoperative esophageal stenosis, and a high proportion of additional surgical procedures.
RESUMO
Objectives: Dysphagia affects 16% of patients undergoing total laryngectomy; of these, a third is due to pharyngoesophageal stenosis. Currently, the treatment is cyclic dilation of the stricture and Montgomery Salivary Bypass Tube (MSBT) application. The aim of this study is to assess whether using Self-Expandable Metal Stent (SEMS) may give better results after a non-durable response to repeated dilatation and application of MSBT. Materials and Methods: We verified whether using SEMS after at least 3 cyclic dilations and application of MSBT results in a longer dysphagia-free time in laryngectomized patients with pharyngolesopha-geal stenosis. Secondary outcomes were the duration of the procedures, radiation exposure and complications. Results: We enrolled 6 patients with a median age of 65 years (QR 62.5 - 75.75), of which 50% had undergone radiotherapy. Friedman's test for the duration of the dysphagia-free period did not show a statistically significant difference between the two groups (Friedman chi-squared = 2.6667, df = 1, p-value = 0.1025). The time required to implant the MSBT was significantly less than that required to implant the SEMS (Friedman chi-squared = 6, df = 1, p-value = 0.01431). Radiation exposure was absent for MSBT, while SEMS implant required an exposure to X-rays during the procedure and after 48 hours for placement verification. Two patients experienced short-term complications after SEMS implantation and one after two weeks from MSBT implantation; none of them had any health consequences. Conclusion: In patients who are already undergoing cyclic dilations and application of MSBT, switching to SEMS is not beneficial. Furthermore, MSBT has a significantly shorter implant procedure, does not expose the patient to X-rays, and, in the absence of complications, has a longer duration before removal.
Assuntos
Transtornos de Deglutição , Estenose Esofágica , Humanos , Idoso , Estudos Cross-Over , Constrição Patológica , Laringectomia/efeitos adversos , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/terapia , StentsRESUMO
BACKGROUND: To assess the feasibility of a deformable self-assembled magnetic anastomosis ring (DSAMAR) in the treatment of esophageal stenosis in beagle dogs via transoral access without temporary gastrostomy. METHODS: Experimental esophageal stenosis was created in 10 beagle dogs by partial cervical esophageal ligation. The DSAMAR was inserted into the distal esophagus via the narrow section of the esophagus using a gastroscope. A circular DSAMAR was placed in the proximal esophagus. The magnetic rings on both sides of the experimental stenosis automatically attracted each other. We then recorded the operation time, postoperative complications, anastomotic formation time, and magnetic ring discharge time. The dogs were euthanized 4 weeks postoperatively; subsequently, we obtained the esophageal anastomotic specimens and observed the anastomotic formation via the naked eye and by light microscopy. RESULTS: Our esophageal stenosis model produced reproducible stenoses in all dogs, which was confirmed via endoscopy and esophagography. DSAMAR was successfully implanted in all experimental animals under endoscopic and X-ray monitoring, and all linear DSAMARs were successfully transformed into rings. The magnets at both ends of the esophageal stenosis were automatically attracted. All animals survived until euthanasia. No complications, including esophageal perforation, bleeding, and gastrointestinal obstruction, were noted during the perioperative period. The mean operation time of endoscopic magnetic anastomosis was 15.6 ± 2.41 (range, 12-19) min. The mean esophageal anastomotic formation time was 8.8 ± 1.03 (range, 7-10) days, and the mean expulsion time of DSAMAR was 13.94 ± 2.88 (range, 10-19) days. Gastroscopy and esophagography were performed at 4 weeks postoperatively; the esophageal patency was good. Macroscopic observation of the esophageal anastomotic specimens revealed that the esophageal mucosal layer of the anastomosis had good continuity and the anastomosis was smooth. CONCLUSION: DSAMAR is a feasible option for magnetic recanalization of esophageal stricture via transoral access without temporary gastrostomy.
RESUMO
Epidermolysis bullosa (EB) is a rare disorder caused by autosomal genetic variation. Its main clinical features include skin and mucous membrane blisters, erosion, repeated ulcers and scar formation. The lesions mostly involve the skin, oral cavity, digestive system and urinary system. Epidermolysis bullosa complicated with esophageal stenosis is a common gastrointestinal manifestation of this disorder. Currently, there is no cure for EB, and thus symptomatic treatment is usually applied. Here we describe the case of a patient with recessive dystrophic EB complicated with severe esophageal stenosis. The narrow segment of esophagus was removed and the free part of jejunum was transplanted into the esophageal defect to reconstruct the esophagus and restore the patient's normal swallowing. For patients with EB complicated with severe esophageal stenosis, surgical resection of the diseased esophagus and jejunal transplantation can be used to repair the esophageal and restore normal swallowing pathway, providing an effective treatment for this condition.
RESUMO
Diastrophic dysplasia (DTD) is caused by biallelic pathogenic variants in the SLC26A2 gene. We report the case of a 49-year-old female with DTD and esophageal stenosis. This broadens the phenotypic spectrum in adult patients with DTD and raises awareness of extra-skeletal manifestations that could develop in later stages of life.
RESUMO
Colonic interposition is the main procedure used in esophageal reconstruction. We report a rare case of simultaneous treatment of an anastomotic site stricture and a neoplasm in the interpositioned colon. A 69-year-old female visited our outpatient clinic with symptoms of progressive dysphagia for 1 year. At the age of 30 years, the patient underwent esophagectomy with retrosternal colonic interposition because of severe esophageal burns after chemical ingestion. Upper gastrointestinal endoscopy revealed stricture at the anastomosis site and a 10-mm flat elevated high-grade dysplasia in the interpositioned colon. First, through-the-scope balloon dilatation was performed for strictures. However, stenosis was observed during the second upper gastrointestinal endoscopy session. Therefore, a second session of through-the-scope balloon dilatation was performed, and simultaneously, endoscopic submucosal dissection was also successfully performed. After 2 months of follow-up, stenosis persisted; consequently, balloon dilatation was performed. No recurrence of neoplasm was confirmed endoscopically. Through-the-scope balloon dilatation of the stricture site and simultaneous endoscopic submucosal dissection of the neoplasm in the interpositioned colon were successfully performed.