AME Case ReportsPub Date : 2025-03-11eCollection Date: 2025-01-01DOI: 10.21037/acr-24-207
Xiqi Liu, Cheng Quan, Yu Wang
{"title":"An extremely rare case of Rosai-Dorfman-Destombes disease in the spleen with secondary thrombocytopenia: a case report.","authors":"Xiqi Liu, Cheng Quan, Yu Wang","doi":"10.21037/acr-24-207","DOIUrl":"https://doi.org/10.21037/acr-24-207","url":null,"abstract":"<p><strong>Background: </strong>Rosai-Dorfman-Destombes disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare, multisystemic histiocytic disorder. It can affect multiple organs, including bones, the brain, nasal cavities, and breasts. But, RDD in the spleen with secondary thrombocytopenia is extremely rare. This report aimed to show some new symptoms to help in the early diagnosis of this disease.</p><p><strong>Case description: </strong>A 68-year-old female patient presented with abdominal discomfort for over 2 months. Positron emission tomography-computed tomography (PET-CT) examination revealed multiple splenic lesions with no significant abnormalities elsewhere. The patient had a history of rheumatoid arthritis and diabetes. Physical examination showed no significant abnormalities. Blood tests upon admission revealed a platelet count of 39×10<sup>9</sup> cells/L. An elective laparoscopic splenectomy was performed in April 2024. Postoperative pathology and immunohistochemistry suggested RDD. Based on the lab reports and clinical manifestations, the patient was diagnosed with splenic primary RDD with secondary thrombocytopenia. The patient was followed up regularly, and the platelet level recovered to 222×10<sup>9</sup> cells/L 1-month post-surgery, confirming the cause of thrombocytopenia as secondary to splenic RDD. No significant abnormalities were found on abdominal CT 5 months post-surgery. Preoperative diagnosis of RDD remains challenging, especially for abdominal primary RDD, as percutaneous biopsy is difficult and imaging studies lack specific features, making the diagnosis still dependent on postoperative pathology and immunohistochemistry.</p><p><strong>Conclusions: </strong>This case indicates that in patients with multiple splenic space-occupying lesions and thrombocytopenia, particularly with a history of rheumatoid arthritis, the potential for this illness should be contemplated, even in the absence of conventional RDD lymph node symptoms.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"57"},"PeriodicalIF":0.7,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053440/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144039376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
AME Case ReportsPub Date : 2025-03-11eCollection Date: 2025-01-01DOI: 10.21037/acr-24-103
Shuanglian Zhu, Nianyu Xue
{"title":"Pilomatricoma of the breast similar to breast cancer on ultrasound and elastography: a case report.","authors":"Shuanglian Zhu, Nianyu Xue","doi":"10.21037/acr-24-103","DOIUrl":"https://doi.org/10.21037/acr-24-103","url":null,"abstract":"<p><strong>Background: </strong>Pilomatricoma, also known as calcifying epithelioma of Malherbe, is a benign tumor originating from human hair follicle stem cells and commonly observed in adolescents. Pilomatricomas can arise in any region with hair follicles, typically presenting as solitary lesions, predominantly affecting the facial region. Clinically, they manifest as firm, painless nodules, with both pathological and ultrasonographic findings often revealing calcifications. We report a rare case of pilomatricoma located on the breast, which exhibits characteristics are similar to breast cancer. Combining with ultrasound and elastography may provide some references for clinical diagnosis.</p><p><strong>Case description: </strong>We report a case of pilomatricoma located on the 47-year-old female breast, characterized by multiple punctate hyperechoic foci internally, presenting as a firm, non-tender mass on palpation and elastography. Without seeking treatment, she experienced pain in the lump two weeks before presentation. After applying an unspecified anti-inflammatory ointment, the lump markedly increased. Therefore, the rapid enlargement of the mass within a short period raised clinical suspicion of breast cancer, leading to surgical excision, which subsequently confirmed pilomatricoma through histopathological examination.</p><p><strong>Conclusions: </strong>Pilomatricomas occurring on the breast may present clinically and ultrasonographically similar to breast cancer, necessitating a focus on distinguishing between the two entities based on layer-derived differentiation on ultrasound and elastography.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"46"},"PeriodicalIF":0.7,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Chorioretinal involvement in a patient with paracoccidioidomycosis: a case report.","authors":"Adriano Cypriano Faneli, Pamella Consonni Morello, Pedro Fernandes Souza Neto, Ricardo Danilo Chagas Oliveira, Cristina Muccioli","doi":"10.21037/acr-24-201","DOIUrl":"https://doi.org/10.21037/acr-24-201","url":null,"abstract":"<p><strong>Background: </strong>Paracoccidioidomycosis is a systemic fungal infection endemic to Latin America, with limited reports of ocular involvement. This case is unique for presenting chorioretinal lesions without vision loss, highlighting the importance of ophthalmologic evaluation in patients diagnosed with Paracoccidioidomycosis. Early antifungal treatment is crucial for preventing severe outcomes.</p><p><strong>Case description: </strong>A 58-year-old male, previously diagnosed with Paracoccidioidomycosis through a skin biopsy, presented with palpebral lesions and mild keratitis in the right eye (OD) and chorioretinal lesions in the left eye (OS) upon fundoscopic examination. Optical coherence tomography (OCT) of macula revealed characteristic chorioretinal lesions in the OS, indicative of a fungal infection. Despite the ocular findings, visual acuity remained unaffected. Diagnosis was established based on the patient's medical history of fungal infection, epidemiology, and ophthalmological findings. The patient was treated with systemic Amphotericin B followed by sulfamethoxazole-trimethoprim that resulted in notable improvements either in the palpebral cutaneous lesions of the OD and the chorioretinal lesion observed in OS.</p><p><strong>Conclusions: </strong>This case highlights the critical role of ophthalmologic evaluation in diagnosing and managing rare complications of systemic paracoccidioidomycosis. Early intervention with appropriate systemic antifungal therapy can significantly improve outcomes, preserving vision and mitigating systemic complications. Enhanced awareness among clinicians in endemic areas is essential for timely diagnosis and management.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"55"},"PeriodicalIF":0.7,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144039899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Isolated gastric metastasis of endometrioid carcinoma: a case report and literature review.","authors":"Wuming Zhu, Luanbiao Sun, Xinyuan Song, Ruizhi Hou, Shuohui Gao","doi":"10.21037/acr-24-217","DOIUrl":"https://doi.org/10.21037/acr-24-217","url":null,"abstract":"<p><strong>Background: </strong>Isolated parenchymal gastric metastasis of endometrial cancer without other recurrence sites is extremely rare. This report presents a case of isolated gastric metastasis from endometrioid carcinoma characterized by a giant ulcer, which was managed with radical resection. Additionally, we review the recently published literature regarding isolated gastric metastases originating from ovarian and endometrial cancers.</p><p><strong>Case description: </strong>A 60-year-old female was admitted with discomfort in the upper abdomen accompanied by melena and a 6-year history of ovarian and endometrial cancer. Gastroscopy revealed a giant ulcer located in the gastric body, and biopsy pathology indicated a reproductive system origin. Subsequent <sup>18</sup>F-fluorodeoxyglucose positron emission tomography/computed tomography (<sup>18</sup>F-FDG PET/CT) revealed a hypermetabolic lesion within the gastric wall on the lesser curvature [standardized uptake value (SUV): 23.23]. Final pathology following total gastrectomy confirmed the presence of an isolated gastric metastasis tumor originating from primary endometrial endometrioid carcinoma. The patient was discharged 11 days postsurgery and exhibited no signs of recurrence or metastasis during a 3-month postoperative follow-up.</p><p><strong>Conclusions: </strong>Early diagnosis and treatment are paramount for identifying metastatic gastric lesions. If surgery is feasible and safe, cytoreductive surgery followed by adjuvant chemotherapy represents an effective and widely endorsed treatment approach, significantly improving patient prognosis and enhancing long-term survival rates.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"58"},"PeriodicalIF":0.7,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144018912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Retrograde growing intravenous leiomyomatosis-a case report.","authors":"Jinrong Xiong, Shan Zhang, Wanying Wu, Peng Zhou, Xiaoyu Qi, Gezheng Chen, Fei Cai, Binbin Long, Qin Li, Chao Yang","doi":"10.21037/acr-24-196","DOIUrl":"https://doi.org/10.21037/acr-24-196","url":null,"abstract":"<p><strong>Background: </strong>Leiomyomatosis is a benign tumor that usually originates from smooth muscle cells and can appear at any location. Intravenous leiomyomatosis (IVL) usually grows along blood vessels and extends toward the iliac vein and the inferior vena cava (IVC). It extends toward the right heart cavity and the main pulmonary artery in extreme cases. IVL is a rare smooth muscle tumor that is histologically benign but clinically aggressive. It is not typical for IVL to develop metastases, but rather to grow progressively and cause mechanical compression in surrounding.</p><p><strong>Case description: </strong>We report a case of retrogradely growing IVL, originating in the uterus and extending along the venous system to the right heart. At the same time, this leiomyomatosis retrogrades into the right external iliac vein. A 48-year-old woman with a mass in the IVC was admitted to Wuhan Union Hospital. She had undergone a hysterectomy for fibroids 2 years previously. Computed tomography venography and three-dimensional reconstruction revealed filling defects in the IVC, right internal and external iliac veins, right common iliac vein, right renal vein, and right atrium. After a multidisciplinary consultation, IVC leiomyomatosis was considered, and surgical treatment was performed.</p><p><strong>Conclusions: </strong>We report a case of retrogradely growing IVL. It originates in the uterus, extends along the venous system to the right internal iliac vein, and grows retrogradely into the external iliac vein. This is a new growth path that has rarely been mentioned.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"54"},"PeriodicalIF":0.7,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144048222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
AME Case ReportsPub Date : 2025-03-07eCollection Date: 2025-01-01DOI: 10.21037/acr-24-41
Eric Chun-Pu Chu
{"title":"Regional interdependence between senile kyphosis and cervical postural syndrome: a case report.","authors":"Eric Chun-Pu Chu","doi":"10.21037/acr-24-41","DOIUrl":"https://doi.org/10.21037/acr-24-41","url":null,"abstract":"<p><strong>Background: </strong>Although senile kyphosis may not be the primary reason older people seek medical attention, it can cause functional difficulties and associated health risks. Kyphotic curvature can be alleviated through conservative measures, which are also a viable option to relieve the discomfort caused by the abnormalities. This case study describes successful multimodal chiropractic treatment for senile kyphosis and cervical postural syndrome. The purpose of this manuscript is to provide evidence for the concept of regional interdependence between senile kyphosis and cervical postural syndrome. This is achieved by demonstrating the positive outcome of a multimodal chiropractic intervention performed over 24 months.</p><p><strong>Case description: </strong>This case study involves a 60-year-old female office manager who had been suffering from neck and right shoulder pain for five years. Her family doctor diagnosed her with cervical spondylosis with cervical syndrome based on radiographic findings. She took pain medication for a year, underwent ten physiotherapy sessions and monthly massage therapy. This did not alleviate her problems, but caused her head slowly droop forward. EOS<sup>®</sup> radiography at the first chiropractic consultation showed reverse lordosis of the cervical spine, degeneration of the C4/5, C5/6, L3/4, L4/5, and L5/S1 intervertebral discs, and marginal osteophytes. A working diagnosis of age-related hyperkyphosis and cervical postural syndrome was made based on the main symptoms and clinical findings. After a 24-month multimodal chiropractic treatment program, the corrected thoracic curvature resulted in the simultaneous remission of cervical symptoms.</p><p><strong>Conclusions: </strong>Given the high prevalence of age-related kyphosis among non-care seeking individuals and its rehabilitation potential, early intervention in senile kyphosis may help reduce the functional burdens and associated health problems.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"52"},"PeriodicalIF":0.7,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144041655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
AME Case ReportsPub Date : 2025-03-07eCollection Date: 2025-01-01DOI: 10.21037/acr-24-156
Yongkang Huang, Yajuan Qian, Ziyan Du, Yong Yu
{"title":"A case report of acute hepatic and renal failure associated with savolitinib treatment in advanced lung adenocarcinoma.","authors":"Yongkang Huang, Yajuan Qian, Ziyan Du, Yong Yu","doi":"10.21037/acr-24-156","DOIUrl":"https://doi.org/10.21037/acr-24-156","url":null,"abstract":"<p><strong>Background: </strong>Savolitinib, a novel inhibitor of mesenchymal-epithelial transition factor (MET), has demonstrated significant efficacy and an acceptable safety profile, leading to its approval in China for advanced non-small cell lung cancer (NSCLC) patients with MET exon 14 skipping alterations. Despite its therapeutic benefits, reports of severe adverse effects, including acute hepatic failure and renal failure, remain scarce. This report presents a rare case of a lung adenocarcinoma patient who developed acute hepatic and renal failure following treatment with savolitinib.</p><p><strong>Case description: </strong>The patient was a 62-year-old woman diagnosed with advanced lung adenocarcinoma (T4N1M1a, IVa stage) with confirmed MET exon 14 skipping alterations. She initiated oral savolitinib at a dosage of 600 mg per day after diagnosis, when initial blood tests indicated normal liver and renal function. However, within a month, she began experiencing symptoms of vomiting, decreased appetite, irritability, and restlessness. These symptoms progressed, leading to her hospital admission, where acute hepatic and renal failure were diagnosed. Tests for antibodies associated with autoimmune hepatitis and viral hepatitis were negative, and liver ultrasound revealed a normal-sized liver without gallbladder or pigmented bile duct stones. Renal ultrasound showed enhanced echogenicity in the renal cortex. Unfortunately, the patient succumbed to her illness two days after admission, despite supportive measures including continuous renal replacement therapy.</p><p><strong>Conclusions: </strong>This case underscores the importance of monitoring liver and kidney function in patients receiving savolitinib to facilitate the early detection and management of potentially fatal adverse reactions.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"51"},"PeriodicalIF":0.7,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053720/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
AME Case ReportsPub Date : 2025-03-04eCollection Date: 2025-01-01DOI: 10.21037/acr-24-187
Qian Ouyang, Yuxiang Zhou, Yongkai Huang
{"title":"Trauma-induced recurrent of scalp dermatofibrosarcoma protuberans: a case report with a 6-year follow-up and literature review.","authors":"Qian Ouyang, Yuxiang Zhou, Yongkai Huang","doi":"10.21037/acr-24-187","DOIUrl":"https://doi.org/10.21037/acr-24-187","url":null,"abstract":"<p><strong>Background: </strong>Dermatofibrosarcoma protuberans (DFSP) is a rare mesenchymal cell-derived soft tissue tumor, especially on the scalp. As a result, there is a lack of insight into the etiology of its occurrence and the triggers of its recurrence, which makes diagnosis difficult. This paper reports a case with a long follow-up period in an attempt to provide some valuable evidence-based medicine to assist in the clinical work-up of diagnostic.</p><p><strong>Case description: </strong>We selected a young male who underwent surgical treatment in our hospital in 2013, and his pathological result at that time was \"suspected dermatofibrosarcoma protuberans\". At the same time, we followed the patient for 6 years and performed a literature review on the current management of DFSP. Six years later, the patient's scalp mass recurred after a head trauma. Based on the patient's medical history and pathogenesis of the disease, we believe that the patient's disease may be related to trauma.</p><p><strong>Conclusions: </strong>DFSP is rare in clinic, and it is easy to be misdiagnosed because of its atypical clinical symptoms and long diagnosis time. This article analyzed the case which has a long-time follow-up and reviewed the literature on DFSP. Therefore, this paper finds that trauma may be a causative factor in the development and recurrence, and provides a basis for evidence-based medicine for the diagnosis and treatment of this disease.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"48"},"PeriodicalIF":0.7,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
AME Case ReportsPub Date : 2025-02-18eCollection Date: 2025-01-01DOI: 10.21037/acr-24-139
Nathalie Eid, Aderonke Badewa, Tristan Charran, Chaya Rothschild, Michael Werner, Bobby Najari
{"title":"Extended sperm search and microfreeze for fertility preservation after long-term hormone therapy in transgender women: a report of three cases.","authors":"Nathalie Eid, Aderonke Badewa, Tristan Charran, Chaya Rothschild, Michael Werner, Bobby Najari","doi":"10.21037/acr-24-139","DOIUrl":"https://doi.org/10.21037/acr-24-139","url":null,"abstract":"<p><strong>Background: </strong>Many barriers prevent transgender women (TW) from fertility preservation (FP) prior to initiating gender-affirming hormones. The decision to move forward with gender affirming bottom surgery presents the last opportunity for these patients to preserve their ability to have genetically related children. However, oftentimes these patients will have azoospermia even after stopping their hormone therapy for an extended period due to the negative effects of these hormones on fertility. The objective of this case report is to investigate a novel method of FP in TW on longstanding gender-affirming hormone therapy who present with azoospermia on conventional semen analysis.</p><p><strong>Case description: </strong>Three TW on gender-affirming hormone therapy for between 6-21 years presented for FP prior to gender affirming vaginoplasty with simultaneous orchiectomy. All three patients had azoospermia on conventional semen analysis. Extended sperm search and microfreeze (ESSM) was conducted on semen samples. Results, including sperm count, number of vitrified sperm, and number of SpermVDs, were obtained. Conventional testicular sperm extraction (TESE) was also performed on two of the patients. Two out of three patients successfully retrieved and cryopreserved sperm after ESSM procedure. One patient had a successful ESSM despite not having any sperm on testicular tissue analysis.</p><p><strong>Conclusions: </strong>The findings from this case study underscore the potential use for ESSM as a tool for FP in TW who have undergone multiple years of hormonal therapy and have unsuccessful semen analyses and testicular extractions. Future studies with larger cohorts are necessary to validate the efficacy of ESSM and explore its potential application as a standard practice in transgender healthcare, particularly for those who cannot completely cease hormone therapy.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"40"},"PeriodicalIF":0.7,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053889/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144039806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
AME Case ReportsPub Date : 2025-02-18eCollection Date: 2025-01-01DOI: 10.21037/acr-24-149
Baraa Ibrahim Awad, Bassam AlRajhi, Abdullah Alkhaldi, Fahad Alsaab
{"title":"Type 1 laryngeal cleft management: a pediatric tertiary care center case series.","authors":"Baraa Ibrahim Awad, Bassam AlRajhi, Abdullah Alkhaldi, Fahad Alsaab","doi":"10.21037/acr-24-149","DOIUrl":"https://doi.org/10.21037/acr-24-149","url":null,"abstract":"<p><strong>Background: </strong>Type 1 laryngeal cleft (LC) is a congenital condition that can present with coughing, choking, and aspiration. There are several management options, including laryngoplasty injections and endoscopic laser surgery. We aimed to review the clinical presentations, investigations, comorbidities, management options, recurrence, and outcomes of patients with type 1 LC in our pediatric tertiary center.</p><p><strong>Case description: </strong>Six patients with LC type 1 were included in this case series. Their mean age was 22.5 months [standard deviation (SD): 17.1]. All patients were male, except for one. The mean weight was 12.2 kg (SD: 5.3). The mean height was 84.2 cm (SD: 23.9). All patients experienced cough and choking with feeding. Of the six patients, five had no airway symptoms and one had a stridor. In our tertiary care hospital, we initially managed patients with type 1 LC with hyaluronic acid injections for a few months, depending on the severity of the condition, followed by follow-up of the patient. If coughing and/or choking reoccur or persists, surgical repair is the next management option. Although conservative therapy has been useful for 36% of patients with type 1 LC, endoscopic surgical repair remains the optimal management choice. We advocate for injection laryngoplasty as a trial to confirm the diagnosis and anticipated benefit from endoscopic surgical repairs as it offers less invasive management option and decreases the risk of developing potentially life-threatening complications.</p><p><strong>Conclusions: </strong>Type 1 LC is a rare congenital condition that can be managed using injections. However, endoscopic laser repair remains the gold standard treatment for type 1 LC. The risk of recurrence after initial hyaluronic acid administration is high; however, recurrent symptoms can be treated with endoscopic laser repair.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"37"},"PeriodicalIF":0.7,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}