{"title":"Management and Long-Term Monitoring of a Young Patient with Pheochromocytoma and RET Mutation: A Case Report.","authors":"Qingqing Zhang, Xue Wei, Jing Zheng, Bangkui Xu, Yu Lu, Shufang Yang, Yucheng Wu","doi":"10.2147/IMCRJ.S504562","DOIUrl":"10.2147/IMCRJ.S504562","url":null,"abstract":"<p><strong>Background: </strong>Pheochromocytoma is a rare catecholamine-secreting tumor that can present with severe hypertensive episodes and other symptoms due to excessive catecholamine release. Approximately 30% of pheochromocytomas are associated with hereditary syndromes, including multiple endocrine neoplasia type 2A (MEN2A), an autosomal dominant disorder caused by mutations in the RET proto-oncogene. MEN2A is characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, and primary hyperparathyroidism.</p><p><strong>Case presentation: </strong>We report the case of a 19-year-old female who presented with pheochromocytoma without experiencing a crisis, despite having a significant adrenal mass and undergoing high-dose glucocorticoid treatment. Genetic testing revealed a heterozygous missense mutation in the RET gene (c.1900T > C: p. Cys634Arg), associated with MEN2A. Further endocrine evaluation identified a thyroid nodule with mildly elevated calcitonin levels, but normal electrolyte and parathyroid hormone levels. Over a 15-month postoperative follow-up, the patient exhibited persistently mild hypercalcitoninemia with stable thyroid nodule size, while PTH and serum calcium levels showed a progressive increase. Further parathyroid scintigraphy using 99mTc-MIBI was performed, yielding a negative result for parathyroid adenoma.</p><p><strong>Conclusion: </strong>Patients with MEN2A require comprehensive, long-term follow-up to monitor for recurrence of pheochromocytoma and the development of additional endocrine neoplasms. This case highlights the role of genetic testing in guiding the management of hereditary pheochromocytoma and supports the importance of personalized monitoring strategies in patients with MEN2A.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"395-404"},"PeriodicalIF":0.7,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143752600","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":"Two Cases of Late Diagnosis Pituitary Stalk Interruption Syndrome and Literature Review.","authors":"Malak Alkhalifa, Zaenb Alsalman, Abdulmohsen Al Elq, Zahra Al-Khadrawi, Huda Radwan","doi":"10.2147/IMCRJ.S507989","DOIUrl":"10.2147/IMCRJ.S507989","url":null,"abstract":"<p><strong>Background: </strong>Pituitary stalk interruption syndrome (PSIS) is a rare congenital condition that includes the triad of a thin pituitary stalk, an ectopic posterior pituitary gland, and an absent or hypoplastic anterior pituitary gland and is usually diagnosed in infancy. This report presents two cases of late diagnosis of PSIS and a literature review of the relevant cases. The objective is to update data on such an uncommon syndrome to avoid the consequences of pituitary dysfunction including short stature, impaired cognitive function, negative impact on bone health, adrenal crises and delayed puberty.</p><p><strong>Case report: </strong>In this paper, we report on two cases of late diagnosis of PSIS with a history of growth hormone deficiency. The first case is a 21-year-old female presenting with generalized fatigability, dizziness and delayed puberty, while the second case is a 19-year-old female presenting with secondary amenorrhea. The hormonal profile of the first patient revealed panhypopituitarism; the second case had growth hormone deficiency subsequently had secondary hypogonadism with intact thyroid and adrenal functions. The diagnosis of PSIS was confirmed by magnetic resonance imaging (MRI), and both cases were treated with hormone supplements. Progress was also tracked through planned follow-up sessions. To the best of our knowledge, this is the first case series of such late diagnosis PSIS from Saudi Arabia.</p><p><strong>Conclusion: </strong>The key message of this paper is that rare etiologies such as PSIS should be kept in mind, especially for young patients presenting with clinical evidence of pituitary hormonal deficiencies, and MRI should be considered to confirm diagnosis. The early diagnosis, hormonal replacement, and long-term follow-up are crucial to reducing negative impacts of pituitary hormonal deficiencies.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"345-354"},"PeriodicalIF":0.7,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11932035/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700437","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}
Fareed Ahmad Nazari, GhulamYahia Baset, Saied Karim Zarif, Muhammad Anwar Rahimdeen, Ahmad Amiri, Farukh Seyar
{"title":"Fecal Fistula Following Appendectomy as an Unusual Late Complication: A Rare Case Report.","authors":"Fareed Ahmad Nazari, GhulamYahia Baset, Saied Karim Zarif, Muhammad Anwar Rahimdeen, Ahmad Amiri, Farukh Seyar","doi":"10.2147/IMCRJ.S518439","DOIUrl":"10.2147/IMCRJ.S518439","url":null,"abstract":"<p><p>Post-appendectomy fecal fistula is a rare complication, but it is associated with significant morbidity. Etiological factors of post-appendectomy fecal fistula formation include severe peri-appendicitis involving the base of the appendix as well as adjoining caecal wall; neoplasia of the appendix and caecum; infective bowel conditions especially intestinal tuberculosis, actinomycosis and Crohn's disease; distal obstruction and gossypiboma. Diagnosis of post-appendectomy fecal fistula is usually made on CT-scan but Fistulography is also useful in the late stages of the disease. Treatment of post-appendectomy fecal fistula includes non-surgical and surgical management options. We present a 20-year-old male patient who presented to the hospital with a longstanding surgical site infection in the scar of a previous appendectomy incision.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"381-386"},"PeriodicalIF":0.7,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11932128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700415","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":"Five Years Follow-Up Outcomes of Femtosecond Laser-Assisted Cataract Surgery on Patients with Preexisting Corneal Astigmatism.","authors":"Thi Minh Khanh Pham, Xuan Hiep Nguyen, Thi Thu Thuy Pham, Tran Thanh Hoang","doi":"10.2147/IMCRJ.S506198","DOIUrl":"10.2147/IMCRJ.S506198","url":null,"abstract":"<p><strong>Purpose: </strong>Evaluating the long-term clinical efficacy and safety of femtosecond laser-assisted cataract surgery for correcting corneal astigmatism.</p><p><strong>Patients and methods: </strong>In this cohort study on follow-up records from preoperative, postoperative 1 week, 1 month, 3 months, 1 year, 3 years, and 5 years, thirty-four eyes with cataract and corneal astigmatism (>0.50D) were treated with corneal arcuate incisions and femtosecond-laser assisted cataract surgery in Vietnam National Eye Hospital, from January 2017 to February 2023.</p><p><strong>Results: </strong>The rate of postoperative refraction spherical equivalent was within ± 0.50D and ± 1.0D at 3 months (in 91.2% and 100% of the eyes, respectively). The average of preoperative corneal astigmatism was 1.63 ± 0.886D, decreased to 0.53 ± 0.628D in the third month after surgery and stable to 5 years. Surgically induced astigmatism was 1.09 ± 0.413D, which indicated under-correction. However, no complications were recorded.</p><p><strong>Conclusion: </strong>The femtosecond laser-assisted cataract surgery is safe and long effective in correcting the corneal astigmatism in patients with preexisting corneal astigmatism.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"373-379"},"PeriodicalIF":0.7,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11932028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700433","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":"Urticaria-Like Hypersensitivity Reaction Following Botulinum Toxin Injection: A Case Report of Possible Interaction with β-Lactam Antibiotics.","authors":"Weifeng Feng, Heqi Liu","doi":"10.2147/IMCRJ.S510203","DOIUrl":"10.2147/IMCRJ.S510203","url":null,"abstract":"<p><p>Botulinum toxin serotype A (BTX-A) is commonly used for treating facial dynamic wrinkles. The clinical safety of BTX-A has been proven, and it has few side effects; despite this, BTX-A has the potential to cause an allergic reaction. This case raises concerns about a possible interaction between botulinum toxin serotype A (CBTX-A) and β-lactam antibiotics, contributing to the limited literature on hypersensitivity reactions. Herein, we described the case of a 35-year-old woman who was injected with Chinese botulinum toxin serotype A (CBTX-A) to treat crow's feet. The treatment was performed after the patient had taken cefprozil for an upper respiratory tract infection. Subsequently, the patient developed urticaria-like symptoms that completely resolved within 24 hours after administration of antihistamines. This case emphasises the need for careful medication history review before botulinum toxin administration, especially in patients receiving β-lactam antibiotics, as hypersensitivity reactions may occur.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"367-371"},"PeriodicalIF":0.7,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11932131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700476","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}
Mustafa Mumin Adem, Abdirahman Omer Ali, Muhiadin Ismail Abdi, Jama Osman Hirsi, Ahmed Abdi Aw Egge, Mohamoud Hashi Abdi, Mohamed Abubakar Muhumed, Hassan Elmi Moumin, Hodo Abdi Abdilahi
{"title":"A Rare Case of Postpartum Cerebral Venous Thrombosis and Hemorrhagic Infarction From Somalia.","authors":"Mustafa Mumin Adem, Abdirahman Omer Ali, Muhiadin Ismail Abdi, Jama Osman Hirsi, Ahmed Abdi Aw Egge, Mohamoud Hashi Abdi, Mohamed Abubakar Muhumed, Hassan Elmi Moumin, Hodo Abdi Abdilahi","doi":"10.2147/IMCRJ.S516258","DOIUrl":"10.2147/IMCRJ.S516258","url":null,"abstract":"<p><strong>Introduction: </strong>Cerebral venous thrombosis (CVT) is a rare but serious complication that can occur during pregnancy and the postpartum period. This case report discusses a unique instance of postpartum CVT complicated by hemorrhagic infarction in a patient from Somalia.</p><p><strong>Case presentation: </strong>We report the case of a 35-year-old woman, gravida 9, para 8, who presented on the 13th postpartum day with right-sided weakness, seizures, and severe headache. Initially misdiagnosed as impending eclampsia due to the absence of hypertension and proteinuria, she underwent CT and MRI scans, revealing a significant superior sagittal sinus thrombosis with hemorrhagic infarction. The patient was treated in the ICU with increased intracranial pressure management, seizure prophylaxis, and anticoagulation therapy, resulting in substantial clinical improvement.</p><p><strong>Discussion: </strong>This case emphasizes the necessity of maintaining a high index of suspicion for CVT in postpartum women displaying neurological symptoms. Misdiagnosis can impede timely intervention, highlighting the need for access to advanced imaging and a multidisciplinary approach. Increasing awareness and training for healthcare providers are essential for timely diagnosis.</p><p><strong>Conclusion: </strong>The management of this case illustrates the importance of early recognition of CVT in the postpartum population. Enhancing diagnostic resources and treatment strategies, particularly in resource-limited settings, can significantly improve maternal health outcomes and reduce morbidity and mortality.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"355-365"},"PeriodicalIF":0.7,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11930266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692105","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}
Zahraa Ali Alwayel, Mohammed Ali Alkhars, Jumana Ali Alibrahim, Rawan Adel Alawadh, Alya Saleh AlKhars, Eman Hussain Alkhalaf
{"title":"Atypical Site of BCC Reported in a Saudi Female: A Case Report.","authors":"Zahraa Ali Alwayel, Mohammed Ali Alkhars, Jumana Ali Alibrahim, Rawan Adel Alawadh, Alya Saleh AlKhars, Eman Hussain Alkhalaf","doi":"10.2147/IMCRJ.S504537","DOIUrl":"10.2147/IMCRJ.S504537","url":null,"abstract":"<p><p>BCC is the most prevalent form of skin cancer; thus, it is important to recognize that it poses a significant global health challenge. Various multifactorial risk factors can contribute to the development of BCC such as having fair skin, aging, chronic sun exposure, and tanning beds. Typically, exposed body parts are the frequent location identified for BCC. Here, we report a case of a 53-year-old Saudi female, who presented with an incidental pigmented lesion over her left axillary fold with features of suspicious of BCC.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"333-338"},"PeriodicalIF":0.7,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11927489/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692120","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":"Uterine Manifestation of Sarcoidosis Diagnosed in the Setting of Fever of Unknown Origin.","authors":"Rie Utsunomiya-Nishimizu, Yuki Tsutsui, Noboru Horinouchi, Katsuhiko Yoshimura, Masakazu Nishida, Seiji Shiota, Eishi Miyazaki","doi":"10.2147/IMCRJ.S501279","DOIUrl":"10.2147/IMCRJ.S501279","url":null,"abstract":"<p><p>We report a rare case of uterine sarcoidosis. A 28-year-old woman presented with periodic fever over 38°C for the past 5 months. One year prior, splenomegaly was noted. The serum angiotensin-converting enzyme levels were elevated; however, the lungs, lymph nodes, eyes, and skin appeared normal. Fluorine-18-fluorodeoxyglucose positron emission tomography revealed accumulations in the uterine body and spleen. Magnetic resonance imaging showed multiple irregular uterine masses. Intraoperative frozen section assessment of the uterine masses suggested sarcoma; therefore, total hysterectomy was performed. However, formalin-fixed specimens of the resected organs revealed noncaseating epithelioid cell granulomas in the myometrium and fallopian tubes, indicating the final diagnosis of uterine sarcoidosis. Clinicians should recognize that sarcoidosis can affect the uterus.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"339-344"},"PeriodicalIF":0.7,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11927490/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692123","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}
Kevin Dominique Tjandraprawira, Dhanny Primantara Johari Santoso, Hartanto Bayuaji, Annisa Dewi Nugrahani, Dadan Susandi
{"title":"Diagnosis and Management Challenges of Spontaneous Quadruplet Pregnancy in a Resource-Limited Setting: A Case Report.","authors":"Kevin Dominique Tjandraprawira, Dhanny Primantara Johari Santoso, Hartanto Bayuaji, Annisa Dewi Nugrahani, Dadan Susandi","doi":"10.2147/IMCRJ.S491180","DOIUrl":"https://doi.org/10.2147/IMCRJ.S491180","url":null,"abstract":"<p><strong>Introduction: </strong>Higher-order pregnancy is considered as a high-risk pregnancy, followed by various maternal and foetal complications. The diagnosis and management of higher order pregnancy have abundant and complex challenges, especially in rural areas where antenatal care (ANC) is often inadequate. Late booking and low awareness of complications necessitates priority management and referral to a tertiary center for fetal medicine expertise. This is our experience managing a spontaneously conceived quadruplet pregnancy delivered prematurely in a low-resource setting.</p><p><strong>Case presentations: </strong>A 27-years-old primigravida of 7.5 months of gestation presented with preterm labor. Her membrane was intact, and she noted active fetal movements. Her history was notable due to her pregnancy being spontaneously conceived and that her antenatal consultations had mistakenly identified her pregnancy as a triplet pregnancy. At presentation, her fundal height was 49 cm, and her cervix was 5-6 cm dilated. As she was in active labor, she underwent an emergency caesarean section. Four neonates were delivered but only two were transferred to the neonatal intensive care unit due to infrastructure limitations. She made an uneventful recovery and was discharged 2 days later. However, only two of four neonates eventually survived. This quadruplet pregnancy signified the pertinent complications of multifetal pregnancy: misidentification of chorionicity; preterm delivery; and early neonatal deaths due to prematurity.</p><p><strong>Conclusion: </strong>Higher order pregnancies present their own challenges for diagnosis and treatment. Preterm delivery and its associated neonatal complications are well-known complications, and a multidisciplinary management is crucial.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"325-332"},"PeriodicalIF":0.7,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11910030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648207","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":"Case Report: A Giant Gallstone Was Found at End of the Duodenum.","authors":"Lintao Chen, Yu Zhang, Zhaoqing Du","doi":"10.2147/IMCRJ.S509006","DOIUrl":"https://doi.org/10.2147/IMCRJ.S509006","url":null,"abstract":"<p><p>Gallstone ileus (GI) occurs due to the migration of gallstones into the intestinal tract through a bilioenteric fistula. The surgical approach may vary based on the size and location of the fistula causing obstruction. We present a case of recurrent calculous cholecystitis with acute abdominal pain and vomiting, which was attributed to an uncommon giant gallstone located at the distal end of the duodenum. Our management involved performing a one-stage enterolithotomy, cholecystectomy, and fistula repair. The patient had an uneventful postoperative recovery without any complications such as duodenal leakage.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"321-323"},"PeriodicalIF":0.7,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11910155/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647996","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}