International Medical Case Reports Journal最新文献

{"title":"Homozygous α-Spectrin (SPTA1) Variant Causing Persistent Hereditary Pyropoikilocytosis in a Newborn: A Case Report and Literature Review.","authors":"Jamal Sayed, Alanoud Sulaiman Alabdulhadi, Waheed Abdullah Alzahrani, Faisal Joueidi, Ghaida Ali Alzahrani, Ahmed Gamal Sayed, Gamal T Ebid","doi":"10.2147/IMCRJ.S483359","DOIUrl":"https://doi.org/10.2147/IMCRJ.S483359","url":null,"abstract":"<p><p>Hereditary pyropoikilocytosis is an inherited, rare form of severe hemolytic anemia that is associated with a disordered erythrocyte membrane. Such a disordered membrane is due to the quantitative and qualitative α-spectrin defects that associate with homozygous or doubly heterozygous mutations in the SPTA1 gene. Characterized by marked poikilocytosis, anisocytosis, and thermal sensitivity of erythrocytes, often leading to severe hemolytic anemia and neonatal jaundice. We report the case of a full-term newborn admitted in the first day of life to the neonatal intensive care unit with significant jaundice and anemia. Peripheral blood smear revealed severe anemia with pronounced anisopoikilocytosis and moderate elliptocytosis, suggestive of a hereditary RBC membrane disorder. The whole exome sequencing (WES) did identify a SPTA1 gene homozygous likely pathogenic missense variant, p. (Leu260Pro) confirming the diagnosis of hereditary pyropoikilocytosis. The patient received intensive phototherapy and a red blood cell transfusion during hospitalization. Over an 18-month follow-up period, the infant remained clinically stable with no further transfusion requirements. However, the features consistent with HPP tended to be persistent during the follow‑up, highlighting the chronic nature of the disorder in this case. Furthermore, it underscores the importance of considering rare hereditary causes of hemolytic anemia in neonates presenting with early-onset jaundice and anemia. It highlights the diagnostic value of genetic testing in confirming SPTA1-related disorders.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1303-1309"},"PeriodicalIF":0.7,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12520006/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145300674","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":"Eltrombopag for Refractory Immune Thrombocytopenia in a Patient with Chronic Lymphocytic Leukemia: A Case Report.","authors":"Mortadah Alsalman","doi":"10.2147/IMCRJ.S555045","DOIUrl":"10.2147/IMCRJ.S555045","url":null,"abstract":"<p><strong>Introduction: </strong>We report a case of chronic lymphocytic leukemia associated immune thrombocytopenia (CLL-associated ITP) with suboptimal response to steroid responding to second line agent.</p><p><strong>Case presentation: </strong>A 68-year-old female patient known to have diabetes mellitus and chronic lymphocytic leukemia (CLL) presented with spontaneous bruising on her body and around her right eye. Initial laboratory investigations reveal hemoglobin level of 10.6 g/dL, platelet count of 11 × 10⁹/L, white blood cell count of 50.0 × 10⁹/L with negative direct and indirect Coombs tests were negative. The patient has a suboptimal response and rapid platelet declines once prednisone is tapered off. Consequently, Eltrombopag was introduced at a daily dosage of 50 mg, resulting in a rapid and sustained response over two years, reaching a platelet count of 282 × 10⁹/L without requiring rescue treatment. Notably, steroids were tapered within the first three weeks of Eltrombopag administration, and aspirin was resumed once the platelet count reached 50 × 10⁹/L.</p><p><strong>Conclusion: </strong>Eltrombopag represents an effective and safe treatment alternative for patients with CLL-associated ITP, particularly those diagnosed with diabetes mellitus. However, the potential risks of iron deficiency and Eltrombopag's food interactions prior to initiating therapy, during dose escalations, or when transitioning to alternative treatments are important considerations. Future studies with large number sample size along with identification of cytogenetic and molecular abnormalities are required to identify patient populations that may respond favorably to Eltrombopag without necessitating rescue therapies, chemotherapy, immunotherapy or CLL directed therapy.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1291-1294"},"PeriodicalIF":0.7,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12517303/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145292243","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":"Familial Cluster of Foodborne Botulism Associated with Homemade Dairy Products: A Case Series.","authors":"Khadijeh Saravani, Amirhosein Kamrava, Javad Poursamimi","doi":"10.2147/IMCRJ.S553444","DOIUrl":"10.2147/IMCRJ.S553444","url":null,"abstract":"<p><strong>Background: </strong>Foodborne botulism is a life-threatening illness caused by neurotoxins produced by Clostridium botulinum. Although dairy-related cases are rare, they remain a public health concern, especially in regions where traditional food preparation methods are common.</p><p><strong>Case presentation: </strong>This case series describes botulism in three family members-including a pregnant woman-following the consumption of homemade dairy products. All presented with varying degrees of neurological and respiratory symptoms. Two required intubation and intensive care. Laboratory findings confirmed neurotoxin type A in stool and gastric samples. Early administration of a horse-derived trivalent botulinum antitoxin and supportive care resulted in recovery.</p><p><strong>Conclusion: </strong>Prompt recognition and treatment are essential for favorable outcomes. This case series underscores the exceptionally rare occurrence of foodborne botulism linked to homemade dairy products, highlighting the clinical and public health significance of early diagnosis and preventive measures.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1295-1301"},"PeriodicalIF":0.7,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12517297/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145292251","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":"Corneal Adverse Events Temporally Associated with Anti-TNF-α Therapy: Severe Fibrovascular Pannus and a Non-Pannus Epitheliopathy in Two Cases.","authors":"Natsuko Mori, Akira Kobayashi, Hideaki Yokogawa, Tomomi Higashide","doi":"10.2147/IMCRJ.S548235","DOIUrl":"10.2147/IMCRJ.S548235","url":null,"abstract":"<p><strong>Purpose: </strong>To describe two corneal adverse events temporally associated with anti-tumor necrosis factor-α (TNF-α) therapy-one with severe fibrovascular pannus and another with epithelial keratopathy without pannus.</p><p><strong>Methods: </strong>Two patients on anti-TNF-α agents underwent comprehensive ocular examinations. Management included modification or discontinuation of biologics as clinically indicated and intensified topical therapy.</p><p><strong>Results: </strong>Case 1 (pustular psoriasis on adalimumab) developed bilateral fibrovascular pannus with stromal changes. Ocular findings did not improve immediately after adalimumab discontinuation but gradually improved following macrolide, topical corticosteroid, and immunomodulatory therapy. Case 2 (Crohn's disease on adalimumab then golimumab) presented with superior corneal haze and diffuse superficial punctate keratopathy without pannus and resolved with topical therapy alone.</p><p><strong>Conclusion: </strong>These cases raise the possibility that corneal adverse events-including severe pannus-may occur during anti-TNF-α therapy. Given the heterogeneity and potential confounders, causality cannot be established. Ophthalmic vigilance and further studies are warranted.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1285-1289"},"PeriodicalIF":0.7,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12517288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145292267","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":"An Atypical Presentation of Basal Cell Carcinoma: A Giant Verrucous Ulcer on the Upper Arm.","authors":"Jianzhong Zhang, Ying Guo, Chao Lv, Zhifeng Li, Guoying Miao, Litao Wang","doi":"10.2147/IMCRJ.S553586","DOIUrl":"10.2147/IMCRJ.S553586","url":null,"abstract":"<p><p>Giant basal cell carcinoma (GBCC) is a rare and clinically aggressive subtype of BCC. We report an unusual case of a 71-year-old male with a 30-year history of a slowly enlarging tumor on the extensor surface of his left upper arm. The lesion presented as a giant, irregular ulceration measuring 12×10 cm with coalescing verrucous borders. Histopathological examination confirmed the diagnosis, revealing characteristic nests of basaloid cells with peripheral palisading and stromal retraction artifact in the dermis. Immunohistochemical staining was positive for Ber-EP4, CK15, Ki-67, Bcl-2. The patient was diagnosed with GBCC with Ulcer. Staging workup with computed tomography (CT) of the left humerus and axillary lymph node ultrasonography showed no evidence of metastasis. The patient was successfully treated with slow Mohs micrographic surgery. Subsequent histopathological assessment of the excised specimen confirmed tumor-free margins. At 12-month follow-up, no local recurrence was observed. This case highlights the importance of recognizing GBCC in uncommon locations and demonstrates the efficacy of slow Mohs technique for achieving complete excision in large, complex tumors.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1279-1283"},"PeriodicalIF":0.7,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12506792/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258028","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":"Clinical Improvement in a Case of Alternating Hemiplegia of Childhood After Cerebral Lymphatic Drainage.","authors":"Sandro Mandolesi, Tarcisio Niglio, Michela Stagnaro, Elisa De Grandis","doi":"10.2147/IMCRJ.S532665","DOIUrl":"10.2147/IMCRJ.S532665","url":null,"abstract":"<p><p>Alternating hemiplegia of childhood (AHC) is a rare neurological disorder characterized by recurrent episodes of hemiplegia and dystonia, significantly affecting patients' quality of life. This exploratory study evaluated the effects of the Muscular Acoustic Modulator (MAM) on a single patient with AHC treated for one year. The treatment was associated with a notable reduction in the frequency and duration of hemiplegic and dystonic episodes, with partial and total hemiplegic episodes decreasing by 52% and 85%, respectively, and partial dystonic episodes decreasing by 81%. Additionally, improvements in behavioural symptoms such as anger and strength outbursts were observed. We hypothesize that MAM treatment could modulate cerebrospinal fluid dynamics and enhance glymphatic drainage, potentially offering a new therapeutic approach for AHC and other neurodegenerative diseases. However, the study's limitations, including the single-patient design, necessitate further research to confirm these preliminary results and elucidate the underlying mechanisms.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1267-1278"},"PeriodicalIF":0.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12493932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145232588","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":"Feasibility and Tolerability of Controllable Pulse Parameter Transcranial Magnetic Stimulation in Patients with Painful Diabetic Neuropathy: A Case Series Study.","authors":"Jiyeon Park, Stevie D Foglia, Chloe C Drapeau, Perry V Mayer, Harsha Shanthanna, Aimee J Nelson","doi":"10.2147/IMCRJ.S531201","DOIUrl":"10.2147/IMCRJ.S531201","url":null,"abstract":"<p><p>This case series highlights the feasibility and tolerability of using controllable pulse parameter Transcranial Magnetic Stimulation (cTMS) in individuals with painful diabetic neuropathy (pDN). cTMS delivers repetitive monophasic pulses, which allows for greater and longer lasting effects compared to traditional repetitive TMS (rTMS). All participants (N = 2) tolerated 10 sessions of cTMS over a two-week period (five days per week) with no discomfort from the stimulation. They reported no pain from the stimulation despite their heightened pain sensitivity as a result of pDN. The cTMS intervention improved their pain and quality of life as determined through questionnaires evaluating pain, depression, anxiety, and other related measures. Notably, cTMS has never been evaluated in diabetic neuropathy, and our data suggest that it is feasible and tolerable in this clinical population. It further proposes a potential therapeutic treatment option for individuals with pDN.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1261-1266"},"PeriodicalIF":0.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12484107/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212344","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":"Massive Gastrointestinal Hemorrhage in an Adult Caused by Meckel's Diverticulum: A Case Report.","authors":"Ludan Zheng, Liangliang Li, Yubin Huo, Hui Su","doi":"10.2147/IMCRJ.S541384","DOIUrl":"10.2147/IMCRJ.S541384","url":null,"abstract":"<p><p>Meckel's diverticulum is one of the most common congenital anomalies of the gastrointestinal tract in pediatric populations worldwide. Although Meckel's diverticulum itself is usually asymptomatic, patients often present with complications such as gastrointestinal bleeding, Meckel's diverticulitis, intestinal perforation, and other associated symptoms. Notably, Meckel's diverticulum is relatively uncommon in adults, with cases complicated by acute massive gastrointestinal bleeding being particularly rare. We report the case of a 41-year-old man presenting with hematochezia for one day. Upon admission, his hemoglobin level dropped significantly from 98 g/L to 62 g/L within 24 hours. Contrast-enhanced computed tomography strongly suggested contrast media extravasation, indicating active bleeding. Subsequent gastrointestinal endoscopy, including colonoscopy, failed to identify obvious pathological findings. Mesenteric angiography successfully localized the bleeding vessels, but multiple embolization attempts were unsuccessful. The initial imaging and endoscopic modalities may not pinpoint the source of bleeding in this rare condition. Ultimately, a combined laparoscopic and endoscopic approach was employed, which successfully identified and localized the bleeding site in the Meckel's diverticulum. Laparoscopic intestinal resection was then performed, and postoperative pathological examination confirmed Meckel's diverticulum with ectopic gastric tissue. Meckel's diverticulum-induced bleeding in adults is severe yet rare, with nonspecific diagnostic features that often complicate timely identification. In managing the case of massive gastrointestinal hemorrhage, we achieved a successful outcome through combined laparoscopic intestinal resection and endoscopic surgery, with timely diagnosis and targeted intervention leading to complete recovery. This case underscores the critical role of a multimodal diagnostic and therapeutic strategy, particularly the integration of laparoscopy and endoscopy, in overcoming the challenges of nonspecific presentations. It serves as a valuable reference for clinicians, emphasizing that persistent diagnostic uncertainty in severe lower gastrointestinal bleeding should prompt consideration of rare etiologies like Meckel's diverticulum, and that a combined surgical-endoscopic approach can be pivotal in achieving definitive diagnosis and curative treatment.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1253-1259"},"PeriodicalIF":0.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12482944/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206611","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":"Immune-Related Peripheral Keratopathy in Post-COVID-19 Syndrome.","authors":"Bingxu Chen, Xiyun Li, Lei Qu, Shuduan Wu","doi":"10.2147/IMCRJ.S539734","DOIUrl":"10.2147/IMCRJ.S539734","url":null,"abstract":"<p><strong>Background: </strong>Post-COVID-19 Syndrome, marked by systemic immune dysregulation, has been linked to various ocular manifestations, including conjunctivitis, anterior uveitis, and vitritis. Emerging evidence highlights the role of inflammatory mediators, cytokines, and abnormal immune cell activation in post-viral complications, which may contribute to corneal damage. This case report describes immune-related peripheral keratopathy in a patient with Post-COVID-19 Syndrome, emphasizing that it may influence the ocular surface immune microenvironment.</p><p><strong>Case presentation: </strong>We describe a woman in her 30s who has a history of mild dry eye disease. After her third COVID-19 infection, she experienced eye redness, dryness, and a foreign body sensation. Ophthalmic examination revealed a corneal ulcer at the limbal region in both eyes. Treatment with topical antibiotics, corticosteroids, anti-inflammatory agents, and lubricating eye drops, led to substantial improvement and complete healing within two months.</p><p><strong>Conclusion: </strong>Systemic immune dysregulation following COVID-19 infection may alter the ocular surface immune microenvironment, thereby predisposing patients to ocular surface complications.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1247-1251"},"PeriodicalIF":0.7,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12478226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145199311","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":"Multidisciplinary Management and Individualized Care in Pregnancy with Fanconi-Bickel Syndrome: A Case Report and Review of the Literature.","authors":"Kamal Abu Jabal, Karine Beiruti Wiegler, Inshirah Sgayer, Maya Frank Wolf, George Jeries, Younes Bathish","doi":"10.2147/IMCRJ.S531843","DOIUrl":"10.2147/IMCRJ.S531843","url":null,"abstract":"<p><p>Fanconi-Bickel syndrome (FBS) is a rare genetic disorder characterized by impaired glucose and galactose transport due to mutations in the SLC2A2 gene. It presents a broad phenotypic spectrum with initial nonspecific symptoms, often leading to missing or delayed diagnosis. The most common manifestations include failure to thrive, hepatomegaly, fasting hypoglycemia, postprandial hyperglycemia, significant glycosuria, proximal tubular nephropathy, osteoporosis and nutritional rickets. This study presents a rare case of pregnancy with FBS complicated with intrahepatic cholestasis and postprandial hyperglycemia, highlighting the challenges and complexities involved in managing such a high-risk pregnancy. A multidisciplinary team, including specialists in hepatology, nephrology, endocrinology, maternal-fetal medicine, and neonatology, collaborated to ensure optimal maternal and fetal outcomes. Through meticulous monitoring and individualized treatment strategies, pregnancy was successfully carried out at 37 weeks of gestation, culminating in favorable maternal and neonatal outcomes. All previously published cases of FBS were identified and compared to our case for a comprehensive analysis. This case highlights the critical role of specialized, multidisciplinary care in managing rare metabolic disorders during high-risk pregnancies and expands our current understanding of FBS treatment approaches and the management of specific manifestations. This underscores the need for a systematic approach to patient evaluation and management, ensuring timely identification of complications and tailored interventions to optimize maternal and fetal outcomes.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1237-1245"},"PeriodicalIF":0.7,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12467160/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145186015","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}