Rare M6-subtype antimitochondrial antibody (AMA-M6) has been described in patients treated with iproniazid, an antidepressant drug. Diagnosis can be made by identifying its highly characteristic indirect immunofluorescence pattern on rat organ substrates. In the existing literature, the presence of AMA-M6 has been associated with hepatitis cytolysis, with a favorable outcome following the discontinuation of treatment. This report presents two cases of AMA-M6-like pattern in patients who had never taken iproniazid. In the first case, the patient was receiving pembrolizumab treatment for lung adenocarcinoma. The presence of this pattern was identified 20 days after introducing immunotherapy, with a diagnosis of liver cytolysis made 10 days later, associated with the presence of nodular regenerative hyperplasia. Following the suspension of the injection, liver enzyme levels decreased and the pembrolizumab treatment was resumed with no recurrence of liver damage. In the second case, the same AMA-M6-like pattern was discovered fortuitously in a patient presenting with a complaint of dry mouth only, and no evidence of liver damage. In contrast to previous reports, our findings do not support the presence of MAO-B-specific autoantibodies in these patients, and the target antigen remains to be identified. These two cases demonstrate that AMA-M6-like pattern can develop in patients who have never been exposed to iproniazid. While liver damage was present in one case, the patient remained asymptomatic in the second case. Immunologists must thus watch for uncommon patterns in indirect immunofluorescence to ensure appropriate medical care and patient follow-up.
Given the high rate of cardiovascular comorbidities in anti-HMG-CoA reductase (HMGCR)-immune-mediated necrotizing myopathy (IMNM), a glucocorticosteroids (GC)-free treatment approach remains an appealing strategy. While intravenous immunoglobulins (IVIg) represents an effective therapy in most subgroups of idiopathic inflammatory myositis (IIM), there remains limited evidence supporting the use subcutaneous immunoglobulins (SCIg), a potentially safer, more convenient and cost-effective alternative. We present a case of a 68-year-old male of European descent with a 2-year history of progressive proximal bilateral lower extremity weakness. He had been treated for his dyslipidemia with atorvastatin for 2 years, then with rosuvastatin for 2 additional years until discontinued a year before our assessment. His other comorbidities included hypertension and diabetes mellitus type II. Physical examination demonstrated proximal weakness of his bilateral hip flexors and deltoids, and no rash. His creatine kinase (CK) was elevated at 1644 IU/L. Electromyography revealed a generalized myopathic disorder with proximal predominance and muscle biopsy of the right quadriceps showed typical findings of an IMNM. Serum HMG-CoA reductase antibody was positive. Due to accumulating evidence supporting the effectiveness of IVIg in anti-HMGCR-IMNM, even without concomitant GC or other immunosuppressive agent, we opted for a GC-free approach through shared-decision making in light of patient's preference regarding potential GC side effects with his comorbidities. As he lived a considerable distance from any center, where IVIg infusions could be offered, and given the patient was unable to drive himself due to his symptoms we opted for SCIg (0.5 g/kg/week). Within 1 month, his CK decreased and weakness resolved. SCIg monotherapy was tapered over 3 years and this patient remains in remission 7 years after SCIg initiation. The patient did not have any adverse effects related to SCIg use. To our knowledge, this is the first case report describing a successful corticosteroid-free management of anti-HMGCR immune-mediated necrotizing myopathy using SCIg as monotherapy. This case highlights the potential for steroids-free induction and maintenance strategies in IMNM. Larger studies are required to confirm the effectiveness and safety of SCIg in IMNM and other subtypes of IIM, and to provide guidelines for dosing recommendations.
Japanese encephalitis (JE) is a mosquito-borne flavivirus infection endemic to much of Asia and the Western Pacific. Although most infections are asymptomatic, less than 1% progress to clinical disease, typically presenting as acute encephalitis. The case fatality rate ranges from 20 to 30%, and up to half of survivors develop long-term neurological or psychiatric sequelae. While uncommon among travelers from non-endemic regions, risk increases with prolonged rural exposure or lack of vaccination. Immunocompromised individuals, including those with hematologic malignancies, may experience severe and rapidly progressive diseases. Awareness of this rare but life-threatening infection is essential when evaluating returning travelers with acute encephalopathy. A 70-year-old Lao male living in the California Central Valley with a history of multiple myeloma, hypertension, and congestive heart failure presented with progressive confusion and weakness after travel to rural Laos. His trip exceeded the recommended duration, and his Japanese encephalitis virus (JEV) vaccination status was unknown. On admission, he was febrile and encephalopathic with new-onset rigidity. Computed tomography showed chronic calcifications consistent with prior neurocysticercosis, while magnetic resonance imaging revealed bilateral frontal and left insular cortical hyperintensities without thalamic involvement. Cerebrospinal fluid analysis conducted 9 days after his cognitive decline showed elevated protein without pleocytosis, and infectious and autoimmune panels were negative. Despite empiric antibiotics and supportive care, his condition deteriorated to coma, requiring intubation. Serologic testing later confirmed recent JEV infection with positive Immunoglobulin G (IgG) and low-titer Immunoglobulin M (IgM). After multidisciplinary discussions, comfort care was initiated, and he died in inpatient hospice. This case illustrates the diagnostic challenge of acute encephalopathy in immunocompromised travelers. Myeloma-related immune dysfunction, as suggested by his lack of pleocytosis, likely contributed to impaired viral clearance, leading to rapid progression. The absence of typical thalamic lesions and the presence of frontal and insular involvement represent an uncommon neuroimaging pattern in JE. Pre-existing neurocysticercosis may have further worsened neurologic outcomes, as prior studies suggest JEV co-infection can lead to worse prognosis. Our case highlights the importance of having a broad differential in an undifferentiated patient and the value of investigating a patient's history holistically. Imported JE should be considered in travelers returning from endemic regions, particularly those who are immunocompromised. A detailed travel history, broad infectious workup, and recognition of atypical imaging findings are key to diagnosis. Vaccination and mosquito precautions remain the most effective preventive measures against this often-fatal disease.
Traumatic brain injury is a major global health concern, with penetrating brain trauma representing an uncommon but highly lethal subset, especially in conflict-affected regions. Outcomes in penetrating brain trauma are strongly influenced by admission Glasgow Coma Scale (GCS), extent of structural injury, projectile characteristics, and imaging findings. Early expert assessment, rapid neuroimaging, and timely surgical intervention are critical for improving survival in selected patients although long‑term recovery often requires multidisciplinary rehabilitation. We report a rare case of penetrating brain trauma in a 14‑year‑old male who achieved complete neurological recovery following prompt and appropriate management. A 14‑year‑old Syrian male presented with a penetrating gunshot injury to the left frontal region, arriving with a GCS of 10, left pupillary non-reactivity, periorbital ecchymosis, cerebrospinal fluid leak, and a depressed comminuted frontal fracture. Computed tomography imaging revealed multiple bone fragments penetrating the left frontal lobe, an anterior skull base fracture, pneumocephalus, contusions, and a bullet lodged in the right maxillary sinus. He underwent urgent left frontal craniectomy with removal of bone fragments, dural repair, and abdominal preservation of the bone flap. Postoperatively, his neurological status improved rapidly to a GCS of 15 within 12 h, with spontaneous resolution of cerebrospinal fluid leakage. The patient remained neurologically intact and was discharged with plans for subsequent neuropsychological follow-up and cranioplasty (refer to Graphical Abstract). This case highlights the importance of rapid assessment and timely intervention in penetrating brain trauma despite its high morbidity and mortality. The patient's full recovery from an initial GCS of 10 underscores the value of appropriate rehabilitation. Accurate projectile identification and avoidance of management delays are essential, and multidisciplinary collaboration may benefit selected cases.
Clear-cell squamous cell carcinoma (ccSCC) is an exceptionally rare variant of cutaneous SCC characterized by tumor cells with abundant clear cytoplasm. Its pathogenesis, behavior, and clinical significance remain poorly defined, and it is not formally classified in head-and-neck sites. Reported risk factors include chronic ultraviolet exposure, prior radiation, arsenic ingestion, immunosuppression, and long-standing ulceration. In this article, we report a case of an 80-year-old male who suffered from a gradually progressive ccSCC on his frontal scalp, which was neglected due to fear-driven medical avoidance. An 80-year-old Syrian farmer with extensive lifetime sun exposure presented with a painful, ulcerated, and fungating 7 × 4 cm frontal scalp mass that had progressively enlarged over 2 years. The patient repeatedly declined diagnostic and surgical procedures due to fear of malignancy, influenced by a prior history of lower-lip SCC. Psychological consultation eventually enabled acceptance of treatment. Following appropriate imaging, wide local excision with periosteal dissection and outer-table bone burring was performed, followed by split-thickness skin grafting. Histopathology confirmed Type II non-keratinizing clear-cell SCC with ≥ 80% clear-cell differentiation. A concurrent right-hand lesion was diagnosed as actinic keratosis. At 6-month follow-up, the surgical site showed satisfactory healing with no evidence of recurrence. This case demonstrates how psychological factors can significantly shape clinical decisions. It also highlights the need for further research to better define ccSCC as a distinct subtype with specific diagnostic and surveillance considerations. Given its rarity and potential for rapid growth, pathologists should remain alert to this variant, particularly in elderly individuals with extensive sun exposure.
Background/Objectives: We describe a case series of two patients with non-specific chronic low back pain (CLBP) and measurable decreased quality of life, who showed improvements after a specific multi-modal conservative spine and postural therapy regimen. CLBP is the leading cause of years lived with disability and disability-adjusted life years. This case series adds observational data to the medical literature on conservative treatment of CLBP and potentially improves diagnostic and treatment understanding of how conservative therapies can benefit patients suffering with CLBP. Methods: Two patients (Patient A: 58-year-old female; Patient B: 43-year-old male) presented with severe CLBP who did not find relief with prior traditional chiropractic manipulation. The patients sought treatment at a spine rehabilitation facility closest to their remote locations in Wyoming, USA. The conservative rehabilitation treatment program consisted of multi-modal therapies to strengthen postural muscles, postural spinal manipulation, and specific Mirror Image® traction. After 36 treatments over 12 weeks in office and home rehabilitation exercises, baseline tests and outcome measures were repeated. Results: Patient-reported objective outcomes, disability indices, and radiographic analysis demonstrated changes at the conclusion of treatment that were maintained at long-term follow-up re-examination. Lumbar lordosis initially changed from -21.8° L1-L5 lordosis to post-treatment -33.6° for patient A and from -22.6° to -42.4° for patient B. Long-term follow-up demonstrated continued resolution of initial symptoms and maintained spine alignment. Conclusions: In these two patients, the described multimodal conservative program was associated with sustained improvements in symptoms, function, and radiographic parameters. This case series adds to prior biomedical literature regarding potential conservative interventions for treating CLBP and abnormal posture. Larger randomized controlled studies are required to evaluate generalizability and relative effectiveness.
Acquired von Willebrand syndrome is a rare and often underdiagnosed entity, secondary to different pathologies, often of autoimmune or paraneoplastic etiology. Here, we report the first case of acquired von Willebrand syndrome secondary to rectal adenocarcinoma in a 62-year-old white patient with a negative history of a hemorrhagic diathesis. The patient received chemo-radiotherapy with tumor mass decrease and subsequent surgical removal. A pre-surgery workup identified isolated prolonged aPTT that led to coagulation factor analysis. Following prophylactic von Willebrand factor substitution, the surgery was performed without hemorrhagic complications. After treatment of the oncological disease, we observed spontaneous resolution of von Willebrand syndrome. It is important to recognize acquired von Willebrand syndrome because it can put the patient at a high risk of bleeding complications. Our case reports, for the first time, the presence of this syndrome secondary related to rectal adenocarcinoma. We also reviewed a few cases of acquired von Willebrand syndrome secondary to underlying solid tumors described in the literature.
Holoprosencephaly (HPE) is a rare congenital condition encompassing incomplete midline cleavage of the prosencephalon and associated craniofacial abnormalities. We report a rare case of a 34-year-old Memon woman, gravida 3 para 2, with no known comorbidities or exposure to teratogens, who presented for her 12-week scan which revealed a single alive fetus having an absent falx cerebri with fused thalami, a single large posterior ventricle, and facial anomalies suggestive of alobar HPE. A follow-up ultrasound showed abnormally fused portions of the brain and a high amniotic fluid index (AFI), indicating polyhydramnios. The fetus had intrauterine death at 7 months of gestation. This case highlights the importance of early prenatal diagnosis of alobar HPE, the most severe form, using transabdominal ultrasonography (USG) and transvaginal USG. Prompt prenatal imaging is crucial for early diagnosis of alobar HPE, enhancing antenatal care, and facilitating improved family planning strategies to alleviate potential psychological distress due to its poor prognosis. Our documentation of such a rare condition is essential to help create a comprehensive database of similar cases.
Paraganglioma (PGL) is a rare non-epithelial neuroendocrine neoplasm that can occur in multiple locations within the body. Most PGLs grow slowly and are benign, but some can metastasize to distant sites. Reports of brain metastatic PGL are relatively rare, particularly those with comprehensive case histories. A 52-year-old Asian female patient presented with a headache that had persisted for over a month. In 2018, the patient underwent surgical resection of a hepatic mass, with postoperative pathology confirming the diagnosis of primary hepatic PGL. In 2021, she received neurosurgical treatment, and histopathological and molecular analysis of the excised brain tissue revealed mutations in the CD274, KMT2B, and SDHB genes within the tumor cells. The final integrated pathological assessment confirmed a diagnosis of brain metastatic PGL, classified as a pseudohypoxia-driven subtype. Following temozolomide chemotherapy, no evidence of brain recurrence was observed as of June 2024. However, the patient developed multiple enlarged lymph nodes, with suspicious lesions detected in the thoracic, abdominal, pyramidal, and rib regions. Brain metastatic PGL is relatively rare and presents significant challenges in clinical practice, requiring careful consideration in diagnosis and treatment. Here, we present a case of PGL originating in the liver and metastasizing to the brain, reporting its clinical, radiological, histopathological, and molecular pathological features and the treatment process. A review of the relevant literature is also included to raise clinical awareness of this condition and provide new insights for diagnosis and treatment.
Lacosamide is registered for the treatment of (partial-onset) seizures in adults and children > 2 years of age, with a recommended maximum dose of 12 mg kg-1 in two doses. It is generally well tolerated. The use of lacosamide in neonates is off-label. We present the first case of a neonatal patient with refractory epilepsy who was started on lacosamide with monitoring of serial serum levels. We present a case of a prematurely (33 weeks) born Dutch, male neonate with refractory seizures despite multiple anti-epileptic drugs due to a de novo SCN2A mutation. Lacosamide was added, and serial serum trough levels were measured to optimize the dose. Based on the available literature, the dose needed to achieve a therapeutic serum trough level in our patient was much higher than expected, with a dose of 22 mg kg-1 in 4 doses. No side effects were observed. In specific cases in the neonatal population, lacosamide is safe and well tolerated and should be considered as a treatment option under strict surveillance of serum trough levels and cardiac monitoring. Higher doses might be needed to achieve a therapeutic serum trough level. Further research is needed to generalize these results and develop adjusted dose guidelines in the neonatal population.
Gain-of-function (GOF) mutations in the STAT1 gene result in heightened interferon signaling and impaired IL-17 immunity. While chronic mucocutaneous candidiasis (CMC) remains the hallmark feature, affected individuals often display a broader phenotype including viral infections, mycobacterial susceptibility, and autoimmune diseases. We describe a 4-year-old girl who initially presented with abdominal pain and was diagnosed with acute appendicitis. During surgery, marked mesenteric lymphadenopathy was discovered, and histopathology revealed acid-fast bacilli. Mycobacterium tuberculosis was confirmed by gastric fluid PCR, prompting initiation of anti-tuberculosis therapy. Her past medical history included hospitalization for herpes zoster and recurrent episodes of oral candidiasis during febrile illnesses. Immunologic evaluation showed normal immunoglobulin levels, vaccine responses, oxidative burst, and lymphocyte proliferation. However, low NK cells, reduced recent thymic emigrants, and decreased class-switched memory B cells were noted. Genetic testing revealed a previously unreported heterozygous STAT1 variant (p.Thr387Arg), classified as likely pathogenic according to ACMG criteria with a CADD score of 23.4. Parental genetic testing was negative, suggesting a de novo mutation. Although STAT1 phosphorylation could not be assessed, the proportion of IL-17-producing CD4⁺ T cells was markedly reduced, supporting impaired Th17 immunity. Based on clinical, immunologic, and genetic findings, a clinical and immunological phenotype consistent with STAT1 GOF was established. One year later, the patient developed arthritis and was diagnosed with systemic lupus erythematosus (SLE) based on autoantibody positivity and low complement levels. During follow-up, she also developed hemophagocytic lymphohistiocytosis (HLH), further reflecting severe immune dysregulation. Ruxolitinib was initiated as bridging therapy, resulting in partial clinical improvement, and hematopoietic stem cell transplantation (HSCT) was planned as definitive therapy. This report describes a novel STAT1 variant consistent with a gain-of-function phenotype associated with disseminated tuberculosis and early-onset SLE, expanding the clinical and molecular spectrum of this disorder. In children presenting with overlapping infectious and autoimmune features, underlying inborn errors of immunity should be considered.
Lymphatic malformations are rare benign congenital anomalies of the lymphatic system, most commonly affecting the head and neck. Gastrointestinal involvement is uncommon, and lymphatic malformations of the small intestine are particularly rare. Microcystic lymphatic malformations infiltrating the bowel wall may present with nonspecific clinical and radiological features, making preoperative diagnosis challenging. Reporting such cases is important to raise awareness of this rare entity as a potential cause of acute abdominal pain in children. A 5-year-old Vietnamese boy presented with acute onset abdominal pain, vomiting, and fever of 1-day duration. Physical examination revealed mild lower abdominal tenderness without a palpable mass. Abdominal ultrasonography demonstrated a mixed echogenic cystic lesion, while contrast-enhanced computed tomography revealed a segment of small intestine with irregular wall thickening, scattered calcifications, and tortuous intramural vessels. Differential diagnoses included vascular malformation, inflammatory bowel disease, and intestinal infection. Due to the acute presentation and inconclusive imaging findings, exploratory laparotomy was performed. Intraoperatively, a markedly thickened and hypervascularized segment of small bowel with dark purple discoloration was identified and resected, followed by primary end-to-end anastomosis. Histopathological examination revealed numerous small lymphatic channels infiltrating all layers of the intestinal wall with focal intralesional hemorrhage, confirming the diagnosis of microcystic lymphatic malformation. The postoperative course was uneventful, and the patient recovered well without complications. Microcystic lymphatic malformation of the small intestine is a rare but important differential diagnosis in children presenting with acute abdominal pain and localized bowel wall thickening. Because clinical and imaging findings are often nonspecific, definitive diagnosis usually relies on histopathological examination. Complete surgical excision provides both diagnostic confirmation and curative treatment, with excellent short-term outcomes.
Hemoptysis is a common clinical symptom, which can be caused by a wide spectrum of local, systemic, benign and malignant pathologies. Hemoptysis in conjunction with multiple pulmonary nodules raises suspicion for granulomatous diseases (such as granulomatosis with polyangiitis) or pulmonary metastases from a distant malignancy. Here, we report an unusual case of a patient who presented with subjective fever, hemoptysis and scattered pulmonary nodules, and was subsequently diagnosed with pulmonary angiosarcoma (probable primary pulmonary origin). A 67-year-old North American White gentleman of Greek ancestry initially presented with fever, cough, and dyspnea, and was found to have reticulonodular pulmonary infiltrates. Over the next 5 months, he developed persistent constitutional symptoms and new hemoptysis. During this interval, he underwent serial outpatient evaluations and was treated empirically for presumed pneumonia and heart failure, followed by unrevealing infectious, interstitial lung disease, and rheumatologic workup. At 6 months, CT demonstrated multiple bilateral pulmonary nodules and masses, and bronchoscopy with transbronchial needle biopsy showed only hemosiderin-laden macrophages, consistent with chronic alveolar hemorrhage. One month later, during a third hospitalization for worsening hemoptysis and hypoxemia, repeat imaging showed progression of innumerable pulmonary nodules and new liver lesions. Ultrasound-guided percutaneous liver biopsy was nondiagnostic, revealing fibrosis, bile ductular proliferation, and granulomatous inflammation without malignancy. During the same hospitalization, thoracoscopic wedge biopsy of the lung was performed. Final surgical pathology, available 1 week later, demonstrated CD34 and factor-VIII-positive malignant cells, establishing the diagnosis of pulmonary angiosarcoma (probable primary pulmonary origin). Thus, definitive diagnosis was made > 7 months after initial presentation. By this time, the patient was profoundly deconditioned and no longer a candidate for systemic chemotherapy; he died approximately 1 month after diagnosis and 8 months after presentation. Recurrent hemoptysis along with widespread pulmonary nodules is a non-specific presentation, which can be caused by pulmonary angiosarcoma in rare cases. A surgical wedge biopsy is necessary for accurate diagnosis as percutaneous biopsies provide insufficient tissue to delineate the histopathological characteristics pathognomonic of this malignancy. A high index of suspicion and early surgical consultation is necessary to establish an accurate diagnosis and initiate timely treatment.
To enhance the competency of clinical medicine students in evaluating the severity of genetic disorders, this study first modularized an assessment of genetic diseases severity based on the World Health Organization's International Classification of Functioning, Disability and Health (ICF) framework. Then, this modular teaching framework was applied in teaching instruction. During the Medical Genetics course, the 2024 clinical medicine cohort at Hunan University of Medicine were clustered into a experimental group (6 classes, 203 students) and a control group (7 classes, 235 students) randomly. The experimental group engaged in the ICF-based module in the case analysis of genetic diseases, while students in the control group followed the traditional teaching methods. Learning outcomes were evaluated by analyzing the student-written genetic disease severity evaluation reports. Results demonstrated that students in the experimental group achieved significantly higher scores on their assessment reports (73.33±7.16) compared to the control group (64.79±5.45), with a statistically significant difference (t=13.87, P<0.001). Furthermore, textual analysis further revealed that reports from the experimental group contained a significantly higher frequency of keywords related to patient psychology, social functioning, and environmental factors, indicating a broader focus on the patients and more comprehensive and in-depth understanding of the patient's situation. These findings suggest that the ICF-based modular teaching framework significantly improves medical students' ability to conduct individualized assessments of genetic diseases and effectively fosters their humanistic care. This study provides an actionable and scalable teaching practice pathway for cultivating clinical genetic counseling professionals. 为提升临床医学生遗传病严重性的评估能力，本文首先基于世卫组织国际功能、残疾和健康分类(International Classification of Functioning, Disability and Health，ICF)框架，对遗传病严重性评估进行模块化整合，形成评估模型。继而在湖南医药学院2024级临床医学班级中随机抽取班级作为实验组(6个班级，203名学生)和对照组(7个班级，235名学生)，实验组学生在遗传病案例讲解中接受基于ICF框架的遗传学教学，对照组学生采用传统教学方式。通过评估学生撰写的遗传病严重性评估报告来检验学习效果。结果表明，实验组学生评估报告得分(73.33±7.16)显著高于对照组(64.79±5.45)，差异具有统计学意义(t=13.87，P<0.001)，并且实验组学生撰写的报告在结构上更具系统性。此外，实验组学生提及患者心理、社会功能及环境因素等关键词的频次显著高于对照组，表明实验组学生对患者的关注面显著拓宽，对患者处境的理解更为全面和深入。上述结果提示，基于ICF框架的模块化教学整合可显著提升临床医学生对遗传病的个体化评估能力，并有效培养其人文关怀精神。本文为临床遗传咨询人才培养提供了可操作、可推广的教学实践路径。.
Hydroxychloroquine (HCQ) is a cornerstone in treating autoimmune diseases and is generally well-tolerated. Cardiotoxicity is a rare but serious adverse effect of prolonged HCQ therapy. The progression of cardiac dysfunction may evade early detection with standard noninvasive investigations. This case report was prepared in accordance with the CABARET guidelines from the EQUATOR Network. The patient underwent comprehensive clinical evaluation for diagnostic clarification. A 57-year-old woman with Sjogren's disease (SjD) who was treated with HCQ 400 mg daily for nearly 21 years (cumulative dose ~ 3,000 g). The patient started to develop symptoms of syncope, shortness of breath and lower extremity edema. Noninvasive evaluation including echocardiography, coronary angiography, and cardiac magnetic resonance imaging failed to identify a clear etiology, demonstrating preserved ventricular size and systolic function without evidence of infiltrative or inflammatory cardiomyopathy. Continued decline in the patient's clinical status in addition to lack of response to medical therapy, an endomyocardial biopsy (EMB) was performed and revealed findings consistent with HCQ induced cardiotoxicity. HCQ was stopped; however, the damage was beyond reversal, so the patient ended up having an orthotopic heart transplantation. This case sheds light on an irreversible HCQ-induced cardiotoxicity that ended up with a heart transplantation. Despite extensive cardiac workup this adverse effect remained undetected until advanced disease. Delayed diagnosis can lead to irreversible cardiac damage and EMB should be considered in patients on prolonged HCQ therapy with unexplained cardiac symptoms and nondiagnostic workup. This can prompt early discontinuation of HCQ with potentially reversible damage and more favorable outcomes.
Combined oral contraceptives are widely used and generally considered safe. However, they have been associated with arterial thrombosis, including myocardial infarction, particularly in women with cardiovascular risk factors. This case adds to the limited literature highlighting the potential for combined oral contraceptive-induced myocardial infarction in individuals without traditional cardiovascular risk factors. A 28-year-old non-smoking Iranian woman with no significant medical history presented with 11 h of typical anginal chest pain radiating to the left arm and interscapular area. Electrocardiography revealed ST-segment elevations in leads V2-V5, and cardiac biomarkers confirmed myocardial infarction. She had been taking a second-generation combined oral contraceptive containing 150 µg levonorgestrel and 30 µg ethinyl estradiol for 13 years. Emergent coronary angiography demonstrated a thrombotic occlusion in the mid-left anterior descending artery without evidence of underlying atherosclerosis. Successful reperfusion was achieved via balloon angioplasty without stenting. The patient remained stable, was discharged on optimal medical therapy, and advised to discontinue combined oral contraceptives. At 3-month follow-up, cardiac Computed Tomography Angiography revealed a patent left anterior descending artery with no residual stenosis, and echocardiography showed improved systolic function. This case underscores the potential for thrombotic myocardial infarction in young women using combined oral contraceptives, even in the absence of conventional risk factors. It highlights the importance of considering hormonal contraceptive history in the diagnostic workup of acute coronary syndromes in young females. In addition, it demonstrates that Balloon angioplasty without stent placement may be effective in selected cases of non-atherosclerotic thrombotic occlusion.
Anorectal melanoma (AM) is a rare and aggressive malignancy that is often advanced at the time of diagnosis. This case demonstrates the importance of a prompt colonoscopic evaluation, especially in older patients presenting with new gastrointestinal symptoms, and underscores the need for further research establishing a standardized treatment protocol. We report a case of a 71-year-old white male who was referred to gastroenterology after noticing increased frequency of bright red blood per rectum following bowel movements. A subsequent colonoscopy revealed a 1.5-cm darkly pigmented, irregular mass in the anorectal region. The lesion was excised and sent for microscopic evaluation which disclosed highly malignant spindle and epithelioid cells producing a large amount of brown pigment. A diagnosis of anorectal melanoma was confirmed with positive immunohistochemical staining for S-100, HMB45, and Melan-A. A computed tomography (CT) scan of the abdomen and pelvis showed no evidence of metastasis. The patient then underwent a transanal resection of the area where the tumor was found. No residual melanoma was seen in the resected specimen. Follow-up evaluations over about 2 years have shown no evidence of recurrence. The positive outcome of this case highlights the importance of timely recognition as well as the ongoing need to explore and refine effective treatment options for AM.
Fascioliasis is a zoonotic disease in regard to public health, which is sporadically reported from different parts of the world. Adult worms infect the liver and bile ducts, but extrahepatic involvement and the development of parasitic myositis and muscle mass caused by Fasciola hepatica are uncommon and very rare. A 55-year-old Iranian female presented with a history of abdominal pain, epigastric tenderness without pallor and jaundice, along with significant weight loss for the past five months. Microscopic examination of the stool did not identify adult worms or parasite eggs. Laboratory findings were almost normal, while erythrocyte sedimentation rate (ESR) was 32 mm/hour, triglyceride 330 mg/dL and eosinophil 6%. Hepatitis B surface antigen (HBsAg) and anti-Hepatitis C virus (HCV) were non-reactive, whereas Hepatitis B surface antibody (HBsAb) was 260.7 IU/L. Ultrasound of the tissue revealed a mass in the abdominal wall in the right upper quadrant. After her admission to the hospital, a flatworm emerged from the rectus abdominis muscle of the patient. Histopathological examination of the excised lesion showed parasite-induced myositis with abscess formation and a granulomatous foreign body reaction. Based on the morphological characteristics of the worm and serological assessment, the worm was identified as Fasciola hepatica. The patient was treated with triclabendazole and underwent clinical and paraclinical follow-up for 90 days. This case highlights the importance of diagnosing Fasciola hepatica in the differential diagnosis of unexplained subcutaneous or intramuscular nodules, especially in patients with a history of travel to endemic areas. The current case is one of the rarest cases of extrahepatic involvement (muscular fascioliasis) reported in Iran, a country where Fasciola infection is endemic in its northern regions.
Vaginal cuff dehiscence (and evisceration, VCDE) after hysterectomy is a rare, but potentially serious complication. Current medical literature describes the most critical risk factors for VCDE after hysterectomy as surgical technique, use of thermal energy, early mechanical stress (especially sexual intercourse), infection, smoking, and obesity. There is currently no evidence regarding a potential association between VCDE and anti-HER2 therapy. We report a late-onset VCDE in a patient receiving combined antihormonal and anti-HER2 therapy, and discuss the hypothesis-generating question of a potential association, as well as the bowel-preserving surgical management. We report the case of an 81-year-old White woman with hormone receptor-positive breast cancer receiving antihormonal therapy with anti-HER2 treatment and recurrent vaginal vault prolapse who presented with acute vaginal evisceration of the small bowel. She had undergone a vaginal hysterectomy for pelvic organ prolapse 3 years earlier. Emergency surgical management was performed via laparotomy with repositioning of the small bowel, vaginal cuff closure, and concomitant sacrocolpopexy. One week later, re-laparotomy was required due to an open abdomen associated with paralytic small bowel ileus; bowel resection was not necessary. The last follow-up was carried out 21 months postoperatively. The patient was asymptomatic and showed no evidence of recurrent prolapse. This case highlights a rare late-onset VCDE in a patient receiving combined antihormonal and anti-HER2 therapy, a clinical context not previously described. While causality cannot be established, this report raises the hypothesis of a potential association between targeted therapy and impaired tissue integrity.
Complicated hereditary spastic paraplegias (complicated HSPs) are a subtype of hereditary spastic paraplegias (HSPs), which refer to a group of hereditary neurodegenerative diseases of the nervous system characterized by stiffness of the lower limbs and hyperreflexia, and are accompanied by other symptoms. HSPs exhibit high clinical and genetic heterogeneity, making diagnosis challenging, especially in early-onset cases. Mutations in the COQ4 gene have been rarely reported to be associated with complicated HSPs, and most previously reported COQ4-related HSP cases lack detailed clinical descriptions or involve novel mutations. Through this case report, we aim to expand the genotype spectrum of complicated HSPs caused by COQ4 gene variants, provide detailed clinical and genetic data for early-onset HSP, and help improve the understanding and diagnosis of COQ4-related neurodegenerative diseases in clinical practice. A 12-year-and-9-month-old Chinese boy presenting with progressive spastic paraplegia of both lower limbs, gait disturbance, and mild tremor who had an undetermined genotype, as well as his parents were recruited. Whole-exome sequencing (WES) was performed on the proband and his parents. Two COQ4 variants, c.433C > T (p.Arg145Cys) and c.719G > T (p.Arg240Leu), were identified, among which c.719G > T (p.Arg240Leu) represented the first reported case in complicated hereditary spastic paraplegia (HSP), and c.433C > T (p.Arg145Cys) had been previously documented. Our case expanded the genotype of complicated HSPs caused by COQ4 compound heterozygous mutations. It highlighted that COQ4-related HSP may present with progressive gait disorder, spasticity, tremor, and distinct exercise-induced myalgia, underscoring the value of WES in diagnosing atypical pediatric spastic paraplegias.