Tibial refracture combined with intramedullary nail (IMN) plastic deformation after initial internal fixation is a rare clinical complication. Its management involves removal of the bent IMN and reduction/fixation of the refracture. Currently, there is no unified standardized treatment protocol, and the technical operation is challenging. Further accumulation of case evidence is needed to optimize diagnostic and therapeutic strategies. A 28-year-old male patient underwent tibial IMN internal fixation for a midshaft tibial fracture 2 years prior. On July 6, 2025, he was admitted to the hospital due to right leg swelling, pain, and limited mobility for 5 hours following a collision between his bicycle and a car. The diagnosis was right midshaft tibial refracture after internal fixation and right distal fibular fracture. Imaging examinations revealed plastic deformation of the tibial IMN, with 13° lateral curvature in the coronal plane and 19° anterior angulation in the sagittal plane. The treatment plan included: first, open reduction and plate internal fixation of the right fibular fracture to maintain limb length; second, direct removal of the bent IMN using an impactor; third, intramedullary canal reaming; and finally, closed reduction and internal fixation of the right tibial fracture with a lengthened IMN. X-ray re-examination 1 month postoperatively showed callus formation. The patient resumed normal weight-bearing ambulation 2 months postoperatively with good functional recovery. This case validates the rationality of the 20° critical angle for closed removal of bent IMNs proposed by Kose et al. In the treatment of tibial refracture with IMN plastic deformation, prioritizing fibular fixation to maintain limb length is a key surgical principle. For bent IMNs with angulation <20°, direct removal and replacement with a new IMN is a safe and effective treatment strategy.
Adenomyoepithelioma (AME) of the breast is a rare benign disease in which glandular epithelial cells and myoepithelial cells proliferate to form a mass. Preoperative diagnosis is considered difficult, and diagnosis by core needle biopsy (CNB) is particularly difficult. Due to its heterogeneous features and growth patterns of the tumor cells constructing the tumor mass, this tumor, although benign in nature, is misdiagnosed as ordinary breast cancer and often treated by surgery for breast cancer. Here, a rare case of AME of the breast complicated with cysts diagnosed by preoperative CNB is reported. A 27-year-old female presented with a chief complaint of a lump in the upper-inner quadrant of the left breast that had been present for 6 months. Bloody discharge had been noted from the left nipple for 1 week prior to her visit. A mass was palpable on physical examination. Mammography and ultrasonography detected a cystic mass and a solid mass in the upper-inner quadrant of the left breast. Fine-needle aspiration of the cystic mass revealed blood-derived cells and foam cells. CNB of the solid mass in the left breast revealed small and large ducts within a cyst, with myoepithelial cells proliferating between them. The stroma exhibited mucinous edema-like changes. Immunohistochemical staining for p63 and alpha-smooth muscle actin confirmed the proliferation of myoepithelial cells. The diagnosis of CNB was benign AME. Subsequently, the left breast mass was resected. The final pathological diagnosis was benign AME. Here, a rare case of AME of the breast complicated with cysts diagnosed by preoperative CNB is reported.
Benign maxillary sinus lesions, such as fibrous dysplasia, osteoma, ameloblastoma, and dentigerous cysts, are uncommon and may be misinterpreted as chronic rhinosinusitis due to overlapping clinical characteristics. A combination of histopathological evaluation and imaging is essential to achieve an accurate diagnosis and guide appropriate surgical intervention. This case series presents four patients ranging in age from 27 to 41 years, each diagnosed with a distinct benign maxillary sinus lesion. The patients presented with different symptoms including nasal blockage, postnasal drip, and facial discomfort. Radiologic evaluation demonstrated four unique lesion patterns: fibro-osseous growth, calcified masses, cystic changes with ectopic teeth, and solid expansile tumors. Three patients were managed with endoscopic sinus surgery, while one required open resection due to tumor recurrence and bony involvement. Histopathological examination confirmed the diagnoses of bilateral dentigerous cysts, ameloblastoma, fibrous dysplasia, and benign osteoid lesion, respectively. Although uncommon in otorhinolaryngology practice, benign maxillary sinus lesions carry important diagnostic and therapeutic implications. Endoscopic techniques provided effective management in the majority of patients, reducing morbidity while preserving normal anatomical structures. However, open surgery and interdisciplinary planning could be required for locally aggressive tumors, such as maxillary ameloblastomas. Each case highlights the importance of individualized management based on radiographic extent, recurrence risk, and lesion behavior. Despite their rarity, benign maxillary sinus lesions should be considered in individuals with atypical or refractory sinonasal symptoms. Accurate histopathological analysis combined with thorough radiologic evaluation remains necessary. While endoscopic approach is generally successful, open resection should be reserved for complicated or recurrent cases.
Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) can extract cystic fluid for diagnosis, but evidence is mainly limited to case reports with infection risk. Against this background, we will report the clinical case that explores the improvement strategy of EBUS-TBNA combined with a three-way stopcock device to reduce infection rates and review the relevant literature, using the search term '(((endobronchial ultrasound-guided transbronchial needle aspiration) OR (EBUS-TBNA)) AND ((cysts) OR (mediastinal cysts) OR (bronchogenic cysts)))' from PubMed. A 66-year-old female patient presented with exertional dyspnea, and computed tomography (CT) showed a 59 mm × 53 mm cystic lesion in the right upper posterior mediastinum, which was treated by EBUS-TBNA (utilizing a 22-gauge needle and a three-way stopcock), successfully aspirating 170 mL of clear yellow fluid. Postoperative tracheal compression was relieved with immediate symptomatic relief. No recurrence or complications were observed during the 3-month postoperative follow-up. Additionally, a total of 22 papers were included. Among 20 case reports (49 cases), 17 improved, 16 required surgery, and 7 had postoperative infections. While EBUS-TBNA serves as a valuable diagnostic and therapeutic tool for cystic lesions, postoperative infection remains a significant concern, particularly during necrotic cavity puncture. EBUS-TBNA combined with negative pressure drainage of the three-way stopcock optimizes the workflow to prevent spillage and may potentially mitigate infection risks by maintaining a closed system. While long-term outcomes require further observation, this technique may represent a feasible adjunct to EBUS-TBNA in selected patients with mediastinal cystic lesions.
Unilateral scapular pain associated with cervical radiculopathy is frequently observed before the onset of pain in the upper extremity; but the underlying mechanism remains unclear. To better elucidate the cause of this scapular pain, we present two cases of herpes zoster with simultaneous skin rash in both the upper extremity and suprascapular or scapular region, which correspond to the painful scapular region in case of C6 or C8 cervical radiculopathy, respectively. Case 1: a middle-aged man was observed to have a blistering herpes zoster skin rash on both the radial side of his upper extremity and the suprascapular region on the left side, which corresponded to the innervation area of the left C6 spinal nerve. Case 2: an elderly man observed a blistering herpes zoster skin rash on both the ulnar side of his upper extremity and scapular region on the right side, which corresponds to the innervation area of the right C8 spinal nerve. We propose that simultaneous herpes zoster rash provides a valuable model for detailing cervical dorsal ramus innervation. This may support the hypothesis that pathological conditions occluding the cervical foramen, which involve the dorsal ramus, can cause neurological scapular pain.
SMARCA4-deficient undifferentiated lung carcinoma is a rare, highly aggressive tumor with a dismal prognosis and limited response to conventional therapies. This case report presented an exceptional instance of long-term survival exceeding 41 months in a patient with unresectable stage IIIA (T3N1M0) disease, to provide insights into potential therapeutic avenues for this challenging disease. This article reports a case of a 51-year-old male patient diagnosed with SMARCA4-deficient undifferentiated carcinoma in the left upper lung lobe, unresectable stage IIIA (T3N1M0) disease. During the hospitalization, the patient received multimodal therapy combining chemotherapy, immunotherapy, and radiotherapy, followed by immunotherapy maintenance. Specifically, the patient underwent six cycles of induction therapy with the etoposide plus cisplatin regimen combined with sintilimab, followed by intensity-modulated radiation therapy (pGTV 48 Gy, pCTV 48 Gy), and subsequently received maintenance sintilimab monotherapy. Over a follow-up exceeding three years, the primary lesion completely disappeared, another lesion was significantly reduced and remained stable, with no distant metastases (such as brain, bone, or liver metastases) throughout the course, achieving sustained deep remission. As of the latest reexamination in May 2025, the progression-free survival reached 41 months, and the overall survival has not been reached yet. For this highly aggressive SMARCA4-deficient tumor, the sequential treatment strategy of "induction chemotherapy-immunotherapy followed by consolidative radiotherapy" enables long-term disease control, and immunotherapy maintenance also demonstrated significant value in delaying disease progression. The experience from this case could inform the diagnostic and therapeutic approach for this rare subtype of lung cancer.
Detection of colorectal cancer (CRC) during pregnancy is rare; moreover, its diagnosis is often delayed because its symptoms overlap with the physiological changes that occur during gestation. Reports of pregnancies complicated by advanced malignancy in which non-reassuring fetal status (NRFS) occurred are rare. Herein, we report a case involving a twin pregnancy in which single fetal death served as a crucial clue for the detection of advanced CRC with multiorgan metastasis. A 36-year-old pregnant woman was admitted at 26 weeks and 3 days with suspected preterm contractions, a NRFS with elevation of inflammatory markers or activated coagulation. Despite thorough monitoring, intrauterine fetal death (IUFD) was observed for Fetus I at 28 weeks and 0 days. Imaging studies performed to investigate the fetal death and maternal inflammation revealed multiple masses in the liver. At 28 weeks and 2 days of gestation, findings suggestive of NRFS were observed for Fetus II. Emergency cesarean section was performed on the same day. Histopathology of both placentas demonstrated extensive infarctions. Following delivery, a thorough examination of the maternal liver led to a diagnosis of advanced CRC with multiple metastases. The patient underwent chemotherapy but succumbed to progressive disease 13 months later. Placental dysfunction due to maternal malignancy-associated hypercoagulability was considered the likely mechanism of IUFD. In cases of advanced cancer during pregnancy, attention must also be paid to fetal-placental function. In pregnant women, when IUFD occurs accompanied by unexplained maternal inflammatory response elevation and coagulation activation, thorough investigation for malignant tumors is necessary.
According to statistics, airway injuries occur most often as a result of car accidents or blunt force-induced chest trauma. However, in recent years, there has been an increase in the number of reports of medically induced tracheal injuries compared to the previous ones, mostly due to operations such as tracheal intubation and neck surgery. In this article, we report a case of severe tearing of the membranous part of the trachea due to tracheal intubation for total lung lavage in The First Affiliated Hospital of Chengdu Medical College. This was a 52-year-old female patient who was admitted to the hospital, for recurrent cough and sputum for more than 6 months with 3 days of exacerbation. Her diagnosis was silicosis. During the whole lung lavage, the patient suffered from a severe airway laceration. After comprehensive consideration, we decided to abandon surgical and invasive treatment procedures and instead chose a conservative treatment plan. Eventually, the self-repair of the damaged membranous part of the airway was achieved. Most past case reports of tracheal injuries have opted for a surgical approach to treatment. However, after reviewing the development of the treatment plan for this patient, we concluded that a shift from surgical to nonsurgical treatment was feasible.
Contralateral axillary lymph node metastasis (CAM) following radical mastectomy for breast cancer is a rare and clinically challenging event, with a reported incidence of approximately 1.9% to 6.0%. Its pathogenesis, often attributed to altered lymphatic drainage after primary breast surgery, is not fully elucidated. The classification of CAM remains controversial, as current American Joint Committee on Cancer (AJCC) staging guidelines categorize it as distant metastasis (M1), while emerging clinical evidence suggests its biological behavior and prognosis may align more closely with advanced regional (stage III) disease. This ambiguity complicates management, as standardized treatment guidelines are lacking. Accurate diagnosis is imperative and requires thorough investigation to exclude a new occult primary malignancy or metastases from other tumors. We report a detailed case of a 39-year-old female who developed synchronous CAM and extensive contralateral chest wall skin involvement, presenting as nodules and ulceration, 2 years after undergoing a right modified radical mastectomy for triple-negative breast cancer. Despite undergoing multiple lines of systemic therapy over several years, the disease progressed locally at these contralateral sites without evidence of other distant metastases. After comprehensive imaging and histopathological evaluation confirmed the metastatic origin from her primary breast cancer, the patient underwent aggressive local surgical resection. This included a left radical mastectomy with nipple-areola complex preservation, wide resection of the chest wall tumor, and immediate reconstruction using a pedicled latissimus dorsi flap. The patient tolerated the procedure well, achieved clear margins, and had a satisfactory postoperative recovery. CAM represents a complex clinical scenario that necessitates meticulous differential diagnosis and multimodal evaluation. The outcome of this case, alongside a review of the literature, suggests that in selected patients without concomitant distant metastases, CAM may behave as a locoregional progression rather than systemic dissemination. Therefore, a blanket classification as stage IV disease may lead to the undertreatment of potentially curable local recurrences. Current evidence supports considering an aggressive local therapeutic approach, including surgery and/or radiotherapy, combined with systemic therapy to enhance local control and improve prognosis. An individualized, comprehensive treatment strategy is strongly recommended to optimize survival outcomes in such rare cases.
Gallbladder perforation caused by the anatomical proximity of a liver abscess or indirect inflammatory erosion occurs in less than 3% of reported cases. This case report describes the clinical course of an 84-year-old male patient who developed sepsis secondary to gallbladder perforation caused by a liver abscess. This report, through a representative case, discusses its diagnostic challenges and management strategies to enhance clinical awareness. The patient presented with a one-day history of right upper quadrant pain and fever. No signs of acute abdominal conditions, such as gastrointestinal perforation, acute pancreatitis, acute cholangitis, or acute appendicitis, were observed on the admission abdominal computed tomography (CT) scan. Within 2 days, the condition progressed with worsening abdominal pain, high fever, and hypotension. An incidental finding on contrast-enhanced ultrasound revealed a liquefied abscess in liver segment V communicating with the gallbladder lumen, confirming the diagnosis of a liver abscess with secondary gallbladder perforation. Blood culture identified Escherichia coli, indicating sepsis progression and diagnostic delay. This course illustrates rapid deterioration from localized infection to systemic life-threatening illness with organ dysfunction. Immediate interventions included ultrasound-guided percutaneous abscess drainage and culture-directed antibiotic optimization, supported by nutritional and symptomatic care. Following treatment, the patient recovered favorably, with imaging showing reduced abscess size, restored gallbladder wall integrity on follow-up ultrasound, and no recurrence on subsequent monitoring. This case unveils a rare yet fatal complication of liver abscess perforating into the gallbladder. It serves as a critical reminder for clinicians to include this entity in the differential diagnosis when a liver abscess is adjacent to the gallbladder and systemic infection worsens. Subtle clues on contrast-enhanced CT or ultrasound, such as focal discontinuity of the gallbladder wall, are key to early identification. A staged approach centered on interventional drainage, supported by a multidisciplinary team, is central to the successful treatment of such critically ill patients.
Nephroblastoma, also known as Wilms tumor, is one of the most common malignancies diagnosed in children. Contrarily, the incidence in adults is only 0.2 cases per million people annually. As such, there are no standardized guidelines for clinical management in adults. This case describes an adult male in his twenties who presented to the emergency department with 1 week of intermittent hematuria and right flank pain. Imaging unexpectedly revealed a large, radiographically abnormal-appearing mass in the upper pole of the right kidney. The decision was made to biopsy the mass to assist with decisions regarding intervention in case neoadjuvant chemotherapy was indicated. This was later pathologically found to be consistent with nephroblastoma (Wilms tumor). The patient underwent adrenal-sparing right radical nephrectomy with regional lymph node dissection followed by adjuvant chemotherapy with vincristine and dactinomycin. Prior to this, he underwent testicular sperm extraction (TESE) due to azoospermia and fertility concerns. He tolerated this well and has had no evidence of disease on surveillance imaging 9 months postoperatively. This case report provides unique insight into specific diagnostic and intraoperative surgical considerations for abnormal adult presentation of nephroblastoma. Specifically, we discuss the role of preoperative biopsy for consideration of neoadjuvant therapy and the role of adrenal-sparing and lymph node sampling. We highlight this in the context of the current literature available regarding the management of adult nephroblastoma.
Sebaceous carcinoma (SC) is a rare malignant tumor originating from skin appendages. Most cases occur in the periocular region, whereas extraocular SC accounts for only about 25% of cases and is especially rare on the scalp. Extraocular SC often presents without characteristic clinical features, frequently leading to misdiagnosis as benign lesions, such as epidermal cysts. Here, we report a 36-year-old male with an atypical presentation of extraocular SC in the occipital region, highlighting its diagnostic challenges and clinical importance. Our patient presented with a slowly enlarging subcutaneous mass in the left occipital region that had persisted for more than 2 months. The mass was non-tender, showed no ulceration, and had not increased rapidly in size, mimicking benign lesions such as an epidermal cyst. There was no family history of malignancies or hereditary dermatological disorders. Color Doppler ultrasonography revealed a hypoechoic scalp nodule measuring approximately 2.3 cm × 2.0 cm × 1.0 cm. The lesion was initially diagnosed as a pilar cyst and surgically excised. Histopathological examination demonstrated a large epithelial-derived tumor characterized by indistinct margins and asymmetry. Immunohistochemical analysis showed androgen receptor (AR; +), P63(+), gross cystic disease fluid protein-15 (GCDFP-15; -), and Ki-67(+, 30%). The diagnosis was confirmed as SC of the left occipital region. Mohs micrographic surgery was recommended; however, the patient was lost to follow-up. This case illustrates that extraocular SC of the scalp can be easily misdiagnosed as a benign cyst owing to its atypical presentation. Imaging alone is insufficient for a definitive diagnosis. Clinicians should remain alert to red flags suggesting malignancy in scalp lesions, including firm consistency, persistent growth, poorly defined margins, and unusual clinical features, regardless of patient age. Early skin biopsy remains the gold standard for accurate and timely diagnosis. This case underscores the importance of recognizing rare extraocular SC to prevent misdiagnosis and delays in treatment.
Metastatic melanoma remains a therapeutic challenge despite major advances in immunotherapy and targeted therapies. Immune checkpoint inhibitors and BRAF/MEK inhibitors have improved survival in selected patients; however, their use may be limited by immune-related adverse events, acquired resistance, deterioration in quality of life, and economic burden. Intraperitoneal ozone therapy (IPO3) has been described as a feasible and well-tolerated complementary approach in advanced oncologic settings, although clinical evidence remains limited. This case report describes the clinical and metabolic evolution of a patient with refractory metastatic melanoma treated with high-dose IPO3 after progression under immunotherapy and intolerance to targeted therapy. A 66-year-old woman with a history of cutaneous melanoma developed extensive metastatic disease involving subcutaneous, muscular, pulmonary, pleural, and left adrenal sites. Disease progression was documented after adjuvant pembrolizumab, and targeted therapy with dabrafenib plus trametinib was discontinued because of clinically significant systemic toxicity. In June 2024, the patient initiated high-dose IPO3. Serial positron emission tomography-computed tomography (PET-CT) scans showed sustained disappearance of pathological hypermetabolic uptake in previously affected systemic sites, with isolated persistence and oscillation of metabolic activity in the left adrenal lesion. Additional IPO3 cycles were administered, and focal radiotherapy was directed to the persistent adrenal lesion. Treatment was clinically well tolerated, with no significant adverse events. Progressive functional improvement was documented, with Karnofsky performance status increasing from 60% at treatment initiation to 90% during follow-up. In this case, high-dose IPO3 was temporally associated with sustained systemic metabolic remission and objective functional improvement in refractory metastatic melanoma. Although a causal relationship cannot be established from a single observation, these findings support further prospective studies to evaluate the safety, efficacy, and potential immunometabolic mechanisms of IPO3 as a complementary strategy in selected oncologic scenarios.
Acute eosinophilic pneumonia (AEP) is a rare disorder characterized by febrile illness, diffuse pulmonary infiltrates, and pulmonary eosinophilia. Diagnosis is challenging, especially in elderly patients, where atypical presentations can mimic community-acquired pneumonia (CAP) or even lung malignancy. Here we report a case of AEP in an elderly male with multiple comorbidities, highlighting the diagnostic dilemma and the critical role of a multidisciplinary team (MDT) approach. A 75-year-old male patient with a history of hypertension, type 2 diabetes mellitus, and cerebral infarction presented with a two-week history of intermittent fever and non-productive cough. Initial laboratory examinations at an outside hospital showed elevated white blood cell count and high-sensitivity C-reactive protein (CRP), with normal eosinophil count. Prior to admission, the patient had received antipyretic agents and empirical anti-infective therapy. Initial chest computed tomography (CT) revealed bilateral pulmonary infiltrates, pleural effusion, bronchial stenosis, and marked mediastinal lymphadenopathy, which was highly suggestive of malignancy. During hospitalization, the patient was treated with cefoperazone-sulbactam (2 g every 8 hours) and moxifloxacin (0.4 g once daily) for 5 days. Although the fever resolved, the imaging abnormalities persisted. Analysis of bronchoalveolar lavage (BAL) fluid showed an eosinophil percentage of 40%. A MDT consultation recommended further evaluation, and CT-guided lung biopsy confirmed interstitial eosinophilic infiltration, leading to a diagnosis of AEP. Treatment with methylprednisolone at a dose of 40 mg daily resulted in rapid clinical and radiological improvement. At 1-month follow-up, the pulmonary lesions had resolved significantly. This case underscores that AEP can present features highly suggestive of malignancy in elderly patients. A high index of suspicion is required when radiographic findings are incongruent with the clinical course. An MDT approach is invaluable and BAL fluid cytological analysis is a crucial diagnostic step. Lung biopsy may be necessary, in complex cases, to exclude alternative diagnosis.
Adrenocorticotropic hormone (ACTH)-independent macronodular adrenal hyperplasia (AIMAH) is a rare etiology of Cushing's syndrome (CS), frequently linked to germline mutations in the ARMC5 gene. These variants exhibit autosomal dominant inheritance with incomplete penetrance and are associated with bilateral adrenal nodularity and autonomous cortisol secretion. In this familial case, the proband's father carried the same heterozygous variant but remained asymptomatic, illustrating the incomplete penetrance characteristic of ARMC5-associated disorders. A 51-year-old male presented with clinical manifestations of hypercortisolism. Biochemical and imaging studies confirmed ACTH-independent cortisol excess due to bilateral adrenal macronodular hyperplasia. Genetic testing revealed a heterozygous pathogenic variant in ARMC5 (c.2692C>T, p.Arg898Trp). Following laparoscopic right adrenalectomy, serial follow-up showed a progressive decline in serum cortisol, albeit with levels persistently above normal and sustained ACTH suppression. Surveillance imaging at six months revealed expected postsurgical changes on the right side, while contralateral lesions demonstrated progression to a cystic morphology. Notably, this cystic transformation represents a novel imaging finding in ARMC5 mutation carriers. This report describes a novel ARMC5 missense mutation in a familial case of AIMAH, highlighting the utility of genetic testing in diagnosis and family screening. The findings further emphasize the necessity of long-term monitoring for mutation carriers due to the variable expressivity of the disease, informing both clinical surveillance and therapeutic decision-making.
Apert syndrome is a rare congenital malformation caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Characteristic imaging findings include bilateral premature closure of the coronal suture, midfacial hypoplasia, and symmetrical syndactyly of the fingers and toes. These features may be accompanied by lateral ventricle dilation, absence of the corpus callosum, cervical vertebral fusion, and other anomalies. However, in the second trimester, syndactyly and extracranial anomalies may be the only detectable signs, which complicate early diagnosis. The purpose of this study is to improve the early diagnosis rate of Apert syndrome. We report an atypical case of Apert syndrome carrying the FGFR2 S252W mutation, which typically associated with severe cranial deformities and cleft palate, but prenatal ultrasound at 23 weeks revealed symmetrical syndactyly of both hands and feet and a sacrococcygeal soft tissue mass resembling a "tail" without cranial abnormalities. Although prior studies have linked this mutation to advanced paternal age, the father in this case was 25 years old, which does not align with this association. This case demonstrated that Apert syndrome may present prenatally features other than cranial abnormalities. A practical screening strategy should therefore combine detailed second-trimester ultrasound evaluation of extremities and cardiac structures with prenatal genetic testing, even in the absence of cranial abnormalities.
HSD10 mitochondrial disease (HSD10MD) is a rare X-linked disorder caused by pathogenic variants in the HSD17B10 gene, encoding the mitochondrial enzyme 17β-hydroxysteroid dehydrogenase type 10 (HSD10). This enzyme is crucial for isoleucine degradation, neuroactive steroid metabolism, and mitochondrial function. HSD10MD typically presents in infancy or early childhood with severe neurodevelopmental regression, seizures, and cardiomyopathy, often leading to early mortality. Adult cases are extremely rare, with milder phenotypes associated with somatic mosaicism. We describe a 49-year-old French male presenting with hypertrophic cardiomyopathy, intellectual disability, psychomotor delay, stereotypies, and epilepsy. Developmental delay was noted after 18 months, and the first seizure occurred at age 14 years, followed by a prolonged coma. Cardiac evaluation revealed left ventricular hypertrophy, dilation, and left ventricular ejection fraction of 45%. Neurodevelopmental features included behavioral disturbances, echolalia, and inability to acquire literacy. Genetic testing initially identified no abnormalities, but exome sequencing revealed a pathogenic HSD17B10 variant (c.388C>T, p. Arg130Cys) with a variant allele frequency of 55%, consistent with somatic mosaicism. This mosaicism may explain the milder phenotype compared to the severe, early-onset presentations typically associated with this mutation. This case underscores the clinical variability of HSD10MD and highlights the diagnostic importance of genetic testing, particularly in adults with atypical or milder phenotypes. The association of hypertrophic cardiomyopathy with HSD10MD, as demonstrated here, suggests that cardiac involvement can dominate the clinical picture in some cases. The role of somatic mosaicism in moderating disease severity warrants further exploration. This report contributes to the limited literature on adult presentations of HSD10MD and expands the phenotype associated with the p. Arg130Cys mutation.
Hepatocellular carcinoma (HCC) with tumor thrombus extending into the inferior vena cava (IVC) represents an advanced stage of disease and is associated with a poor prognosis. Surgical resection combined with thrombectomy remains a potentially curative option but carries substantial perioperative risk. Intraoperative transesophageal echocardiography (TEE) provides real-time imaging that may improve procedural safety and surgical precision. We report the case of a 49-year-old woman with advanced HCC complicated by tumor thrombus extending from the left portal vein and left hepatic vein into the IVC, with intermittent prolapse toward the right atrium. Preoperative assessment showed Child-Pugh class A liver function (score 6), an Eastern Cooperative Oncology Group (ECOG) performance status of 2, chronic hepatitis B infection without prior antiviral therapy, and preserved coagulation function. Imaging demonstrated cirrhosis and splenomegaly. The patient underwent left hemihepatectomy with IVC tumor thrombectomy under continuous intraoperative TEE guidance. TEE enabled dynamic assessment of thrombus mobility, guided repositioning of the thrombus from the right atrium into the IVC, informed the clamping strategy, and allowed immediate detection of acute bland thrombus formation after vascular repair. Prompt re-intervention was undertaken, and IVC patency was successfully restored. Histopathology confirmed moderately to poorly differentiated HCC with vascular invasion and tumor thrombus [pT4N0M0, American Joint Committee on Cancer (AJCC) 8th edition]. Postoperatively, the patient developed intrahepatic recurrence and received transcatheter arterial chemoembolization (TACE) and targeted therapy. At 12-month follow-up, no recurrence of IVC tumor thrombus was detected. This case highlights the value of anesthesiologist-led intraoperative TEE in complex oncovascular surgery. Continuous TEE guidance facilitated key vascular maneuvers, supported real-time intraoperative decision-making, and enabled early recognition of a potentially life-threatening complication. TEE should be considered an important intraoperative navigation tool in high-risk HCC thrombectomy.
Epidermal growth factor receptor (EGFR) exon 20 insertion (ex20ins) mutations represent a non-classical subtype within EGFR-mutated non-small cell lung cancer (NSCLC), with patients historically showing poor responses to immunotherapy. However, trials such as IMpower150 and ORIENT-31 have demonstrated that adding an anti-angiogenic agent to immunotherapy and chemotherapy can improve outcomes in the broader population of EGFR-mutant NSCLC. This provides a rationale for evaluating a similar quadruplet strategy specifically in the ex20ins subset. We present six cases of advanced EGFR ex20ins-mutated NSCLC treated at Chinese PLA General Hospital with the quadruplet regimen. Four received it as first-line therapy, and two as second-line therapy after targeted agents. Four out of six patients achieved a partial response (PR). The median progression-free survival (PFS) was 14.7 months [95% confidence interval (CI): 2.1-27.3], and the mean overall survival (OS) was 34.2 months (95% CI: 17.5-50.9). Treatment-related adverse events (TRAEs) were common but manageable. Hematological toxicities, including neutropenia and anemia, occurred in all six patients. Non-hematological TRAEs included hypertension (in five patients), gastrointestinal reactions (in three patients), and abnormal liver function (in two patients). All were grade one to two, with no discontinuations due to toxicity. This small case series describes preliminary antitumor activity and a manageable safety profile with the quadruplet regimen in EGFR ex20ins-mutated NSCLC, warranting further investigation.
Although inadvertent intrathecal injection of medications is rare, it often leads to catastrophic neurological complications. This report describes a case of accidental intrathecal injection of high-dose magnesium sulphate combined with a local anaesthetic during anaesthesia for orthopaedic surgery, aiming to raise clinical awareness of safety regarding drug administration routes. An 80-year-old female patient underwent emergency spinal anaesthesia for surgical repair of a left femoral neck fracture. Due to the inadvertent addition of magnesium sulphate to bupivacaine for intrathecal administration, the patient developed acute hypotension and bradycardia, requiring vasopressor support to maintain circulation. Postoperatively, she exhibited lethargy, persistent hypotension, fever, decreased upper limb muscle strength, and complete paralysis of both lower limbs. Following symptomatic management, her condition gradually improved: hemodynamic stability was restored within 24 hours, and complete recovery of consciousness, motor, and sensory functions to preoperative baseline levels was achieved within 39 hours. The patient was discharged on postoperative Day 8 and showed no neurological sequelae during the two-week follow-up period. This case report demonstrates that inadvertent intrathecal injection of magnesium sulphate during anaesthesia can lead to severe complications. Local pharmaceutical manufacturers are advised to modify ampoule appearance, optimize internal risk-based segregation of high-risk medications, and enforce double-check protocols to reduce the recurrence of similar incidents.