To report a case of carbamazepine-induced neurotoxicity presenting as paroxysmal dysarthria with ataxia, and to highlight clinical risk factors and diagnostic challenges. This case mimicked a transient ischemic attack (TIA), representing a significant diagnostic pitfall. We present the case of a 71-year-old woman who developed acute paroxysmal dysarthria and ataxia after initiating carbamazepine for otoneuralgia. Differential diagnoses considered included TIA, seizure, drug-induced neurotoxicity, and vestibular disorders. Diagnosis was established through medication review, temporal correlation, and a positive rechallenge test. The Naranjo Adverse Drug Reaction Probability Scale was applied. Symptoms resolved completely upon drug withdrawal and recurred immediately after re-exposure (the patient self-administered a single 100 mg dose on day 4, with immediate symptom recurrence, confirming causality). Serum drug levels were not measured due to limitations of our hospital's laboratory facilities; the Naranjo score was 5 (probable ADR). This case illustrates that carbamazepine may induce specific neurotoxicity even at standard doses in susceptible elderly patients. Paroxysmal dysarthria is a rare but underrecognized adverse reaction. Key clinical take-home points include vigilant clinical assessment, caution with potential drug-drug interactions, therapeutic drug monitoring, and pharmacogenetic profiling when indicated- all of which may aid in prevention and risk reduction.
Leprosy can mimic systemic lupus erythematosus (SLE) due to overlapping clinical, laboratory, and immunological features, frequently resulting in misdiagnosis and inappropriate immunosuppressive treatment. We report a case of leprosy initially misdiagnosed as SLE and systematically review the literature on leprosy cases mimicking SLE, emphasizing clinical, laboratory, therapeutic, and outcome characteristics, evaluated in light of the 2019 ACR/EULAR classification criteria for SLE. A systematic review was conducted according to PRISMA guidelines. PubMed, SciELO, and Google Scholar were searched for articles published up to August 2025. Case reports and case series describing leprosy previously diagnosed as SLE were included. The protocol was prospectively registered in PROSPERO (CRD420261283210). Twenty-three patients, including the index case, were analyzed. Most were female (78.2%), with a median age of 35 years (interquartile range [IQR] 30-47.5). Cutaneous manifestations were present in all patients, particularly malar rash (43.4%), photosensitivity (34.7%), and cutaneous nodules (30.4%). Osteoarticular involvement occurred in 78.2% and neurological manifestations in 43.4%. Antinuclear antibodies were positive in 74% of cases, frequently at low to moderate titers. Lepromatous leprosy was the most frequent form (69.5%). Prior to the correct diagnosis, 65.2% of patients fulfilled the EULAR/ACR classification criteria for SLE, 87% received corticosteroids and 69.5% antimalarials. Diagnostic delay exceeded one year in nearly half of cases. After initiation of multidrug therapy, 47% of patients showed clinical improvement, although leprosy reactions and residual symptoms remained common (35.3%). Leprosy should be considered in the differential diagnosis of SLE, particularly in patients presenting with cutaneous and articular manifestations accompanied by peripheral neuropathy and poor response to immunosuppressive therapy. By delineating recurring clinical patterns and diagnostic pitfalls, our findings provide practical clues for earlier recognition, helping to prevent diagnostic delay, inappropriate immunosuppression, and adverse outcomes.
Influenza infection is a significant cause of global illness and death. Although mainly a respiratory disease, it can be complicated by extra-pulmonary conditions like myocarditis and myopericarditis. The prevalence and range of influenza-associated myocarditis are not well understood, especially in the Middle East, where case reports are limited. We conducted a retrospective case series of adult patients admitted to King Abdulaziz Medical City in Riyadh, Saudi Arabia, from September 2024 to July 2025, with clinically diagnosed influenza-associated myocarditis. Diagnosis was based on the 2024 ACC Expert Consensus Decision Pathway criteria and a positive influenza PCR. Clinical data, diagnostic results, management strategies, and outcomes were collected from electronic medical records. Additionally, we performed a structured literature review of case reports and case series on influenza-associated myocarditis to provide context for our findings. Four patients (ages 37-79 years; three women) were identified with clinically diagnosed influenza-associated myocarditis. Presentations ranged from mild myopericarditis with preserved hemodynamics to fulminant myocarditis complicated by cardiogenic shock requiring venoarterial extracorporeal membrane oxygenation and Impella support. All patients received oseltamivir, and selected patients received colchicine, nonsteroidal anti-inflammatory drugs, or immunomodulatory therapy. Three patients recovered with normalization of cardiac function, while one patient with fulminant disease died despite aggressive support. The literature review identified 24 published cases of influenza-associated myocarditis. Most patients were previously healthy young adults (median age 42.5 years), and 79.2% achieved complete recovery. However, 20.8% died, often following rapid progression to cardiogenic shock and multi-organ failure. Influenza-associated myocarditis is a rare, potentially fatal complication affecting healthy adults. Our findings highlight the importance of early recognition, prompt antiviral therapy, and access to mechanical circulatory support when needed. This case series, among the first from Saudi Arabia, along with a literature review, offers insights into the clinical spectrum, management, and outcomes of this underrecognized condition.
Inflammatory myofibroblastoma (IMT) is rare, and cases located in the limbs are even rarer. We report a case of a 69-year-old Chinese male with a mass in the right forearm. It was surgically removed, and the pathology showed inflammatory myofibroblastoma. This case is reported due to its rare location. The purpose of this case report is to highlight the uniqueness of the case, collect and analyze the imaging characteristics of the disease, and provide assistance for daily clinical diagnosis and treatment. A 69-year-old male patient was reported with an inflammatory myofibroblastoma in the right forearm. A superficial ultrasound revealed a hypoechoic mass in the subcutaneous tissue of the right forearm. MRI showed a space-occupying lesion in the proximal subcutaneous area of the right forearm, and contrast-enhanced scanning was recommended for further evaluation. Postoperative pathological findings showed a malignant tumor of soft tissue origin in the right forearm, and immunohistochemistry suggested inflammatory myofibroblastoma. In summary, Inflammatory myofibroblastic tumor (IMT) in adults is a rare condition. When routine ultrasound or imaging detects limb masses, this disease should be considered.
This article reports two elderly patients with Neuromyelitis Optica Spectrum Disorder (NMOSD) associated with gastric cardia cancer and pancreatic cancer, respectively each presenting distinctive clinical manifestations and diagnostic challenges. Case 1 involved a 69-year-old male who developed stroke-like symptoms after surgery for gastric cardia cancer, which later progressed to optic neuritis, confirmed by positive aquaporin-4 (AQP4) antibodies in both serum and cerebrospinal fluid. Case 2 was a 64-year-old female whose initial presentation included optic neuritis and myelitis. Early cervical spinal MRI revealed a focal space-occupying lesion, and AQP4 antibodies were negative, complicating the diagnosis. However, the diagnosis was ultimately established based on characteristic clinical symptoms, a marked response to corticosteroid therapy, and the appearance of longitudinally extensive transverse myelitis (LETM) on imaging during relapse. This report describes the dynamic imaging evolution of spinal cord inflammatory demyelinating pseudotumor in NMOSD. It also expands the spectrum of tumors associated with NMOSD to include gastric cardia cancer and pancreatic cancer. It emphasizes that in elderly patients or those with atypical NMOSD presentations, potential oncological etiologies should be considered and targeted malignancy evaluation should be performed. Furthermore, a multidisciplinary collaborative approach is essential to develop individualized treatment strategies that simultaneously address both the neoplasm and the immune-mediated demyelinating disorder.
Haemangiosarcoma (HSA) is a highly aggressive vascular tumour in dogs, characterised by rapid growth, early metastasis, and poor prognosis despite conventional treatment with surgery and doxorubicin-based chemotherapy. A 14-year-old spayed female Maltese (4.14 kg) was presented with progressive abdominal distension and anorexia. Imaging revealed a large retroperitoneal mass, and computed tomography identified a 12.1 × 8.0 × 8.5 cm heterogeneous tumour. Exploratory laparotomy confirmed the lesion was unresectable, and biopsy findings were most consistent with presumptive haemangiosarcoma (HSA) due to the small, cautery-affected specimen. Medical therapy was initiated with toceranib phosphate (10 mg every other day), followed one week later by propranolol (0.3 mg/kg twice daily) and piroxicam (0.3 mg/kg once daily). The patient was monitored every 2-4 weeks with physical examination and serial haematology and serum biochemistry. Two months after initiating therapy, the abdominal ultrasonography demonstrated tumour reduction to 4.9 × 2.7 cm, and after 7 months the mass was no longer detectable on radiographic follow-up imaging (radiography and ultrasonography). Throughout treatment, haematologic and biochemical values remained within reference intervals, no clinically significant adverse effects were observed, and the owner reported resolution of abdominal distension with improved activity. This case demonstrates that combined therapy with toceranib, propranolol, and piroxicam achieved radiographic and clinically sustained remission of unresectable canine presumptive HSA while preserving quality of life. These findings suggest that multimodal therapy targeting angiogenesis and tumour growth pathways may represent a promising alternative strategy for managing this malignancy and warrant further clinical evaluation.
The increased demand for implants in the dental surgeon's clinical routine, methods and techniques have been created that involve non-invasive quantitative analysis, do not damage the bone-implant interface and objectively measure implant stability, such as resonance frequency analysis. The aim of this case report is to present a clinical case of a patient who came to the Dental School Clinic with a diagnosis of oblique root fracture with an indication for root extraction and immediate implant placement. The Osstell was used as another technique, in addition to the torque wrench, to measure the primary stability of the implant, which showed high stability, proving the importance of using the Osstell in the clinic.
Chronic eosinophilic pneumonia (CEP) is a rare eosinophilic lung disease characterized by pulmonary and peripheral blood eosinophilia. It predominantly affects middle-aged women and remains a diagnosis of exclusion based on compatible clinical and imaging findings together with the absence of secondary causes. Distinguishing CEP from acute eosinophilic pneumonia (AEP) or infectious processes may be challenging, particularly in atypical presentations. Systemic corticosteroids represent the standard therapy and typically produce rapid clinical improvement, although relapse is common after treatment tapering or withdrawal. We report the case of a 65-year-old female smoker presenting with persistent cough, dyspnea, and chest pain, initially treated as community-acquired pneumonia. The diagnostic work-up included laboratory testing, pulmonary function assessment, high-resolution computed tomography (HRCT), bronchoscopy with bronchoalveolar lavage (BAL) and bronchial biopsy. Peripheral eosinophilia and elevated inflammatory markers were observed. HRCT demonstrated bilateral upper-lobe-predominant consolidations associated with centrilobular opacities and tree-in-bud changes. Microbiological and parasitological investigations were negative. BAL did not demonstrate eosinophil predominance; however, bronchial biopsy revealed eosinophil-rich inflammatory infiltrates. After exclusion of infectious and parasitic causes and integration of clinical, imaging, and histopathological findings, a diagnosis of chronic eosinophilic pneumonia was established. Oral methylprednisolone (16 mg/day) was administered for approximately 8-10 weeks, followed by gradual tapering to 8 mg/day, resulting in marked clinical and radiological improvement. One month after corticosteroid withdrawal, symptoms recurred, requiring treatment reintroduction. Follow-up HRCT demonstrated complete resolution of the consolidations. An exploratory attenuation-based aeration analysis suggested regional hyperaeration in areas previously affected by consolidation, although its clinical significance remains uncertain. This case illustrates the diagnostic complexity of CEP when acute-like clinical features, atypical imaging findings, and discordant bronchoalveolar lavage results coexist and highlights the importance of integrating clinical, imaging, microbiologic and histopathological data to establish the diagnosis.
Sporadic Progressive Ataxia with Palatal Tremor (PAPT) is an extremely rare movement disorder syndrome with only three autopsy reports published in the literature to date. Previously described cases showed hypertrophic olivary degeneration with tau-positive neuronal inclusions, although differences were noted in tau isoforms and the presence of additional neurodegenerative pathology. We report an additional autopsy case with morphological similarities in pathology but without tau inclusions. To describe clinically, radiologically and neuropathologically a case of PAPT. Retrospective clinical data collection from electronic records, authorized video material and postmortem neuropathology study. A 74-year-old women presented with a gait ataxia and parkinsonism at the age 67, followed three years later by rhythmic chin and palatal tremor. Probable REM sleep behavior disorder was reported approximately ten years before symptom onset. MRI demonstrated bilateral T2/T2-FLAIR hyperintensity and enlargement of the inferior olivary nuclei. The clinical progression was dominated by the ataxia, and the tremor remained throughout the disease course. Neuropathological findings showed hypertrophic olivary degeneration with glomeruloid bodies, without tau pathology and occasional neuronal and dendritic p62 immunoreactivity. Focal neuronal loss and gliosis were observed in cerebellar dentate nucleus. There was substantia nigra neuronal loss with Lewy pathology in neocortical stage (Braak stage 5), but without involvement of inferior olivary nucleus or cerebellum. Our findings confirmed hypertrophic olivary degeneration as the pathologic substrate of PAPT. The absence of tau pathology distinguishes it from previously reported cases, indicating heterogeneity in the underlying pathophysiological disease mechanisms. Concomitant Lewy body pathology may have contributed to parkinsonism and REM sleep behavior disorder.
HIST1H1E syndrome is caused by frameshift variants in the HIST1H1E gene; while strabismus and refractive errors have been previously reported, this is the first case describing optic and cerebellar atrophy in an affected individual to our knowledge. A 51-year-old woman with intellectual disability, recurrent falls, and progressive visual difficulties required comprehensive ophthalmic, neurologic, and genetic evaluation. Systemic examination revealed characteristic facial dysmorphism, brachydactyly, ataxic gait, tremor, and positive Romberg's sign. Ophthalmic examination showed bilateral optic disc pallor with patchy visual field deficits. Optical coherence tomography (OCT) confirmed retinal nerve fiber involvement and ganglion cell layer (GCL) loss. Electrophysiology supported bilateral optic neuropathies. Computed Tomography demonstrated optic nerve and cerebellar atrophy. Whole-exome sequencing identified a pathogenic heterozygous variant c.464dupC.p.(Lys157Glufs*39) in the HIST1H1E gene. This patient expands the HIST1H1E syndrome phenotype to include cerebellar and optic nerve atrophy compatible with a neurodegenerative process.
Hydroxyurea (HU) is a first-line oral cytoreductive agent for selected patients with myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), due to its efficacy and tolerability. Although cutaneous ulceration is a recognized complication of long-term HU exposure, HU-associated digital gangrene is rare, and upper-extremity involvement in PV has not previously been reported. We describe the first case of HU-associated digital gangrene in a patient with PV. A 72-year-old man with well-controlled Janus kinase 2 (JAK2)-positive PV, treated with HU for more than a decade, developed painless dry gangrene of the right index and middle fingers. Vascular imaging showed no significant arterial occlusion or embolic source. Hematologic parameters remained within target ranges, and the workup for autoimmune disease, infection, and hypercoagulability was unremarkable. HU was discontinued, and the ischemia stabilized without surgical intervention. With no alternative etiology identified, delayed HU-associated vasculopathy was suspected. Our literature review identified three previously reported cases of HU-associated digital gangrene, though limited to the lower extremities - two in chronic myeloid leukemia (CML) and one in sickle cell disease (SCD). In each case, gangrene developed after prolonged HU exposure, alternative etiologies were not substantiated, and stabilization or clinical improvement followed HU withdrawal. The present case aligns with this pattern while extending the reported phenotype to well-controlled PV and upper-extremity digits. Given the small number of reported cases, the pathophysiology remains incompletely defined and is largely extrapolated from studies of more frequently described HU-associated ulceration, histopathologic reports of HU-related tissue injury, and in vitro studies of HU effects on endothelial and circulating cells. Plausible mechanisms include cumulative endothelial injury, localized thrombo-occlusive microvascular dysfunction, impaired vascular and cutaneous repair, and interaction with PV-related microvascular susceptibility. Clinicians should include HU-associated vasculopathy in the differential diagnosis of otherwise unexplained digital ischemia, as prompt drug cessation may limit progression and improve digit salvage.
Short dental implants (SDIs) have emerged as a promising, less invasive alternative to conventional-length implants (CLDIs) for oral rehabilitation in patients with limited bone height, reducing the need for additional surgical procedures while maintaining functional and aesthetic success. This systematic review and meta-analysis aimed to answer: "Do single crowns supported by SDIs have a clinical success rate comparable to (or non-inferior to) that of CLDIs?", focusing on survival rates, periodontal health, marginal bone loss (MBL), and biological complications. A comprehensive search was performed in Embase, Lilacs, PubMed/MEDLINE, Science Direct, Scopus, Google Scholar, and ProQuest, including all available years. Randomized and non-randomized clinical trials comparing single crowns supported by SDIs and CLDIs were included. Studies had to assess survival, periodontal health, MBL, and biological complications. Retrospective, non-comparative, and unspecified designs, reviews, and case reports were excluded. Screening and selection were conducted through titles, abstracts, and full-text reviews. Following PRISMA guidelines, data extraction and quality assessment were performed. The review was registered in PROSPERO. Risk of bias was evaluated using RoB2 and ROBINS-I, and meta-analyses were conducted with random-effects models, with a statistical significance of p < 0.05. The outcomes evaluated were implant survival, MBL, and probing depth (PD), measured by standardized mean differences (SMD) and relative risks (RR) with 95% confidence intervals (CIs). A total of 1146 potential studies were identified; 626 were screened, 30 fully reviewed, and 17 included. All studies showed a high risk of bias. SDIs presented survival rates comparable to CLDIs in both splinted (RR = 0.98; 95% CI = 0.96-1.00; p = 0.05) and non-splinted single crowns (RR = 0.96; 95% CI = 0.91-1.00; p = 0.07). MBL showed a small but statistically significant reduction for both (non-splinted: SMD = - 0.11; p = 0.03; splinted: SMD = - 0.41; p = 0.01), with lower PD in non-splinted crowns (SMD = - 0.64; p = 0.03). This systematic review with meta-analysis suggests that SDIs achieve clinical outcomes comparable to, and not inferior to, CLDIs for splinted or non-splinted single crowns regarding implant survival up to 10 years. Despite methodological limitations, SDIs may represent a viable and less invasive treatment alternative.
This study aimed to report a rare case of a large occult intraorbital branch foreign body initially misdiagnosed as orbital cellulitis and conjunctival contusion, and to summarize clinical experience to improve the diagnosis and prognosis of similar cases. A retrospective case report following the CARE guidelines, detailing the clinical manifestations, diagnostic process, surgical intervention, and follow-up outcomes of a 60-year-old male patient with a large occult intraorbital branch foreign body. A 60-year-old male presented with right ocular swelling and pain for 2 days after a tree branch laceration and was initially diagnosed with right orbital cellulitis and conjunctival contusion. Symptoms did not improve after conventional anti-infective treatment. Orbital magnetic resonance imaging (MRI) revealed a linear abnormal signal in the right medial rectus muscle, consistent with an intraorbital foreign body (highly suggestive of a tree branch) with multiple surrounding infectious foci. Emergency surgery was performed to remove a 2 cm branch foreign body, combined with debridement, drainage, and standardized post-operative anti-infective and anti-inflammatory therapy. Visual acuity gradually recovered: right eye visual acuity improved to 0.5 at discharge and 0.8 at the 1-month follow-up. At the 2-month follow-up, diplopia had resolved completely, and the right eye showed full extraocular motility without limitation. For patients with ocular trauma caused by vegetative foreign bodies, clinicians should maintain a high suspicion for intraorbital foreign bodies, perform detailed history taking and comprehensive physical examinations, and perform orbital MRI in a timely manner to avoid misdiagnosis and missed diagnosis. Computed tomography is the primary screening modality for orbital trauma, while MRI is the preferred examination for suspected vegetative intraorbital foreign bodies. Early surgical removal of the foreign body combined with standardized anti-infective treatment is crucial for improving prognosis and reducing severe complications.
Music-based interventions have been employed in aphasia rehabilitation, modulating components such as rhythm, melody, and prosody to promote language recovery through the engagement of neuroplastic mechanisms. To address the lack of integrative reviews encompassing the full range of clinical applications, we conducted a systematic review of 33 peer-reviewed studies - including randomized controlled trials, pre-post designs, and single-case reports - that quantitatively assessed expressive oral language in patients with aphasia within the context of structured music-based protocols. Specifically, we aimed to comprehensively examine the clinical use of music-based interventions for aphasia, with a focus on the therapeutic role of specific musical components (e.g., melody, rhythm) and their neurofunctional implications for language recovery. Results revealed a range of beneficial interventions, showing improvements both in linguistic behaviour and underlying neural function. This review provides a comprehensive overview of music-based approaches addressed to patients with aphasia, offering a valuable insight into their clinical diversity and therapeutic potential.
Epithelioid Hemangioendothelioma (EHE) is a rare malignant vascular neoplasm with an unpredictable clinical behavior and often delayed diagnosis. The malignancy arises from many anatomical sites, with the liver being the most common primary site. This report portrays a young patient who presented atypically with a multifocal hepatic epithelioid hemangioendothelioma (HEHE) and highlights the challenges faced during the diagnosis and management of such rare malignancies. A 28-year-old male patient from Palestine presented with progressive headache associated with constitutional symptoms. Diagnostic imaging revealed disseminated disease throughout the body. CT-guided liver biopsy confirmed neoplastic cells arranged in small nests and individually, some of which showed intracytoplasmic vacuoles within a hyalinized stroma. Immunohistochemistry was positive for CD31, CD34 and FLI-1, supporting the endothelial origin. Metastatic HEHE was established; a biological treatment plan with Pazopanib (Votrient) was initiated, and the patient was followed for 4 years. During the follow-up period, serial imaging revealed no significant regression or progression of the lesions, indicating stable disease with the treatment used. The case emphasizes the clinical intricacy of HEHE, given its rarity, the lack of standardized treatment guidelines, and the tumor's unpredictable course. Specifically, this case illustrates these challenges within the Palestinian healthcare system.
Skeletal Class III malocclusion represents a significant challenge in orthodontics due to its impact on facial aesthetics and function, particularly in patients with limited residual growth. Bone-anchored maxillary protraction (BAMP) with miniplates has emerged as an effective alternative to conventional orthopaedic approaches, providing greater skeletal effects with less dentoalveolar compensation. This study reports the clinical management of a patient with limited growth potential and skeletal Class III malocclusion, treated with miniplate-assisted maxillary protraction followed by aligner therapy. A 9-year-8-month-old female patient, presenting with maxillary retrusion and mild mandibular protrusion (SNA=79.2°, SNB=80.8°, ANB=-1.6°, AO-BO=-11.1mm), was treated with four Bollard miniplates and Class III elastics for 9 months. The orthopaedic phase resulted in significant maxillary advancement (SNA increased to 85.1°), improved sagittal relationship (ANB increased to 3.5°), and improved Wits score from -11.1mm to 1.8mm, with minimal changes in mandibular position. Structural overlays demonstrated that the maxillary advancement achieved during the orthopaedic phase was accompanied by vertical mandibular development during the orthodontic phase, thereby favourably redirecting the initial hypodivergent pattern and improving facial balance. Subsequent orthodontic refinement was performed with clear aligners, totalling 130 aligners in multiple refinement stages, leading to Class I relationships in the canines and molars, improved intercuspation, and correction of midline deviation. Although aligner therapy required multiple refinements, satisfactory functional and aesthetic results were obtained without the need for orthognathic surgery in this case. Maxillary protraction assisted by miniplates followed by aligner therapy was effective for the treatment of this case of skeletal Class III malocclusion.
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.
Granulocyte colony-stimulating factor (G-CSF) is an endogenous glycoprotein that is classically known to be important in the proliferation of hematopoietic progenitor cells and the differentiation of neutrophils. In recent years aberrant G-CSF expression has been described in various malignancies and is believed to play a role in tumor progression, however, G-CSF-producing hepatocellular carcinoma (HCC) is extremely rare. Here, we describe a rare case of locally advanced presumed G-CSF-producing HCC. To the best of our knowledge, this is one of the few reported cases of a patient with presumed G-CSF-producing HCC who did not exhibit any specific clinical symptoms and was successfully operated upon after undergoing conversion therapy. The patient had no symptoms but a massive tumor in the right hepatic lobe accompanied by significant leukocytosis. The lesion was originally considered unresectable. Following combination therapy with transcatheter arterial chemoembolization (TACE) in conjunction with targeted therapy and immunotherapy, the tumor was successfully downstaged to a resectable state. The patient tolerated the combined regimen well without significant adverse events, and curative-intent surgical resection was performed. Postoperative immunohistochemical analysis revealed strongly positive expression of G-CSF in the HCC tissue, supporting the presumptive diagnosis of G-CSF-producing HCC, although pre-treatment serum G-CSF levels were not measured. G-CSF-producing HCC is rare and is usually linked to aggressive behavior and poor prognosis. In this case, however, no recurrence was seen at 6-month follow-up and the patient was in good general condition. Clinicians should suspect G-CSF-producing HCC in patients with HCC who have unexplained leukocytosis. For those individuals who are not candidates for upfront resection, a combined approach using TACE, targeted therapy and immunotherapy may be a feasible therapeutic option, although further studies are needed to validate this approach.
Femoral hernias are relatively uncommon in clinical practice but are of considerable clinical significance because they are associated with a higher risk of strangulation happening. Even rarer is the discovery of the appendix within the hernia sac, a condition known as De Garengeot hernia, and within this already highly unlikely scenario, having a tumor within the hernia is exceedingly rare. Among such cases, Goblet cell carcinoma (GCC) represents an incredibly rare occurrence. We present the case of an 83-year-old man who had undergone transabdominal preperitoneal (TAPP) repair for an incarcerated femoral hernia. During the operation, the incarcerated part was found to be the tip of the appendix, which made it necessary to perform a laparoscopic appendectomy (LA). Subsequent histopathological examination revealed GCC invading the muscularis propria, and given the patient's advanced age, significant comorbidities, and the family's stated preference, a right hemicolectomy was not performed. At the 1-year follow-up, computed tomography (CT) and tumor markers indicated no sign of recurrence. For older individuals with co-existing health conditions and those at the early stage of GCC, a cautious management approach backed by active monitoring might be a sensible option following a thorough evaluation of risks and benefits, and this instance provides a realistic view on dealing with such rare and medically complex scenarios.
Renal hilar Castleman disease is a rare lymphoproliferative disorder characterized by non-specific radiological manifestations. It is easily misdiagnosed as primary renal or adrenal malignant tumors in clinical practice, which may consequently lead to unnecessary radical nephrectomy. A 51-year-old female with a history of right breast cancer treated with mastectomy and adjuvant endocrine therapy 7 years prior presented with right nipple erosion. Biopsy confirmed Paget's disease, and preoperative staging with contrast-enhanced computed tomography (CT) incidentally revealed a solitary soft-tissue mass adjacent to the left renal hilum and abdominal aorta, with a maximum diameter of 8.5 cm × 6.2 cm and moderate heterogeneous enhancement. Strip-like and punctate calcifications were observed within the lesion, accompanied by reactive lymph nodes at the periphery and compression as well as displacement of the left renal vessels. The patient presented no specific clinical symptoms related to the retroperitoneal mass. According to comprehensive preoperative assessment and multidisciplinary consultation, the patient underwent complete radical resection of the renal hilar mass combined with left nephrectomy. Postoperative histopathological examination and immunohistochemical staining confirmed the diagnosis of hyaline-vascular type Castleman disease. The patient recovered uneventfully after surgery, and no local recurrence or distant metastasis was observed during the 12-month follow-up, with a favorable long-term prognosis. This case highlights the radiological difficulties in differentiating renal hilar Castleman disease from malignant renal tumors and emphasizes the necessity of standardized preoperative multimodal evaluation, which helps avoid excessive surgical intervention such as blind radical nephrectomy for unexplained retroperitoneal masses.