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Hyperglycemic chorea (HC), also known as diabetic striatopathy, is a rare, potentially reversible complication of poorly controlled diabetes mellitus. It manifests as involuntary, often unilateral, choreiform or ballistic movements. Despite its clinical significance, HC remains underrecognized, and its pathophysiology is not fully understood. We present a case of HC and a narrative review of the published case reports to characterize its epidemiology, clinical features, imaging findings, treatment, and outcomes. We conducted a narrative review of case reports and case series on HC using PubMed/MEDLINE from inception to 1 September 2024, following PRISMA guidelines. Inclusion criteria were English-language reports of adult patients (≥18 years) with chorea attributed to hyperglycemia. A total of 80 publications encompassing 100 patients were included. The mean age was 66.6 years, with a female predominance (67%). Hemichorea was more common (71%), with left-sided preponderance. Most patients (75%) had a prior diagnosis of diabetes, and the mean presenting blood glucose and HbA1c were 468 mg/dL and 13.7%, respectively. Imaging revealed basal ganglia hyperintensity on MRI in 80% of cases. Treatment primarily involved insulin therapy, with 69% receiving adjunctive anti-chorea medications. Symptom resolution occurred in 73.9% of patients, with a mean recovery time of 36.7 days. HC is an important differential diagnosis for acute-onset chorea in elderly patients with uncontrolled diabetes. Prompt recognition and glycemic control are key to symptom resolution. Neuroimaging, particularly MRI, plays a crucial role in diagnosis, and adjunctive pharmacotherapy may aid in symptom management.
Macrococcus caseolyticus is a Gram-positive bacterium mainly isolated from dairy products and animal skin and is usually associated with animal infections. M. caseolyticus comprises two subspecies, M. caseolyticus subsp. caseolyticus and M. caseolyticus subsp. hominis. Here, we report a fatal bloodstream infection caused by M. caseolyticus subsp. caseolyticus in China and characterize the clinical isolate by genomic and phenotypic analyses. Strain WH712 was isolated from the blood culture of a 91-year-old male patient and identified by matrix-assisted laser desorption ionization/time-of-flight mass spectrometry. Whole-genome sequencing was performed using the Illumina HiSeq platform. Antimicrobial susceptibility testing was conducted using the AutoMic-i600 system, and biofilm-forming capacity was evaluated using a 96-well microtiter plate assay. WH712 was initially identified as M. caseolyticus by MALDI-TOF MS and confirmed as M. caseolyticus subsp. caseolyticus by whole-genome analysis. Homology-based genomic analysis identified putative homologs of bopD, ami, srtE, and pfbA, which have been associated in other bacteria with biofilm-related regulation, adhesion, and cell-surface functions. These findings suggest that WH712 may harbor genomic features relevant to host colonization and persistence. The isolate was phenotypically susceptible to most tested antibiotics but showed intermediate resistance to clindamycin, possibly associated with a vgaB homolog and efflux-related homologs, including macB and sdrM. Phenotypic testing demonstrated that WH712 had strong biofilm-forming capacity, comparable to that of Staphylococcus aureus ATCC 29213, which may have contributed to bacterial persistence and the poor clinical outcome. This study reports a fatal human bloodstream infection associated with M. caseolyticus subsp. caseolyticus in China. Whole-genome analysis and phenotypic testing showed that this clinical isolate had a strong biofilm-forming phenotype, which may have contributed to bacterial persistence. However, the poor clinical outcome should be interpreted primarily in the context of the patient's advanced age, severe comorbidities, and impaired host defenses.
Passenger lymphocyte syndrome (PLS) is an alloimmune complication of ABO-mismatched solid organ or hematopoietic stem cell transplantation characterized by the production of antibodies by donor-derived B lymphocytes against the recipient's red blood cell antigens. Its incidence, risk factors, and management remain poorly defined because many cases are subclinical, and most reports are case based. This study aimed to summarize the available literature on PLS, focusing on its incidence, immunohematologic mechanisms, clinical features, and management. We systematically searched PubMed and Embase for publications up to August 2025 and included case reports, case series, and cohort studies describing PLS after kidney, liver, lung, intestinal, and hematopoietic stem cell transplantation. Data on epidemiology, ABO constellation, antibody specificity, clinical presentation, treatment, and outcomes were extracted. We identified 64 studies reporting 135 cases of PLS. All were observational comprising 78% case reports/series and 22% retrospective cohort. 17 studies involved kidney transplantation, 23 liver, 7 lung, 6 intestinal, 1 heart, and 10 hematopoietic stem cell transplantations. The reported incidence ranged from approximately 9% in kidney to approximately 30-40% in liver and over 50% in lung transplantation. ABO isoagglutinins were the predominant antibodies, while Rh, Kidd, Kell, and Lewis specificities were also implicated. Most cases presented within 1-3 weeks post-transplant with abrupt hemolysis, which was usually self-limiting; however, severe cases required transfusion support, plasma exchange, or rituximab. Mortality was rare but occurred in delayed or fulminant cases. PLS is an under-recognized post-transplant complication with variable incidence and outcomes across organ types. Standardized diagnostic criteria, evidence-based management strategies, and multicenter studies are needed to guide clinical practice and improve patient outcomes.
Inflammatory bowel disease (IBD) case reports provide rich longitudinal insights but have rarely been analyzed using quantitative text-mining approaches. This study applied unsupervised machine learning to PubMed-indexed IBD case reports to identify long-term thematic structures spanning 60 years and evaluate whether major historical milestones in IBD care can be reconstructed from biomedical texts. Case reports indexed under the keyword "inflammatory bowel disease" were retrieved from PubMed (1960-2025). Titles, key words, and abstracts were concatenated and preprocessed before TF-IDF vectorization. Non-negative matrix factorization (NMF) was applied to extract latent topics, followed by KMeans clustering using the optimal topic number selected by silhouette evaluation (2-15 topics). Cluster characteristics were summarized using report counts and term frequency-inverse document frequency (TF-IDF) statistics. Top discriminative key words were used to assign data-driven topic labels. All analyses were performed in Python 3.10.5 (PyCharm 2022.1.3) using pandas, numpy, scikit-learn, matplotlib, and seaborn. A total of 18,458 case reports were analyzed. Across all time periods, two highly stable clusters consistently emerged, corresponding to Crohn's disease and ulcerative colitis. Early decades (1960-1989) emphasized pathology and complication-focused descriptions. Reports from the 1990s showed increasing terminology related to diagnosis and emerging therapies. From 2000 onward, infliximab-related and treatment focused terms predominated, paralleling the rise of biology. After 2010, clusters reflected diversified therapeutic strategies, including attention to extraintestinal manifestations and biologic or small-molecule therapies. Unsupervised machine learning successfully reconstructed important historical changes in IBD management, demonstrating that a large case report text corpus captures the evolution of clinical concepts and treatment paradigms over 60 years.
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.
Long COVID refers to multisystem symptoms that begin within 3 months of COVID-19 infection and persist for at least 2 months. To this day, Long COVID remains a challenging clinical entity and a substantial global health burden, with cardiovascular sequelae representing a prominent component. Patients frequently report a range of symptoms including chest pain, palpitations, fatigue, and exercise intolerance. This mini review aims to synthesize current evidence on the symptom profiles, underlying mechanisms, and clinical management of Long COVID-related cardiovascular complications. We conducted a targeted narrative literature search of PubMed/MEDLINE, Web of Science, Scopus, Embase, and Google Scholar for articles published up to January 2026 using combinations of "Long COVID," "post-acute sequelae of SARS-CoV-2 infection," "cardiovascular," "myocarditis," "endothelial dysfunction," "microvascular injury," "dysautonomia," "vaccination," and "SARS-CoV-2 variants." Original studies, systematic reviews, meta-analyses, clinical guidance documents, and selected mechanistic studies were prioritized, whereas non-peer-reviewed preprints and single case reports were included only when they provided unique mechanistic or hypothesis-generating information. Eligibility was based on cardiovascular relevance to Long COVID; studies without post-acute or cardiovascular relevance were excluded. The evidence indicates that cardiovascular Long COVID is heterogeneous and multifactorial, involving viral persistence, immune dysregulation, endothelial dysfunction, microvascular injury with hypercoagulability, autonomic nervous system dysregulation, and risk modification by acute disease severity, vaccination status, and SARS-CoV-2 variant period. Current management strategies remain primarily symptom-based, with emphasis on cardiovascular risk assessment, mechanism-informed phenotyping, graded rehabilitation, dysautonomia-directed treatment, and multidisciplinary follow-up. Cardiovascular Long COVID is a heterogeneous burden driven by interacting mechanisms. Current evidence supports subgroup-based risk stratification and mechanism-informed management, while future studies should standardize endpoints and evaluate mechanism-targeted interventions.
Mycobacterium abscessus (M. abscessus) infection following breast augmentation is a rare complication, yet evidence and standardized treatments remain limited. Challenges include diagnostic difficulties and prolonged treatment periods. We report two cases of M. abscessus infection following breast augmentation and conducted a structured narrative review of PubMed literature to explore prevention, diagnosis, and treatment strategies associated with this condition. The two patients underwent different breast augmentation procedures: one received autologous fat transfer, and the other had a prosthetic implant inserted. Following confirmation of M. abscessus infection via metagenomic next-generation sequencing (mNGS), both patients underwent through surgical debridement and drainage with daily amikacin irrigation. Combination antibiotic therapy was administered, including intravenous amikacin and linezolid, plus oral azithromycin. Both patients demonstrated good tolerance to the prescribed antibiotics, achieving effective infection control without recurrence over a 12-month follow-up period. The rigorous debridement and targeted antibiotic therapy significantly enhanced treatment efficacy. This study reports two rare cases of M. abscessus infection occurring after breast aesthetic surgery. Such infections are difficult to diagnose and are often associated with prolonged treatment courses. We successfully identified the causative pathogen through mNGS and implemented a comprehensive treatment strategy that included multiple surgical debridements, local irrigation, and combination antimicrobial therapy with azithromycin, amikacin, and linezolid, which was associated with favorable clinical outcomes. Rather than establishing a definitive management model, this study provides practical, case-based insights into the diagnosis and management of postoperative M. abscessus infections. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .
To report the first case of Koebner phenomenon induced by picosecond laser treatment in a patient with psoriasis. We analyzed the clinical and histopathological features and discussed the possible mechanism by which the laser's photomechanical effect triggered the reaction. A 58-year-old woman with well-controlled plaque psoriasis underwent 755-nm picosecond alexandrite laser treatment (pulse duration: 750 ps; fluence: 3.77 J/cm2; spot size: 3 mm) for seborrheic keratoses on the back and lower waist. Clinical, dermoscopic, and histopathological assessments were performed. One month after treatment, erythematous, scaly plaques emerged at the laser-irradiated sites. Clinical and dermoscopic findings were consistent with psoriasis. Histology confirmed psoriasiform changes, and immunohistochemistry demonstrated a T-cell-predominant infiltrate (CD3+) with dermal CD4+ predominance and epidermal CD8+ enrichment. Notably, no Koebner phenomenon was seen in coexisting melanocytic nevi. Lesions resolved after 4 weeks of topical corticosteroids, with no recurrence up to 4 months. To our knowledge, this is the first report of the Koebner phenomenon induced by picosecond laser therapy in a patient with psoriasis. Although picosecond lasers are known for minimal thermal damage, their photomechanical effects may activate immune responses and trigger new psoriatic lesions. Therefore, caution and careful monitoring are advised when using picosecond lasers in patients with psoriasis.
Muscle-specific tyrosine kinase antibody-positive myasthenia gravis (MuSK-MG), a subtype of myasthenia gravis (MG), follows an acute and severe disease course with suboptimal responses to standard treatments. Ofatumumab is a fully humanized anti-CD20 monoclonal antibody that induces potent and sustained B-cell depletion. Nonetheless, there are few reports on its use in sequential therapy failure after the failure of conventional drug treatment in MuSK-MG patients, especially in the Asian population. We report a 32-year-old female patient with anti-MuSK antibody-positive myasthenia gravis who was treated with ofatumumab as a rescue therapy after failing multiple treatments such as intravenous immunoglobulin (IVIG), plasma exchange, and efgartigimod, progressed to a crisis state necessitating prolonged mechanical ventilation. After the addition of ofatumumab to the combination of tacrolimus and corticosteroids, the clinical symptoms were significantly improved, the patient was successfully weaned from ventilator-assisted ventilation, the bulbar function was improved, and the limb muscle strength was significantly restored, and the patient was finally discharged uneventfully. This case is the first report of ofatumumab successfully treating refractory MuSK-MG in China, providing real-world evidence for its pivotal role in the treatment sequence. It also suggests that its characteristics, such as subcutaneous administration and low immunogenicity, may render it particularly suitable for high-risk patients, including those with concurrent infections.
Background and Clinical Significance: Susac syndrome is a rare autoimmune-mediated microangiopathy characterized by the triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss. Due to its variable onset and protean manifestations, the syndrome is frequently misdiagnosed, potentially leading to delayed treatment and irreversible organ damage. Ocular involvement is common and often provides the first diagnostic clue. Multimodal imaging, particularly fluorescein angiography (FA) and optical coherence tomography (OCT) as well as optical coherence tomography angiography (OCT-A), enables the detection of both acute and chronic ischemic retinal changes. Their complementary application yields critical insights into disease activity, supports monitoring of relapses, and guides therapeutic strategies. Case Presentation: We describe two patients with Susac syndrome presenting with distinct ocular and neurological features. A 43-year-old male developed recurrent BRAOs in both eyes, documented by FA, OCT, and OCT-A, with preserved best-corrected visual acuity (BCVA) of 0.00 logMAR in both eyes (OU). OCT demonstrated progressive thinning of the retinal nerve fiber layer (RNFL) and inner retinal layers, consistent with sequelae of microinfarctions, while FA revealed focal arteriolar wall hyperfluorescence. Immunosuppressive therapy with corticosteroids and mycophenolate mofetil stabilized his condition. A 31-year-old female with a history of migraine and encephalopathy showed thinning of the RNFL and ganglion cell layer (GCL) with macular atrophy on OCT. FA demonstrated peripheral arteriolar wall hyperfluorescence and microaneurysms. Despite these structural alterations, visual acuity remained unaffected. Serial imaging initially demonstrated mild progression on OCT and OCT-A, followed by disease stabilization under systemic immunosuppressive therapy. Conclusions: These cases highlight the pivotal role of multimodal imaging in the early recognition and long-term monitoring of Susac syndrome. OCT provides a detailed assessment of retinal microinfarctions and chronic atrophy, while FA remains indispensable for detecting vascular leakage and disease activity. The complementary use of OCT, OCT-A, and FA enhances diagnostic accuracy, facilitates timely therapeutic interventions, and supports individualized management. Regular ophthalmological monitoring, including advanced imaging modalities, should be considered an essential component of care in Susac syndrome.
Primary immune regulatory disorders (PIRDs) are defined by a loss of immune homeostasis and are clinically characterized by autoimmunity, autoinflammation, lymphoproliferation, infection susceptibility, and cancer predisposition. An increasing number of genetic defects have been described that result in impaired regulation of immune responses. Evolving clinical manifestations and variable disease spectrum lead to significant diagnostic challenges and treatment conundrum. In this review, we present 3 clinical vignettes of PIRDs, including cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency, lipopolysaccharide-responsive beige-like anchor protein deficiency, and suppressor of cytokine signaling 1 deficiency, to illustrate step-by-step approaches to diagnostic evaluation, disease assessment, and therapeutic management. We describe tailored treatment strategies, including immunomodulatory agents and hematopoietic stem cell transplantation, that address each patient's clinical manifestations, treatment response, and adverse effects. We also explain the clinical decision-making process, incorporating immunologic insights from the specific underlying genetic defects, relevant literature, and pearls from our clinical experience. Through these cases, we aim to offer a practical framework for clinicians managing patients with PIRDs.
Paratesticular leiomyomas are rare benign mesenchymal tumors arising from smooth muscle of paratesticular tissues, including vascular walls, dartos muscle, and spermatic cord. Angioleiomyoma represents a vascular-rich subtype. They usually present as slow-growing, painless extratesticular masses in middle-aged men. Imaging helps localization but is not diagnostic while histopathology with immunohistochemistry confirms diagnosis. A 49-year-old motocross athlete presented with progressive scrotal enlargement causing discomfort. Examination showed a large encapsulated mass displacing normal testes. Computed tomography revealed a large heterogeneous paratesticular lesion with neoangiogenesis. The mass was excised and scrotoplasty was performed. Histology showed benign spindle cells, low Ki-67 (~3%), and positivity for desmin and CD34. This case emphasizes recognition and testis-sparing management of paratesticular leiomyoma, ensuring excellent outcomes without need for long-term surveillance.
Background: Ocular Surface Squamous Neoplasia (OSSN) is the most common non-melanocytic ocular surface tumor. Treatment options include surgery and topical or injectable therapies, with interferon alpha-2b (IFNα-2b) being a well-tolerated immunomodulatory agent. This case report aims to explore the use of topical IFNα-2b in a patient with multiple OSSN recurrences. Case Description: A 65-year-old woman with a history of recurrent conjunctival papilloma, confirmed as OSSN, was treated with excision and cryotherapy, followed by subconjunctival IFNα-2b injections and eventually topical IFNα-2b (3 million international units-MIU/mL, four times daily for 12 weeks) after further recurrence. Initial discomfort and redness were reported shortly after starting topical therapy, but significant lesion regression was observed. After eight weeks, complete clinical remission was achieved. Despite premature discontinuation due to drug unavailability, no relapse was observed during a 3-year follow-up. Conclusions: This case underscores the clinical effectiveness and favorable tolerability of topical interferon alpha-2b in the management of recurrent ocular surface squamous neoplasia. The achievement of durable remission after a shortened treatment course highlights its potential as a flexible therapeutic option, with meaningful implications for clinical practice, particularly in settings with limited access to biologic therapies.
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.
Superficial ALK-rearranged soft tissue tumors are rare mesenchymal neoplasms showing heterogenous morphology and clinical behavior. They usually present as slowly enlarging nodules in young adults and can mimic other spindle cell tumors. While some ALK-altered mesenchymal neoplasms can be classified into defined WHO categories (e.g., inflammatory myofibroblastic tumor, epithelioid fibrous histiocytoma, and a few others), the nosology of many tumors has not yet been delineated, and they are currently reported descriptively. A case of a young man with a three-year follow-up is presented, providing prognostic insights into this entity. A healthy 23-year-old male presented with a purplish mass on the plantar left foot that had enlarged over one year. MRI showed a well-defined lesion without bone involvement. Histopathology revealed sheets of bland round to oval cells within myxohyaline stroma containing focal pseudorosette-like hyalinized nodules and increased mitotic activity. Immunohistochemistry demonstrated strong cytoplasmic ALK expression with heterogeneous expression for CD34, and S100. Focal EMA and pancytokeratin expression were noted. Next-generation sequencing confirmed a MYH10::ALK fusion. After excision with positive margins, re-excision revealed residual tumor as well. Further surgery was declined, and the patient developed metastatic disease during follow-up. This case broadens the spectrum of acral ALK-rearranged unclassified mesenchymal tumors and identifies MYH10 as a potential fusion partner in metastatic disease. Although these tumors are typically indolent, features such as increased mitotic activity may indicate more aggressive behavior. Diagnosis requires integrated histologic, immunophenotypic, and molecular assessment. This case highlights the metastatic potential of ALK-rearranged unclassified mesenchymal neoplasms, particularly those exhibiting a tyrosine kinase phenotype (co-expression of S100 and CD34), supporting their classification within the intermediate, rarely metastasizing category according to soft tissue tumor stratification principles. It further emphasizes the need for heightened clinical vigilance and thorough surgical management, which may influence long-term outcomes.
Metronidazole-induced encephalopathy (MIE) is an under-recognised but potentially reversible neurotoxic complication of metronidazole therapy, typically associated with high cumulative doses or underlying comorbidities such as hepatic dysfunction. Classic MRI findings include symmetric T2/FLAIR hyperintensities in the cerebellar dentate nuclei, brainstem, and splenium of the corpus callosum. We report a 64-year-old woman with well-controlled hypertension and type 2 diabetes who developed acute dysarthria, gait instability, and a generalized seizure after a 7-day course of metronidazole totaling 10.5 g. Laboratory evaluation was unremarkable.Stool cultures and pathogen-specific PCR were negative. The MRI shows bilateral symmetric T2/FLAIR hyperintensities in the dentate nuclei, brainstem, and splenium, consistent with MIE. No alternative etiology was identified. This case occurred in an adult without hepatic dysfunction. Metronidazole was discontinued immediately, leading to rapid clinical improvement and complete neurological recovery. This case highlights that MIE can occur even after short treatment durations and low cumulative doses, particularly in patients without traditional risk factors. Early recognition of the clinical and radiologic features is essential, as prompt drug cessation leads to full reversibility in most cases.
Dysphagia resulting from bilateral cerebellar and brainstem infarction represents one of the most severe and challenging subtypes of post-stroke dysphagia in clinical practice. This study reports a case involving the application of cerebellar repetitive transcranial magnetic stimulation (rTMS) combined with modified proprioceptive neuromuscular facilitation (PNF)-guided balloon dilation therapy for dysphagia in a patient with bilateral cerebellar and brainstem infarction. The patient resumed full oral intake for all three daily meals and was able to drink fluids independently. A three-month follow-up confirmed sustained normal swallowing function with no signs of recurrence. The innovative "central-peripheral" combined therapeutic approach proposed in this study may represent a promising therapeutic option for the management of severe dysphagia following infratentorial stroke. This study aimed to detail the swallowing function recovery process in a patient with severe post-stroke dysphagia (PSD) resulting from bilateral posterior cerebellar lobe infarction combined with brainstem infarction, following comprehensive intervention integrating cerebellar rTMS (central neuromodulation) and modified PNF-synchronized catheter balloon dilation (peripheral functional remodeling). Through this case, we seek to explore the feasibility, safety, and potential therapeutic efficacy of this combined regimen for such complex PSD. It is intended to provide novel clinical insights and practical evidence for developing individualized and precise swallowing rehabilitation strategies in the future.
Hepatocellular carcinoma (HCC) remains a leading cause of cancer mortality, with resistance to systemic therapies limiting outcomes. Arginine depletion with ADI-PEG 20 may enhance the efficacy of tyrosine kinase inhibitors (TKIs) such as lenvatinib. A 58-year-old man with chronic hepatitis B, cured hepatitis C, cirrhosis, diabetes, and hypertension was diagnosed with multifocal HCC and later developed para-aortic lymph node metastasis (BCLC stage C). He received lenvatinib (12 mg/d) plus compassionate-use ADI-PEG 20 due to favorable rs6025211-CC genotype. Combination therapy achieved a partial response with lymph node reduction from 3.7 to 1.7 cm and disease stability for nearly two years, with good tolerability. After switching to ADI-PEG 20 monotherapy, intrahepatic recurrence occurred but was controlled with radiofrequency ablation. Despite comorbidities and renal dysfunction, the patient has survived over four years since advanced disease was documented. This case provides clinically relevant insights into treatment selection in advanced HCC, suggesting that the combination of lenvatinib and ADI-PEG 20 may represent a promising, hypothesis-generating strategy, particularly where immunotherapy is not accessible, potentially overcoming TKI resistance through metabolic modulation. The patient achieved complete remission, with disappearance of metastatic lymph nodes and no viable liver tumor on CT in January 2026. However, these findings should be interpreted with caution given the limitations of a single case, and further studies are needed to validate this approach and define its clinical implications.
Clitoromegaly in a newborn with otherwise typically appearing female genitalia indicates exposure to excess androgens in fetal life. Congenital Adrenal Hyperplasia (CAH) is the most common cause of virilization at birth and empiric treatment is often pursued due to the risk of life-threatening adrenal crisis. Turner syndrome (TS) does not usually present with atypical genital appearance or other signs of hyperandrogenism, unless Y chromosome material is present. In this report, we describe a newborn who was noted to have clitoromegaly soon after birth with an otherwise normal exam and no syndromic features. Empiric treatment with hydrocortisone and fludrocortisone was started while initial laboratory results were pending. However, prior to receiving CAH hormonal panel results, karyotype testing returned as [45,XO(3)/46,XX(17)], consistent with mosaic TS. Testing for Y chromosome material, pursued as a potential cause of clitoromegaly, was negative. To add to the diagnostic dilemma, newborn screening for CAH was also negative. Results from the CAH panel done soon after birth eventually returned and revealed an elevated 17-hydroxyprogesterone level (17-OHP) of 1540 ng/dl, which is more congruent with non-classical CAH and does not typically result in clitoromegaly at birth. To clarify the diagnosis, a 250 mcg cosyntropin stimulation test was performed after holding steroids for a week. Post-stimulation 17-OHP of 82334 ng/dL confirmed classical CAH secondary to 21-hydroxylase deficiency and genetic analysis identified biallelic pathogenic deletions of CYP21A2 gene. Current TS guidelines recommend testing for Y chromosome material if masculinizing features develop. This case underlines the value of including CAH in the differential diagnosis as another potential cause of virilization in patients with TS. The concurrence of CAH and TS poses added complexity for clinical management due to their overlapping impacts on linear growth, puberty, reproductive function, bone density and metabolic health. This report describes a newborn girl who had an enlarged clitoris at birth, which can be a sign of exposure to high levels of male hormones before birth. The most common cause of this is Congenital Adrenal Hyperplasia (CAH), where the adrenal glands cannot make enough cortisol and instead produce excess male hormones. Absence of cortisol can result in a life-threatening condition called adrenal or salt wasting crisis, so treatment for suspected CAH is often started right away while awaiting test results. While CAH testing results were still pending, genetic testing revealed the baby had Turner Syndrome (TS), a condition where girls are missing all or part of one X chromosome. TS does not usually cause masculinization unless they also have Y chromosome material in their cells, but testing for Y material was negative in this baby. Adding to the puzzle, the newborn screening test for CAH also came back negative. However, more detailed blood tests, including a “stimulation test” showed elevated hormone levels consistent with CAH due to 21-hydroxylase deficiency, the most common enzyme deficiency causing CAH. Genetic testing found that both copies of the responsible gene had deleted sections. This is a rare case of a baby having both TS and CAH at the same time. Current guidelines recommend testing for Y chromosome material when girls with TS show masculine features. This case suggests that CAH should also be considered as a potential cause of hyperandrogenism. Managing both conditions together can be challenging because they both affect growth, puberty, fertility, bone health and metabolism.
Immunoglobulin G4-related mastitis (IgG4-RM) represents localized form of IgG4-related disease (IgG4-RD), an immune-driven condition marked by abnormal infiltration of plasma cells and raised IgG4 levels. Breast involvement is exceedingly rare and often misinterpreted as malignancy. We report a case of a 40-year-old woman presenting with right axillary lymphadenopathy and clinical suspicion of occult breast malignancy. Contrast-enhanced mammography (CEM) revealed multiple small, equal-density, microlobulated masses in both breasts, exhibiting moderate heterogeneous enhancement. The findings and pattern of involvement favored a secondary breast involvement rather than primary malignancy. 18F-fluorodeoxyglucose (FDG) positron emission tomography-computed tomography demonstrated FDG-avid lesions in the breasts, liver, and spleen, pointing toward systemic immune-mediated pathology. Core biopsy from the breast confirmed IgG4-RM. The patient responded extremely well to oral corticosteroids. This case highlights the diagnostic challenges of IgG4-RM and underscores the critical role of radiologic-pathologic correlation. To the best of our knowledge, this case is the first report in the literature to illustrate the CEM features of IgG4-RM, offering novel imaging insights into this underrecognized entity.