European journal of case reports in internal medicine最新文献

{"title":"Adult-Onset Levodopa-Unresponsive Parkinsonism as the Presenting Feature of Aromatic L-Amino Acid Decarboxylase Deficiency.","authors":"Matthew Spiteri, Russel Tilney, Edith Said, Malcolm Vella","doi":"10.12890/2026_007317","DOIUrl":"10.12890/2026_007317","url":null,"abstract":"<p><strong>Introduction: </strong>Aromatic L-amino acid decarboxylase is a critical enzyme required for the final step in the synthesis of dopamine and serotonin, two important neurotransmitters. Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive disorder of neurotransmitter biosynthesis caused by pathogenic variants in the dopa decarboxylase (<i>DDC</i>) gene. An absence or decrease of dopamine and serotonin levels may lead to severe motor and neurodevelopmental impairments. It classically presents within the first 6 months of life with a triad of hypotonia, oculogyric crises and developmental delay. Adult-onset presentations are extremely rare and underreported.</p><p><strong>Case description: </strong>We report the case of a 53-year-old man who presented with progressive left-sided bradykinesia, stiffness, rigidity and resting tremor over a year and a half. Examination demonstrated asymmetrical parkinsonism including facial hypomimia, cogwheel rigidity and a reduced arm swing on the left. A trial of levodopa of up to 1000 mg levodopa equivalent daily dose did not improve his condition. Magnetic resonance imaging of the brain was reported as normal without radiological signs of atypical parkinsonian neurodegenerative disorders. An autoimmune and onconeural antibody panel was negative. The patient's symptoms progressively deteriorated and he noted dysphagia requiring a tailored feeding plan Dopamine transporter single-photon emission computed tomography was performed demonstrating a marked reduction of nigrostriatal synaptic integrity at the right putamen and modest reduction at the left putamen. Targeted genetic testing identified a homozygous missense variant [NM_000790.3: c.710T>C p. (Phe237Ser)] in the <i>DDC</i> gene, establishing the diagnosis of AADC deficiency. Levodopa was substituted with a direct dopamine agonist (ropinirole) which resulted in a modest clinical improvement; however, dose escalation was limited by nausea. The patient subsequently developed neuropsychiatric symptoms which were managed with mirtazapine and sodium valproate.</p><p><strong>Conclusion: </strong>This case expands the recognised phenotypic spectrum of AADC deficiency and highlights the importance of considering neurotransmitter biosynthesis defects in levodopa-unresponsive adult parkinsonism.</p><p><strong>Learning points: </strong>Aromatic L-amino acid decarboxylase (AADC) deficiency, classically an infantile-onset neurometabolic disorder, can present in adulthood as a levodopa-unresponsive parkinsonian syndrome and should be considered in adults with otherwise unexplained atypical parkinsonism.In cases of lack of response to adequate doses of levodopa in an apparent Parkinson's disease phenotype, consideration of a neuroreceptor biosynthesis defect should be made and direct dopamine agonists such as ropinirole can be trailed, as they bypass this metabolic block, and may produce clinical improvement.Unremarkable magnetic reso","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 10","pages":"007317"},"PeriodicalIF":0.0,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13666585/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149192211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Celiac Disease as A Gastrointestinal Manifestation in A Patient with <i>CARMIL2</i> Deficiency: Report and Review of Current Literature.","authors":"Ahmed T AlHawamedeh, Nasser F AlSunbul, Muhammed F Mubarak","doi":"10.12890/2026_007371","DOIUrl":"10.12890/2026_007371","url":null,"abstract":"<p><p><i>CARMIL2</i> deficiency is a rarely occurring, autosomal recessive immunodeficiency disease, manifested as an impairment in CD28-mediated T-cell costimulation, actin cytoskeleton dysregulation and a broad immunological disturbance across T, B and NK cell lineages. It has been strongly associated with an early onset of inflammatory bowel disease-like enteropathies, recurrent infections, dermatitis and eczema. While gastrointestinal involvement is well documented, celiac disease has not yet been reported in this context. We present a case of a 23-year-old Saudi male with genetically confirmed <i>CARMIL2</i> deficiency who developed true celiac disease demonstrated through a comprehensive gastrointestinal evaluation, with an extensive diagnostic workup that included upper endoscopy with duodenal biopsies, histopathological examination and celiac serologies (tTG IgA, tTG IgG and DGP IgA/IgG).</p><p><strong>Learning points: </strong>Monogenic inflammatory bowel diseases have been extensively documented in association with diverse primary immunodeficiencies, but celiac disease has rarely been described in this context.This is a novel case of a young adult with a confirmed <i>CARMIL2</i> deficiency diagnosis who developed true celiac disease established by serology, duodenal biopsy and a response to a gluten-free diet.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 10","pages":"007371"},"PeriodicalIF":0.0,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13666564/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149192252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary Pleural Epithelioid Angiosarcoma Presenting with Recurrent Haemorrhagic Pleural Effusions.","authors":"Eleanor Dorman, Shubhada Bansode, Rizwan Kaiser","doi":"10.12890/2026_007360","DOIUrl":"10.12890/2026_007360","url":null,"abstract":"<p><strong>Introduction: </strong>Primary pleural angiosarcoma is an extremely rare malignancy of the pleura arising from the vascular endothelial cells. The disease is highly aggressive and associated with a poor prognosis. Clinical and imaging features are non-specific often leading to delays in diagnosis.</p><p><strong>Case description: </strong>We report a case of primary pleural epithelioid angiosarcoma in a 66-year-old man presenting with a 2-month history of progressive dyspnoea, anorexia and significant weight-loss. Chest imaging revealed a large pleural effusion which was haemorrhagic on sampling. Multiple haemorrhagic nodules on parietal pleura were biopsied at medical thoracoscopy. Tumour morphology and immunocytochemical analysis with positive staining for endothelial markers CD31 and ERG supported the diagnosis of pleural epithelioid angiosarcoma. He was treated with palliative chemotherapy with some initial response but developed rapid disease progression after 6 months resulting in his death.</p><p><strong>Conclusion: </strong>Pleural angiosarcoma causes diagnostic uncertainty due to its rarity, non-specific presentation and inconclusive cytology. Histopathology and immunohistochemistry are crucial for prompt diagnosis of this aggressive disease.</p><p><strong>Learning points: </strong>Primary pleural angiosarcoma is an incredibly rare disease.In the context of haemorrhagic effusions with non-diagnostic cytology, early consideration of thoracoscopic visually targeted pleural biopsy is important to improve diagnostic yield.Clinical presentation, imaging and cytology is often non-specific in these cases; histopathology and immunohistochemistry are crucial for diagnosis in primary pleural angiosarcoma.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 9","pages":"007360"},"PeriodicalIF":0.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13561144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148929451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Envenomation-Induced Hemophagocytic Lymphohistiocytosis (HLH): First Reported Adult Case Following A Spider Bite.","authors":"Justin Baik, Faizan Khajar, Neil Hughes, Muhammad Usman","doi":"10.12890/2026_007013","DOIUrl":"10.12890/2026_007013","url":null,"abstract":"<p><strong>Introduction: </strong>Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome driven by dysregulated activation of cytotoxic T lymphocytes and macrophages. While infections and malignancies represent the most frequently identified triggers, HLH precipitated by arthropod envenomation is exceptionally rare, with prior reports confined predominantly to paediatric populations.</p><p><strong>Case description: </strong>A 65-year-old male with multiple comorbidities developed progressive fever, cytopenias, extreme hyperferritinaemia (>8,000 ng/ml), and multiorgan dysfunction following a suspected spider bite to the inner left thigh. Evaluation revealed markedly elevated soluble interleukin-2 receptor (sCD25 >4,000 pg/ml) and CXCL9 (35,623 pg/ml; 55-fold above the upper limit of normal), along with reduced natural killer (NK) cell counts. Bone marrow biopsy confirmed haemophagocytosis. The patient fulfilled 6 of 8 HLH-2004 diagnostic criteria, with an HScore of approximately 197, corresponding to a >90-95% probability of HLH. Treatment with high-dose corticosteroids, ruxolitinib, and anakinra resulted in rapid suppression of inflammatory markers. The course was complicated by acute kidney injury requiring temporary haemodialysis. By early 2026, the patient achieved normalization of all laboratory parameters and returned to near-baseline functional status.</p><p><strong>Conclusion: </strong>This case illustrates an exceptionally rare adult presentation of envenomation-associated secondary HLH. Clinicians should consider HLH in patients with persistent fever, cytopenias, and extreme hyperferritinaemia following arthropod exposure. Early immunomodulatory therapy, including cytokine-directed agents such as ruxolitinib and anakinra, may avert irreversible organ damage in the absence of cytotoxic etoposide-based therapy.</p><p><strong>Learning points: </strong>First documented adult case of spider bite-associated HLH, expanding awareness of a rare but fatal presentation.Guides internists to consider HLH when fever, cytopenias, and extreme hyperferritinaemia persist after envenomation.Emphasizes that early immunomodulatory therapy can prevent irreversible organ damage.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 9","pages":"007013"},"PeriodicalIF":0.0,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13561131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148929464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare Cause of Acute Dysphagia: Listeria Rhombencephalitis.","authors":"Hirannya Karunadasa, Robbie Chan, Ronan O'Connor, Alexander Hodge","doi":"10.12890/2026_006814","DOIUrl":"10.12890/2026_006814","url":null,"abstract":"<p><strong>Background: </strong>Acute dysphagia is a common presentation to hospital and requires a structured diagnostic approach to distinguish between oropharyngeal and oesophageal causes. Although oesophageal pathology is often suspected, central neurological causes must be considered, particularly in atypical presentations. <i>Listeria monocytogenes</i> is a rare but important cause of central nervous system infection, including rhombencephalitis, which may present with progressive cranial neuropathies and bulbar dysfunction, including acute dysphagia. Early diagnosis is challenging but critical, as delayed recognition is associated with significant morbidity and mortality.</p><p><strong>Case report: </strong>A 37-year-old male presented with acute onset dysphagia and an inability to manage oral secretions following a short prodrome of fever and gastrointestinal symptoms. Initial evaluation suggested oesophageal obstruction; however, urgent endoscopy was unremarkable. His condition deteriorated with aspiration pneumonitis and persistent dysphagia. In the presence of reduced lingual sensation and impaired gag reflex, neuroimaging and lumbar puncture were performed, confirming Listeria rhombencephalitis. Despite targeted antimicrobial therapy, he developed multiple cranial nerve deficits and required a tracheostomy for airway protection. With prolonged intravenous antibiotics and multidisciplinary care, he demonstrated gradual neurological recovery and was discharged for ongoing rehabilitation.</p><p><strong>Conclusion: </strong>This case highlights the importance of a systematic diagnostic framework in acute dysphagia and maintaining a high index of suspicion for alternative causes to avoid diagnostic anchoring. Early recognition of oropharyngeal features and neurological signs should prompt timely neuroimaging and lumbar puncture. Central causes including Listeria rhombencephalitis should be considered early, as prompt targeted therapy is essential to improve outcomes.</p><p><strong>Learning points: </strong>Acute dysphagia requires a structured and careful diagnostic approach to differentiate between oropharyngeal and oesophageal dysphagia.Investigation of acute dysphagia should occur in parallel across differential diagnoses, with a high index of suspicion maintained in atypical presentations.Listeria rhombencephalitis should be considered in immunocompetent patients with suggestive clinical signs and symptoms.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 9","pages":"006814"},"PeriodicalIF":0.0,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13561134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148944281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vexas Syndrome: A Multisystem Challenge with Sweet Syndrome and Myelodysplastic Syndrome.","authors":"Ayla Kouli, Miriam Laflouf, Mahmoud Alhamadeh Alswij, Ammar Awad, Ahmad Al-Bitar, Mais Musleh, Heba Jumah","doi":"10.12890/2026_007318","DOIUrl":"10.12890/2026_007318","url":null,"abstract":"<p><strong>Introduction: </strong>VEXAS (vacuoles, E1 enzyme, x-linked, autoinflammatory, somatic) syndrome, is a recently described autoinflammatory condition caused by <i>UBA1</i> gene mutations. It can present with both sweet syndrome (SS) and myelodysplastic syndrome (MDS). SS, or acute febrile neutrophilic dermatosis, is an inflammatory disorder characterised by fever, neutrophilia and painful erythematous plaques. MDS is a clonal haematopoietic stem cell disorder.</p><p><strong>Case description: </strong>We present a case of a 43-year-old Arab male with a history of MDS. He presented with painful, non-pruritic, non-haemorrhagic skin lesions. The patient also reported having fever and chills, partially relieved by antipyretics. Bone marrow aspiration was done and revealed a 'dry tap' which was inadequate for evaluation. Immunophenotyping of bone marrow biopsy was consistent with MDS. A skin biopsy of the lesions was performed and confirmed sweet syndrome. The patient was treated with methylprednisolone 500 mg daily for five days, with a significant improvement in clinical symptoms. After stabilisation, treatment for MDS was started with 200 mg IV azacitidine daily for seven days.</p><p><strong>Conclusion: </strong>Given the patient's age, gender, MDS diagnosis and atypical presentation of sweet syndrome, VEXAS syndrome is a strong possibility. Further investigation, including genetic testing for a <i>UBA1</i> mutation, is warranted. A diagnosis of VEXAS syndrome would significantly impact long-term management and prognosis, as it was determined to be important in reducing the recurrence rate of sweet syndrome.</p><p><strong>Learning points: </strong>Features such as steroid-dependent skin lesions, cytopenias and MDS raise suspicion for VEXAS syndrome - a systemic autoinflammatory disorder linked to <i>UBA1</i> mutations and clonal haematopoiesis. Despite lacking genetic confirmation, the patient responded to high-dose steroids and azacitidine, underscoring the need for <i>UBA1</i> testing to guide management and prognosis in overlapping MDS-inflammatory syndromes.Sweet syndrome is not always just cutaneous; when it clusters with MDS and systemic inflammation, VEXAS becomes an important diagnostic consideration.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 9","pages":"007318"},"PeriodicalIF":0.0,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13561127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148944539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Defying An Ominous Sign: Complete Neurological Recovery after Bilateral Fixed Dilated Pupils in Hypercapnic Respiratory Failure.","authors":"Sody A Naimer","doi":"10.12890/2026_006904","DOIUrl":"10.12890/2026_006904","url":null,"abstract":"<p><strong>Introduction: </strong>Bilateral fixed dilated pupils (BFDP) have traditionally been regarded as an ominous sign indicating severe brainstem dysfunction and poor neurological prognosis, often prompting discussions regarding withdrawal of life-sustaining treatment. However, pupillary abnormalities can also result from reversible metabolic derangements, including severe hypercapnia, profound acidosis, and hypoxia. Current guidelines emphasize that pupillary assessment should occur after correction of confounding factors such as hypoxemia, hypotension, and metabolic disturbances.</p><p><strong>Case report: </strong>A 66-year-old man with a history of ischemic stroke six months prior presented with prolonged generalized seizures, vomiting, and progressive loss of consciousness. On arrival to the Emergency Department, he was unconscious with bilaterally dilated, unreactive pupils. Venous blood gas analysis revealed severe respiratory acidosis with pH 6.96 and pCO₂ 102 mmHg. Despite intubation and mechanical ventilation, he developed profound desaturation followed by cardiac arrest with ventricular tachycardia requiring cardioversion. A brain computed tomography scan showed no new intracranial pathology. Chest radiography demonstrated massive bilateral aspiration pneumonia. Following aggressive resuscitation, mechanical ventilation, broad-spectrum antibiotics, and supportive care, his respiratory parameters and acidosis gradually improved. As his respiratory status normalized, his pupils became constricted and reactive to light. The patient was successfully weaned from mechanical ventilation and regained full consciousness with complete restoration of cognitive function.</p><p><strong>Conclusion: </strong>Bilateral fixed dilated pupils in severe hypercapnic respiratory failure may be a transient and fully reversible phenomenon when driven by metabolic derangements rather than structural brain injury. Timely resuscitation and deferral of definitive prognosis until confounding metabolic factors have been corrected is essential to avoid premature withdrawal of life-sustaining treatment.</p><p><strong>Learning points: </strong>Bilateral fixed dilated pupils in severe hypercapnic respiratory failure may reflect reversible metabolic dysfunction rather than irreversible brainstem injury.Correction of hypercapnia, hypoxia, and acidosis before formulating a prognosis may prevent premature limitation of care in critically ill patients.For internists, this case highlights the diagnostic risk of relying on a single ominous sign without integrating the full metabolic and respiratory context.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 9","pages":"006904"},"PeriodicalIF":0.0,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13561125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148944352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vaginal Agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome) Presenting with Exertional Dyspnoea, Fatigue and Intermittent Palpitations.","authors":"Priti Dave, Sakshi Sharma, Manasi Nagarkar, Abhishek Saklecha, Atharva Jagtap","doi":"10.12890/2026_007349","DOIUrl":"10.12890/2026_007349","url":null,"abstract":"<p><strong>Introduction: </strong>Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome represents a spectrum of Müllerian duct anomalies. MRKH type I involves isolated agenesis of the uterus and vagina, while MRKH type II involves extra-genital defects most commonly affecting the skeletal, renal, cardiovascular and auditory systems with functional ovaries along with agenesis of the uterus and vagina.</p><p><strong>Case description: </strong>A 19-year-old female presented with exertional dyspnoea, fatigue and intermittent palpitations for the last 2 years. Clinical evaluation revealed a classic machinery murmur at the left second intercostal space, suspecting the diagnosis of patent ductus arteriosus (PDA), which was confirmed by two-dimensional echocardiography. She also presented with primary amenorrhea, for which an ultrasound of the abdomen and pelvis was done, which showed a rudimentary uterus and absence of the upper third of the vagina with normal ovaries. Hence, a diagnosis of MRKH syndrome type II was made. A cardiac computed tomography scan revealed a persistent left superior vena cava (PLSVC), which is a rare association in an MRKH patient. There was also the presence of an extrarenal pelvis seen on a kidney, ureter, bladder (KUB) X-ray.</p><p><strong>Conclusion: </strong>This case highlights the rare association of MRKH syndrome type II with PDA, PLSVC, and the extrarenal pelvis, emphasising the need for comprehensive multisystem evaluation. These patients need effective counselling regarding sexual well-being and appropriate management of extra genital manifestations.</p><p><strong>Learning points: </strong>Mayer-Rokitansky-Küster-Hauser (MRKH) Type II is a multisystem congenital syndrome that requires comprehensive evaluation. A multidisciplinary approach is essential, involving gynaecology, cardiology, nephrology and radiology.Rare cardiovascular anomalies can coexist with MRKH type II, like patent ductus arteriosus and persistent left superior vena cava (PLSVC). PLSVC may be asymptomatic in a patient, but it is important to know because it can make certain procedures more challenging, like pacemaker insertion, intra-cardiac device implantation, left-sided central line placement and cardiac surgeries. A card should be given to these patients in case they need such procedures.An extra-renal pelvis is a benign congenital condition which does not need treatment. Generally, it is asymptomatic, but sometimes it increases the risk of urinary tract infection (UTI) due to slowed urine flow, so such patients should be monitored for UTI and have renal function tests regularly.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 9","pages":"007349"},"PeriodicalIF":0.0,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13561142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148929445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Late-Onset Spinal Implant Infection Due to Streptococcus Salivarius Probably Triggered by A Blood Splash During A Dental Procedure.","authors":"Yazeed Alekrish, Maha Alrabiah, Ali Somily, Faten Almohideb, Mazin Barry","doi":"10.12890/2026_007348","DOIUrl":"10.12890/2026_007348","url":null,"abstract":"<p><strong>Introduction: </strong>Spinal implant infections (SIIs) are a rare but well-known complication of spinal surgery. Early SIIs are usually caused by <i>Staphylococcus aureus</i>, β-haemolytic streptococci, or Gram-negative bacilli. On the other hand, late-onset SIIs are usually caused by coagulase-negative staphylococci or <i>Cutibacterium acnes</i>.</p><p><strong>Case description: </strong>Here, we present a rare case of a late-onset SII in a 24-year-old dentist, caused by oral streptococcal flora <i>(Streptococcus salivarius)</i> that was probably inoculated into his conjunctival mucous membrane by a blood splash during a dental procedure, seven years after spinal fusion. He was initially treated broadly with empiric antibiotics as the organism was not identified, until it was later isolated from an intraoperative tissue culture. After that, he was given targeted antimicrobial therapy along with implant removal.</p><p><strong>Discussion: </strong>The conjunctival mucosa is a well-established route of entry for blood-borne pathogens, particularly viral organisms, in health-care settings.</p><p><strong>Conclusion: </strong>This treatment strategy resulted in significant improvement of his symptoms and general condition.</p><p><strong>Learning points: </strong>In culture-negative or late-onset implant infection, a deliberate occupational and bloodborne-exposure history can reveal a source that cultures do not.Prior antimicrobial exposure markedly lowers culture yield and withholding antibiotics before intra-operative, or aspiration sampling can be decisive.Eye protection is essential for dental and other healthcare workers, as the conjunctiva is a viable portal for bacterial as well as viral transmission.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 9","pages":"007348"},"PeriodicalIF":0.0,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13561138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148944508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pregnancy Complicated by Systemic Lupus Erythematosus, Autoimmune Hepatitis and Portal Hypertension.","authors":"Heghine Khachatryan, Lusine Sahakyan, Sona Petrosyan, Haykanush Khachaturyan, Anahit Stepanyan, Norayr Ghukasyan","doi":"10.12890/2026_007352","DOIUrl":"10.12890/2026_007352","url":null,"abstract":"<p><strong>Introduction: </strong>Pregnancy in women with concurrent systemic lupus erythematosus (SLE), autoimmune hepatitis and portal hypertension is exceptionally rare, with fewer than 10 reported cases of any two conditions together and none describing the full triad with detailed haemostatic assessment.</p><p><strong>Case description: </strong>A 26-year-old woman at 9-10 weeks of gestation presented with abnormal liver enzymes, thrombocytopenia, and later developed subacute cutaneous SLE. Autoimmune evaluation revealed positive anti-double-stranded deoxyribonucleic acid (45 IU/ml), low complement C3 (0.68 g/l), and elevated serum IgG (18.2 g/l) supporting a diagnosis of SLE and probable autoimmune hepatitis. Doppler ultrasound confirmed compensated portal hypertension with splenomegaly. Multidisciplinary management included methylprednisolone, hydroxychloroquine, and low-dose aspirin. The platelet count remained stable (85-105 × 10⁹/l) throughout pregnancy. Second-trimester endoscopy showed grade I varices without red signs. Planned caesarean section was performed at 34-35 weeks after foetal lung maturation, delivering a female neonate weighing 2,270 g with Apgar scores 8/9. Maternal and neonatal outcomes were favourable.</p><p><strong>Conclusion: </strong>Favourable outcomes are achievable despite the concurrent burden of SLE, autoimmune hepatitis (AIH) and portal hypertension in pregnancy. Key points include interpreting thrombocytopenia as a multifactorial sign, balancing bleeding and thrombosis risks, and delivering individualised multidisciplinary care.</p><p><strong>Learning points: </strong>Pregnancy in women with concurrent systemic lupus erythematosus (SLE), autoimmune hepatitis and portal hypertension is rare but can achieve favourable maternal and neonatal outcomes with individualized multidisciplinary care.Thrombocytopenia in this setting is often multifactorial (hypersplenism, immune-mediated, pregnancy-related). A stable platelet count above 50 ×10⁹/l without bleeding may allow expectant management rather than intervention.The bleeding-thrombosis paradox requires balancing prothrombotic tendencies (pregnancy, SLE) against bleeding risks (portal hypertension, varices, and thrombocytopenia). Low-dose aspirin may be used cautiously; low molecular weight heparin is not mandatory in antiphospholipid antibody-negative patients with significant bleeding risk.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 9","pages":"007352"},"PeriodicalIF":0.0,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13561126/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148929396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}