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Acute Motor Axonal Neuropathy Coexisting With Ankylosing Spondylitis: A Case-Based Review. 急性运动轴突神经病并发强直性脊柱炎:一项基于病例的回顾。
IF 0.9
Case Reports in Immunology Pub Date : 2026-05-28 eCollection Date: 2026-01-01 DOI: 10.1155/crii/5406702
Yiğit Can Güldiken, Batool Achmar, Sema Kaymaz Tahra
{"title":"Acute Motor Axonal Neuropathy Coexisting With Ankylosing Spondylitis: A Case-Based Review.","authors":"Yiğit Can Güldiken, Batool Achmar, Sema Kaymaz Tahra","doi":"10.1155/crii/5406702","DOIUrl":"10.1155/crii/5406702","url":null,"abstract":"<p><p>Guillain-Barré syndrome (GBS) is a rare autoimmune disorder characterized by peripheral nerve involvement. Among the many kinds of GBS, acute motor axonal neuropathy (AMAN) syndrome has been shown to have distinct clinical characteristics and consequences. Meanwhile, ankylosing spondylitis (AS) is a long-term inflammatory joint illness that mostly affects the sacroiliac joints and the spine; this disorder has been known to cause discomfort and stiffness, which may lead to decreased flexibility over time. Some studies have found a link between anti-TNF α medication and GBS. GBS was commonly related to anti-TNF-α treatment for established AS, which explains the rare overlap of both diseases. In our case, nevertheless, both conditions occurred together without any confirmed therapeutic or infectious provocation. We describe a case of a 35-year-old painter hospitalized with paralysis of the lower and upper limbs but normal reflexes. Electromyography (EMG) demonstrated axonal motor neuropathy, and a lumbar puncture revealed high protein levels (42.2 mg/dL) and a normal cell count, all of which are indicators of GBS; hence, he was diagnosed with AMAN. Additional testing revealed human leukocyte antigen (HLA)-B27 positive and bilateral sacroiliitis on magnetic resonance imaging (MRI), which is consistent with AS. The administration of plasma exchange (PLEX) treatment improved the bulbar function.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"5406702"},"PeriodicalIF":0.9,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13216763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148139234","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}
引用次数: 0
Homozygous C1qA Deficiency Presenting as Early-Onset Systemic Lupus Erythematosus: A Case Report With a Literature Review. 纯合子C1qA缺乏表现为早发性系统性红斑狼疮:1例报告并文献复习。
IF 0.9
Case Reports in Immunology Pub Date : 2026-05-14 eCollection Date: 2026-01-01 DOI: 10.1155/crii/4667037
Hadi Mottaghipisheh, Andisheh Mosaffa Jahromi, Fatemeh Mirzaei, Seppo Meri, Kurosh Kalantar
{"title":"Homozygous C1qA Deficiency Presenting as Early-Onset Systemic Lupus Erythematosus: A Case Report With a Literature Review.","authors":"Hadi Mottaghipisheh, Andisheh Mosaffa Jahromi, Fatemeh Mirzaei, Seppo Meri, Kurosh Kalantar","doi":"10.1155/crii/4667037","DOIUrl":"10.1155/crii/4667037","url":null,"abstract":"<p><strong>Background: </strong>Childhood-onset systemic lupus erythematosus (cSLE) can be particularly severe when associated with inborn errors of immunity. Hereditary C1q deficiency is an exceptionally rare complement disorder that confers a very high risk of early, aggressive lupus. Reporting this case highlights the need to consider complement deficiencies in young children presenting with lupus-like features and recurrent infections and illustrates the diagnostic value of integrating immunologic and genetic testing.</p><p><strong>Case presentation: </strong>A 3-year-old girl presented with recurrent infections, a photosensitive rash, and persistent leukopenia, raising clinical suspicion for an underlying complement deficiency in the context of cSLE. Laboratory evaluation showed strongly positive antinuclear antibody (ANA) and anti-SSA antibodies, with normal C3 and C4 levels but markedly reduced CH50. Lymphocyte subset analysis by flow cytometry was unremarkable. Western blot analysis and whole-exome sequencing identified a homozygous nonsense variant in C1qA (c.622C > <i>T</i>; p.Gln208 <sup>∗</sup>), confirming complete hereditary C1q deficiency. Despite treatment with corticosteroids and hydroxychloroquine, the patient's disease activity remained suboptimal, leading to consideration of hematopoietic stem cell transplantation as a definitive therapeutic option.</p><p><strong>Conclusions: </strong>This case emphasizes the importance of early recognition and systematic evaluation of complement deficiencies in pediatric patients with lupus manifestations and recurrent infections. Identifying hereditary C1q deficiency has crucial implications for diagnosis, prognosis, and timely selection of advanced therapies, including hematopoietic stem cell transplantation, in severe forms of cSLE.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"4667037"},"PeriodicalIF":0.9,"publicationDate":"2026-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13173544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147964451","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}
引用次数: 0
Can Genetic Predisposition Play a Role in Anti-Glutamic Acid Decarboxylase (GAD) Autoimmunity? A Rare Presentation in Three Siblings. 遗传易感性在抗谷氨酸脱羧酶(GAD)自身免疫中起作用吗?三个兄弟姐妹的罕见表现。
IF 0.9
Case Reports in Immunology Pub Date : 2026-04-25 eCollection Date: 2026-01-01 DOI: 10.1155/crii/6581645
Ammar Alobaidy, Mulham Alsulaimi, Ameer Alajmi
{"title":"Can Genetic Predisposition Play a Role in Anti-Glutamic Acid Decarboxylase (GAD) Autoimmunity? A Rare Presentation in Three Siblings.","authors":"Ammar Alobaidy, Mulham Alsulaimi, Ameer Alajmi","doi":"10.1155/crii/6581645","DOIUrl":"10.1155/crii/6581645","url":null,"abstract":"<p><p>Anti-glutamic acid decarboxylase (anti-GAD) autoimmunity possess a poorly understood diversity in the development of neurological manifestations with or without diabetes mellitus (DM) association. A possible genetic contribution might further expand the complexity of anti-GAD pathogenesis and demand further exploration and research. We report three siblings in the same family (two sisters and one brother) who were tested positive for anti-GAD antibodies (anti-GAD-Abs) and presented with different clinical disorders, associated with DM in one of them. Although scarce data are available in the literature concerning the influence of possible genetic predisposition on the development of anti-GAD autoimmunity, yet there is cumulative evidence to support this association which is further elucidated in this report. Whether to recommend family screening tests for patients with positive anti-GAD autoimmunity is still undetermined and further studies are required to solve the unanswered queries pertinent to this potentially treatable autoimmune disorder.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"6581645"},"PeriodicalIF":0.9,"publicationDate":"2026-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13110270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784598","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}
引用次数: 0
Managing Alpha-Gal Allergy in a Case of Bioprosthetic TAVR. 1例生物假体TAVR的α -半乳糖过敏处理。
IF 0.9
Case Reports in Immunology Pub Date : 2026-04-24 eCollection Date: 2026-01-01 DOI: 10.1155/crii/8190714
Ruchi Patel, Aarav Patel, Ruchi Biswas, Benjamin Hsieh, Dhanasekaran Ramasamy, Chirag Patel
{"title":"Managing Alpha-Gal Allergy in a Case of Bioprosthetic TAVR.","authors":"Ruchi Patel, Aarav Patel, Ruchi Biswas, Benjamin Hsieh, Dhanasekaran Ramasamy, Chirag Patel","doi":"10.1155/crii/8190714","DOIUrl":"10.1155/crii/8190714","url":null,"abstract":"<p><p>Alpha-gal syndrome (AGS) is an uncommon IgE-mediated allergy to mammalian-derived products, caused by sensitization to the oligosaccharide galactose-α-1,3-galactose (alpha-gal) after tick exposure. Although AGS is best recognized for delayed anaphylaxis following ingestion of red meat, its implications for exposure to mammalian-derived biomaterials remain poorly characterized. We present an elderly woman with AGS who required transcatheter aortic valve replacement (TAVR) using a bovine bioprosthesis. An 84-year-old woman with serologically confirmed AGS following a Lone Star tick bite in 2012 presented with symptomatic severe aortic stenosis. Her clinical history included multiple allergic reactions to beef, persistently elevated IgE to beef, pork, and lamb, and a specific alpha-gal IgE >100 kU/L. Following a multidisciplinary evaluation, she was not considered a candidate for a mechanical valve. A prophylactic regimen was implemented, including cetirizine, omalizumab, and 60 mg prednisone 6 h prior to TAVR. The procedure was successfully performed with a bovine-derived bioprosthetic valve. Perioperative tryptase levels remained within normal range (5.2 µg/L), and no hypersensitivity reactions occurred. Postoperatively, prednisone was tapered, while fexofenadine and omalizumab were continued for 6 months. This case highlights that bioprosthetic valve replacement can be safely performed in AGS patients through multidisciplinary planning and individualized prophylaxis strategies. Further data are needed to develop standardized perioperative management protocols for this rare but clinically significant condition.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"8190714"},"PeriodicalIF":0.9,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13109619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784630","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}
引用次数: 0
Adult Onset of Acute Disseminated Encephalomyelitis (ADEM) With Associated Myelin Oligodendrocyte Glycoprotein (MOG) Antibody. 急性播散性脑脊髓炎(ADEM)成人发病伴髓鞘少突胶质细胞糖蛋白(MOG)抗体
IF 0.9
Case Reports in Immunology Pub Date : 2026-04-18 eCollection Date: 2026-01-01 DOI: 10.1155/crii/8603136
Daniel Wilmot, Kaylee Sorrells, Sydnee Guthrie, Sapna Vyas, Mackenzie Lupov
{"title":"Adult Onset of Acute Disseminated Encephalomyelitis (ADEM) With Associated Myelin Oligodendrocyte Glycoprotein (MOG) Antibody.","authors":"Daniel Wilmot, Kaylee Sorrells, Sydnee Guthrie, Sapna Vyas, Mackenzie Lupov","doi":"10.1155/crii/8603136","DOIUrl":"10.1155/crii/8603136","url":null,"abstract":"<p><p>ADEM is an inflammatory and demyelinating autoimmune disorder of the central nervous system (CNS). One recognized cause of ADEM is myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). MOGAD affects approximately one in 10,000 people worldwide and is more prevalent in children. Patients typically present with optic neuritis, ADEM, and transverse myelitis. Many patients will experience relapses of demyelinating attacks, and thus, both acute and maintenance therapies are typically used to manage the disease. This case considers an adult female who presented with neurological deficits as a result of MOG-associated ADEM. She had minimal response to traditional therapies but responded well to treatment with IV immunoglobulin (IVIG). This case report explores her clinical course as well as unique clinical significance and conclusions due to the nontraditional use of IVIG.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"8603136"},"PeriodicalIF":0.9,"publicationDate":"2026-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13091007/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147724318","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}
引用次数: 0
False Elevation of Parathyroid Hormone in a Patient With Lung Metastasis of Rectal Cancer After Immunotherapy: A Case Report and Literature Review. 免疫治疗后直肠癌肺转移患者甲状旁腺激素假升高一例报告并文献复习。
IF 0.9
Case Reports in Immunology Pub Date : 2026-03-09 eCollection Date: 2026-01-01 DOI: 10.1155/crii/8400162
Chang-Sheng Xia, Lingli Zhou, Chendi Jing, Chunhong Fan, Yejiao Hong, Zhi-Hong Yue, Leili Gao, Fang Ren
{"title":"False Elevation of Parathyroid Hormone in a Patient With Lung Metastasis of Rectal Cancer After Immunotherapy: A Case Report and Literature Review.","authors":"Chang-Sheng Xia, Lingli Zhou, Chendi Jing, Chunhong Fan, Yejiao Hong, Zhi-Hong Yue, Leili Gao, Fang Ren","doi":"10.1155/crii/8400162","DOIUrl":"10.1155/crii/8400162","url":null,"abstract":"<p><strong>Background: </strong>Immunoassays are commonly used in clinical laboratories to measure a variety of analytes, including hormones and tumor markers. Interference caused by rheumatoid factor (RF), heterophile antibodies, and human anti-animal antibodies (HAAA) has been reported but is rarely identified in daily practice. Here, we report a case of falsely elevated parathyroid hormone (PTH) due to immunoassay interference and review the literature.</p><p><strong>Case presentation: </strong>A 57-year-old man who recovered well from lung metastasis of rectal cancer treated with bevacizumab and sintilimab for 1 year, presented to Peking University People's Hospital with persistently high PTH levels (>1200 ng/L) measured by a Roche Elecsys assay. He had hypoadrenocorticism induced by anti-programmed cell death 1 (PD-1), normal renal function, normal total calcium level, and normal 25-OH vitamin D concentration. The Beckman Coulter UniCel DxI 800 and Siemens Immulite 2000 platforms measured PTH levels of 18.3 ng/L and 8.7 ng/L, respectively. After the patient's serum was treated with polyethylene glycol (PEG) precipitation or mouse serum, the PTH levels determined by the Roche immunoassay decreased to 56.5 ng/L and 265.3 ng/L, respectively.</p><p><strong>Conclusion: </strong>Interference due to human anti-mouse antibodies (HAMA) could be the cause of falsely elevated PTH in the patient. Physicians should realize that immunoassay interference can lead to false results and closely communicate with the laboratory to avoid misdiagnosis and inappropriate therapies.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"8400162"},"PeriodicalIF":0.9,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12968431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147436050","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}
引用次数: 0
Severe COVID-19 Unveils Atypical Familial Hemophagocytic Lymphohistiocytosis due to a Novel Homozygous PRF1 Variant. 严重的COVID-19揭示了由一种新的纯合子PRF1变异引起的非典型家族性噬血细胞淋巴组织细胞病
IF 0.9
Case Reports in Immunology Pub Date : 2026-02-10 eCollection Date: 2026-01-01 DOI: 10.1155/crii/3879317
Nasimeh Vatandoost, Mohsen Jari, Mansour Salehi
{"title":"Severe COVID-19 Unveils Atypical Familial Hemophagocytic Lymphohistiocytosis due to a Novel Homozygous <i>PRF1</i> Variant.","authors":"Nasimeh Vatandoost, Mohsen Jari, Mansour Salehi","doi":"10.1155/crii/3879317","DOIUrl":"10.1155/crii/3879317","url":null,"abstract":"<p><p>We report a novel homozygous <i>PRF1</i> variant, <i>PRF1</i> (NM_001083116.3):c.343G > A (p.Glu115Lys), identified by whole-exome sequencing (WES) in an 11-year-old girl with atypical familial hemophagocytic lymphohistiocytosis (FHL). The variant, inherited from asymptomatic heterozygous parents, was absent or extremely rare in population databases and was predicted to be deleterious by multiple in silico tools. Born to consanguineous parents, the patient presented with recurrent fever, pancytopenia, and multiorgan failure following SARS-CoV-2 infection, further complicated by Epstein-Barr virus (EBV) and cytomegalovirus (CMV) coinfections. Despite intensive immunosuppressive therapy, she developed seizures, an intracranial hemorrhage, and died at age 11. A striking family history of unexplained febrile deaths in infancy and childhood strongly supported autosomal recessive inheritance. It emphasizes the role of viral triggers, especially COVID-19, in revealing genetic predispositions and underscores the importance of genetic screening in atypical cases.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"3879317"},"PeriodicalIF":0.9,"publicationDate":"2026-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12887974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146167003","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}
引用次数: 0
Neonatal-Onset Chronic Granulomatous Disease Presenting With Recurrent Culture-Negative Meningitis: A Case Report and Diagnostic Considerations. 以反复培养阴性脑膜炎为表现的新生儿慢性肉芽肿性疾病:1例报告及诊断考虑。
IF 0.9
Case Reports in Immunology Pub Date : 2026-01-07 eCollection Date: 2026-01-01 DOI: 10.1155/crii/1817159
Anwar Abu Hetta, Rayyan G Shakarnah, Khalil R Salah, Jasem Y Hroub, Abdallah N Khatib, Amjad H Rabei
{"title":"Neonatal-Onset Chronic Granulomatous Disease Presenting With Recurrent Culture-Negative Meningitis: A Case Report and Diagnostic Considerations.","authors":"Anwar Abu Hetta, Rayyan G Shakarnah, Khalil R Salah, Jasem Y Hroub, Abdallah N Khatib, Amjad H Rabei","doi":"10.1155/crii/1817159","DOIUrl":"10.1155/crii/1817159","url":null,"abstract":"<p><p>Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocyte oxidative burst and may present in early life with severe or recurrent infections. We report a female infant born at 38 weeks' gestation (birth weight 2700 g) who developed fever and presumed sepsis at 5 days of life, followed by multiple recurrent hospitalizations for febrile illness with suspected meningitis, diarrhea, dehydration, and failure to thrive. Cerebrospinal fluid (CSF) evaluations across episodes demonstrated pleocytosis with elevated protein and normal-to-low glucose, while Gram stain and CSF cultures were repeatedly negative, consistent with recurrent culture-negative meningitis. Laboratory assessment showed intermittent anemia, thrombocytosis, and episodes of significant neutropenia. Complement and immunoglobulin levels were within reference ranges, and flow cytometry demonstrated preserved T- and B-lymphocyte compartments. A flow cytometric dihydrorhodamine (DHR) oxidative burst assay was markedly abnormal (phorbol 12-myristate 13-acetate stimulation index 13%; <i>Escherichia coli</i> stimulation index 22.3%), supporting the diagnosis of CGD. At ~4.5 months of age, a sterile catheter urine culture grew multidrug-resistant <i>Klebsiella pneumoniae</i> at ≥100,000 CFU/mL with susceptibility limited to aminoglycosides; the patient was treated with amikacin 15 mg/kg/dose intravenously once daily for 10 days, with defervescence within 48 h, clinical recovery, and a repeat urine culture showing no growth. Genetic testing was not performed due to financial and social constraints, and longer-term outcomes beyond early infancy were unavailable in the record extract. This case underscores that recurrent culture-negative meningitis in early infancy should prompt evaluation for primary immunodeficiency and that early DHR testing can expedite CGD diagnosis and guide timely preventive management and specialist referral.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"1817159"},"PeriodicalIF":0.9,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12776254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145935162","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}
引用次数: 0
Cogan's Syndrome: Complex Diagnostics, Treatment, and Results of Hearing Rehabilitation in Long-Term Follow-Up-Case Series. 科根综合征:长期随访病例系列中听力康复的复杂诊断、治疗和结果。
IF 0.9
Case Reports in Immunology Pub Date : 2025-12-22 eCollection Date: 2025-01-01 DOI: 10.1155/crii/8559583
Nóra Kecskeméti, Beáta Bencsik, Ágnes Szirmai, László Tamás, Marianna Küstel, András Grimm, Zsuzsanna Géhl, Hunor Sükösd, Péter Magyar, Anita Gáborján
{"title":"Cogan's Syndrome: Complex Diagnostics, Treatment, and Results of Hearing Rehabilitation in Long-Term Follow-Up-Case Series.","authors":"Nóra Kecskeméti, Beáta Bencsik, Ágnes Szirmai, László Tamás, Marianna Küstel, András Grimm, Zsuzsanna Géhl, Hunor Sükösd, Péter Magyar, Anita Gáborján","doi":"10.1155/crii/8559583","DOIUrl":"10.1155/crii/8559583","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to present the diagnostic and therapeutic challenges of Cogan's syndrome (CS) and the outcomes of hearing rehabilitation in long-term follow-up.</p><p><strong>Methods: </strong>Retrospective data analyses of patients with CS treated at Semmelweis University were performed. Comprehensive evaluations, including medical assessments, audiological measurements, otoneurological investigations, imaging, and ophthalmological examinations, were conducted on all patients.</p><p><strong>Results: </strong>Between 1995 and 2022, five patients with CS were followed. The severity and timing of ear and ocular symptoms varied. Bilateral, asymmetric hearing impairment manifested as sudden sensorineural hearing loss, and all patients experienced loss of bilateral vestibular function. Various ophthalmological manifestations showed instability over time. Systemic corticosteroids were the first-line treatment, immunosuppressive therapy (methotrexate, cyclophosphamide, cyclosporin A), and biological treatment (infliximab, adalimumab) used as second- and third-line therapies. Eye symptoms of all five patients were controlled by medications. For hearing impairment, four patients were treated with cochlear implantation and achieved long-term stable speech perception. Hearing improvement was found in one patient by conservative therapy. One patient required reimplantation due to device failure, which was performed without complications.</p><p><strong>Conclusion: </strong>Sudden hearing loss and vestibular attacks in young patients require thorough investigation and close follow-up. Early corticosteroid therapy or immunosuppressive and biological treatment can stabilize symptoms, including hearing levels. Early hearing rehabilitation with cochlear implants is crucial. Long-term follow-up indicates stable hearing levels and speech perception.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2025 ","pages":"8559583"},"PeriodicalIF":0.9,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12747111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145865795","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}
引用次数: 0
Gastroparesis-An Often-Overlooked Sign of Multiple Sclerosis: Case Report. 胃轻瘫-多发性硬化症的一个经常被忽视的迹象:病例报告。
IF 1.5
Case Reports in Immunology Pub Date : 2025-11-26 eCollection Date: 2025-01-01 DOI: 10.1155/crii/1789381
Breveenn Kukan, Kaylee Brown, Minh Chung, Steven Veselsky, Joshua Ferrell
{"title":"Gastroparesis-An Often-Overlooked Sign of Multiple Sclerosis: Case Report.","authors":"Breveenn Kukan, Kaylee Brown, Minh Chung, Steven Veselsky, Joshua Ferrell","doi":"10.1155/crii/1789381","DOIUrl":"10.1155/crii/1789381","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is a chronic autoimmune disease and demyelinating disorder of the central nervous system (CNS) with diverse clinical presentations that can make the diagnosis challenging. In this case report, we describe a rare initial presentation of MS, mistaken for Type 1 diabetes mellitus (T1DM) impaired gastric motility. The patient is a 32-year-old female with a history significant for T1DM who presented with 3 days of intractable vertigo, nystagmus, and gait disturbance. She was discharged 2 days prior for intractable nausea and vomiting presumed to be due to impaired gastric motility called gastroparesis. There was no prior history of focal neurologic deficits. Her family history revealed extensive autoimmune diseases in multiple first-degree relatives. Physical examination suggested a peripheral lesion but could not rule out a central lesion. Magnetic resonance imaging (MRI) brain demonstrated white matter lesions in regions specific for MS. The patient experienced modest improvement with IV corticosteroids. Patients with T1DM have a threefold increase in the incidence of MS. While gastroparesis is an uncommon initial symptom of MS, this diagnosis should be considered, particularly when neurological deficits are present. This case underscores the importance of considering the enteric nervous system in patients with preexisting autoimmune conditions with new-onset neurological symptoms.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2025 ","pages":"1789381"},"PeriodicalIF":1.5,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12674857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145679135","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}
引用次数: 0
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