Case Reports in Neurology最新文献

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Erratum. 勘误表。
IF 0.6
Case Reports in Neurology Pub Date : 2026-04-27 eCollection Date: 2026-01-01 DOI: 10.1159/000551371
{"title":"Erratum.","authors":"","doi":"10.1159/000551371","DOIUrl":"https://doi.org/10.1159/000551371","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1159/000549534.].</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"192"},"PeriodicalIF":0.6,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13120790/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763509","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
Erratum. 勘误表。
IF 0.6
Case Reports in Neurology Pub Date : 2026-04-10 eCollection Date: 2026-01-01 DOI: 10.1159/000551267
{"title":"Erratum.","authors":"","doi":"10.1159/000551267","DOIUrl":"https://doi.org/10.1159/000551267","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1159/000549746.].</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"162"},"PeriodicalIF":0.6,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13068384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147670484","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
Nitrous Oxide-Induced Subacute Degeneration of the Spinal Cord Requiring Spinal Rehabilitation: A Case Report. 氧化亚氮诱导的需要脊髓康复的亚急性脊髓变性:一例报告。
IF 0.6
Case Reports in Neurology Pub Date : 2026-03-02 eCollection Date: 2026-01-01 DOI: 10.1159/000551320
Leon Smith, Ali Tayahori
{"title":"Nitrous Oxide-Induced Subacute Degeneration of the Spinal Cord Requiring Spinal Rehabilitation: A Case Report.","authors":"Leon Smith, Ali Tayahori","doi":"10.1159/000551320","DOIUrl":"https://doi.org/10.1159/000551320","url":null,"abstract":"<p><strong>Background: </strong>Nitrous oxide is a widely available anaesthetic agent whose chronic use causes irreversible inactivation of vitamin B12, leading to subacute combined degeneration (SACD) of the spinal cord. While high-dose intramuscular B12 replacement often halts disease progression, complete neurological recovery is not always achieved.</p><p><strong>Case presentation: </strong>A 19-year-old Chinese male with a 3-month history of nitrous oxide use presented to the emergency department with acute lower-limb weakness and encephalopathy. Examination revealed mild upper-limb paresis, diminished deep tendon reflexes, and minimal voluntary movement in the legs. Laboratory studies showed pancytopenia, undetectable serum vitamin B12, and markedly elevated homocysteine. MRI of the brain and spine demonstrated generalised cerebral atrophy with white-matter foci and extensive hyperintensity throughout the upper spinal cord. Complications included bilateral pulmonary emboli and lower-limb deep venous thrombosis, managed initially with intravenous heparin followed by enoxaparin and a 6-month course of apixaban. The patient received high-dose intramuscular B12, oral methionine, thiamine, and supportive care for skin lesions. After a period of intense multidisciplinary rehabilitation, functional independence was restored, although not complete neurological recovery.</p><p><strong>Conclusion: </strong>This case illustrates that nitrous oxide-induced SACD can present with profound neurological dysfunction but responds favourably to prompt vitamin B12 replacement, combined with multidisciplinary rehabilitation.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"177-183"},"PeriodicalIF":0.6,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13095196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763471","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
Anticoagulation versus Antiplatelet Therapy in COVID-19-Related Stroke: Navigating Clinical Dilemmas in a Critically Ill Cirrhotic Patient - A Case Report. 抗凝与抗血小板治疗在covid -19相关卒中中的应用:在重症肝硬化患者中导航临床困境-一个病例报告
IF 0.6
Case Reports in Neurology Pub Date : 2026-02-26 eCollection Date: 2026-01-01 DOI: 10.1159/000551122
Bo-Ying Huang, Kuan-Hung Lin, Kuan-Hsien Lu, Wen-Wen Tsai
{"title":"Anticoagulation versus Antiplatelet Therapy in COVID-19-Related Stroke: Navigating Clinical Dilemmas in a Critically Ill Cirrhotic Patient - A Case Report.","authors":"Bo-Ying Huang, Kuan-Hung Lin, Kuan-Hsien Lu, Wen-Wen Tsai","doi":"10.1159/000551122","DOIUrl":"https://doi.org/10.1159/000551122","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this was to illustrate the treatment dilemma when coronavirus disease 2019 (COVID-19)-related thromboinflammatory stroke occurs in a patient with cirrhosis and to highlight a mechanism-guided framework for choosing between antiplatelet and anticoagulant therapy.</p><p><strong>Case presentation: </strong>A 75-year-old man with alcoholic cirrhosis and esophageal varices was hospitalized for severe COVID-19 pneumonia. Because his D-dimer exceeded 3,000 ng/mL, prophylactic low-molecular-weight heparin (LMWH) was started. On day 4, he developed an acute right middle cerebral artery M2 occlusion (Alberta Stroke Program Early CT Score, ASPECTS 4); reperfusion therapy was contraindicated. A multidisciplinary team opted to continue LMWH and withhold antiplatelet agents, reasoning that thromboinflammation - not atherosclerosis - was the likely mechanism and that variceal bleeding risk was high. Acute kidney injury emerged on day 6, but careful monitoring showed neither hemorrhage nor stroke progression. The patient later died from respiratory failure unrelated to the stroke.</p><p><strong>Conclusion: </strong>In COVID-19 stroke with cirrhosis, guideline antiplatelet therapy may not fit the underlying biology. Treatment should be mechanism-guided, biomarker-informed, and adjusted to individual bleeding risk.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"170-176"},"PeriodicalIF":0.6,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13095198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763457","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
Postoperative Shoulder Splint-Induced Palm Pressure Leading to Median and Ulnar Neuropathies: A Case Report. 术后肩夹板诱导掌压导致中尺神经病变1例。
IF 0.6
Case Reports in Neurology Pub Date : 2026-02-23 eCollection Date: 2026-01-01 DOI: 10.1159/000550605
Emily Lysher, Amber Rose Vocelle, Ian Ackers, Cheryl Craig, Shelby Crawford, Michael Thomas Andary, Geoffrey Seidel
{"title":"Postoperative Shoulder Splint-Induced Palm Pressure Leading to Median and Ulnar Neuropathies: A Case Report.","authors":"Emily Lysher, Amber Rose Vocelle, Ian Ackers, Cheryl Craig, Shelby Crawford, Michael Thomas Andary, Geoffrey Seidel","doi":"10.1159/000550605","DOIUrl":"10.1159/000550605","url":null,"abstract":"<p><strong>Introduction: </strong>Postoperative positioning devices, such as shoulder splints, are commonly used to support and stabilize the upper limb following surgery. However, improper placement and prolonged pressure from these devices can lead to iatrogenic nerve injuries.</p><p><strong>Case presentation: </strong>We present a case of severe axonal injury to the median and ulnar nerves at the proximal hand in a patient following shoulder surgery. This was attributed to palm pressure from a postoperative shoulder splint with a built-in palm stress ball designed to improve circulation and healing, along with impaired pain sensation from use of a pain pump. Electrodiagnostic (EDX) exam of the right upper extremity 1 year prior was normal. Postoperative EDX exam showed a decreased amplitude of right ulnar sensory amplitudes, decreased motor amplitudes of ulnar and median responses across the wrist, and associated evidence of axon damage on electromyography. These findings indicate that median and ulnar nerves at the proximal hand were affected.</p><p><strong>Conclusion: </strong>We hypothesize that the nerve injuries were due to prolonged pressure in the hand from strict compliance with the splint, the palmar stress ball, and impaired sensation due to a periprocedural nerve block and postoperative pain pump. This case highlights the importance of optimizing postoperative positioning to prevent complications. It is imperative that patients are provided education regarding proper orthotic positioning, pressure relief, and the importance of frequent skin checks when prescribing a shoulder orthotic with a palm stress ball to reduce the risk of nerve injury.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"154-161"},"PeriodicalIF":0.6,"publicationDate":"2026-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13021232/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147572367","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
Traumatic C6-C7 Fracture-Dislocation with Surgical Correction of Anterior Hardware Fusion Failure and Neglected Locked Facet: A Case Report and Literature Review. 外伤性C6-C7骨折脱位伴手术矫正前路硬体融合失败及忽视锁定小关节:1例报告及文献复习。
IF 0.6
Case Reports in Neurology Pub Date : 2026-02-23 eCollection Date: 2026-01-01 DOI: 10.1159/000550932
Pedro Luiz Ribeiro Carvalho de Gouvea, Pedro Henrique da Costa Ferreira-Pinto, Domênica Baroni Coelho de Oliveira Ferreira, Camila de Oliveira Ribeiro, Armando Yoshimitsu Hamada, Leonardo Antunes Miguez, César Batista Gonçalves da Cruz, Eduardo Mendes Correa, George da Silva Divério Junior, Flávio Nigri
{"title":"Traumatic C6-C7 Fracture-Dislocation with Surgical Correction of Anterior Hardware Fusion Failure and Neglected Locked Facet: A Case Report and Literature Review.","authors":"Pedro Luiz Ribeiro Carvalho de Gouvea, Pedro Henrique da Costa Ferreira-Pinto, Domênica Baroni Coelho de Oliveira Ferreira, Camila de Oliveira Ribeiro, Armando Yoshimitsu Hamada, Leonardo Antunes Miguez, César Batista Gonçalves da Cruz, Eduardo Mendes Correa, George da Silva Divério Junior, Flávio Nigri","doi":"10.1159/000550932","DOIUrl":"https://doi.org/10.1159/000550932","url":null,"abstract":"<p><strong>Background: </strong>The cervical spine represents the most common site of spinal trauma, typically associated with vertebrae dislocation with locked facets. Accurate assessment of the entire spine is essential to prevent diagnostic and therapeutic failures. Here, we present a case of a patient with C6-C7 dislocation who underwent two unsuccessful surgical procedures, highlighting the technical challenges associated with revision surgery and persistent facet locking.</p><p><strong>Case description: </strong>A 26-year-old male arrived at an emergency hospital after a motorcycle accident with paraplegia, C6 roots strength grade 2, and C7, C8, and T1 paralysis. The cervical computed tomography scan revealed C6-C7 dislocation, left C7-T1 locked facet, and right C6-C7 facet subluxation. After two unsuccessful surgical procedures, a combined 540-degree posterior-anterior-posterior (P-A-P) approach was performed. After the combined P-A-P cervical spine approach, the patient remained paraplegic, with no further neurological deterioration during follow-up.</p><p><strong>Conclusion: </strong>Early diagnosis and management of locked facets is crucial to avoid unstable constructions and subsequently hardware failure in patients with cervical spinal trauma.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"163-169"},"PeriodicalIF":0.6,"publicationDate":"2026-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13068387/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147670498","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
Basilar Artery Dissection Diagnosed Using Fluid-Attenuated Inversion Recovery and Managed with Stepwise Antithrombotic Therapy: A Case Report. 用液体衰减反转恢复诊断基底动脉夹层并采用逐步抗血栓治疗:1例报告。
IF 0.6
Case Reports in Neurology Pub Date : 2026-02-19 eCollection Date: 2026-01-01 DOI: 10.1159/000550934
Monami Dai, Taro Yanagawa, Tatsuki Kimura, Shunsuke Ikeda, Shinichiro Yoshikawa, Tsuyoshi Uesugi, Toshiki Ikeda
{"title":"Basilar Artery Dissection Diagnosed Using Fluid-Attenuated Inversion Recovery and Managed with Stepwise Antithrombotic Therapy: A Case Report.","authors":"Monami Dai, Taro Yanagawa, Tatsuki Kimura, Shunsuke Ikeda, Shinichiro Yoshikawa, Tsuyoshi Uesugi, Toshiki Ikeda","doi":"10.1159/000550934","DOIUrl":"https://doi.org/10.1159/000550934","url":null,"abstract":"<p><strong>Introduction: </strong>Basilar artery dissection (BAD) is a rare cause of brainstem infarction, presenting with nonspecific symptoms and subtle radiographic findings, resulting in diagnostic delays. In this case, we aimed to highlight the value of fluid-attenuated inversion recovery (FLAIR) imaging in the early detection of BAD and evaluate the safety of a stepwise conservative treatment strategy.</p><p><strong>Case presentation: </strong>We report a case of a middle-aged man with an acute brainstem infarction caused by isolated BAD. Initial magnetic resonance imaging revealed diffusion restriction in the pons and linear hyperintensity along the basilar artery on FLAIR imaging. Computed tomography angiogram revealed irregularity of the basilar artery lumen without aneurysmal dilation, which was then confirmed via digital subtraction angiography. The patient was managed conservatively with initial heparinization followed by cilostazol. Results of serial imaging showed no morphological progression, and the patient gradually improved, with only mild residual deficits.</p><p><strong>Conclusion: </strong>This case highlights the diagnostic value of FLAIR imaging in the early detection of BAD and supports the safety and potential efficacy of a stepwise antithrombotic strategy - initial anticoagulation with heparin followed by antiplatelet therapy with cilostazol - in the absence of hemorrhagic risk.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"184-191"},"PeriodicalIF":0.6,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13095197/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763482","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
The Overlap of Migraine and Transient Global Amnesia: A Case Report and Literature Review on the Concept of "Migramnesia". 偏头痛与短暂性全局性遗忘的重叠:一例病例报告及关于“偏头痛”概念的文献综述。
IF 0.6
Case Reports in Neurology Pub Date : 2026-02-09 eCollection Date: 2026-01-01 DOI: 10.1159/000550438
Kaveh Bahrami, Jamshid Tabeshpour, Fereydun Moradi
{"title":"The Overlap of Migraine and Transient Global Amnesia: A Case Report and Literature Review on the Concept of \"Migramnesia\".","authors":"Kaveh Bahrami, Jamshid Tabeshpour, Fereydun Moradi","doi":"10.1159/000550438","DOIUrl":"https://doi.org/10.1159/000550438","url":null,"abstract":"<p><strong>Introduction: </strong>The pathophysiological relationship between migraine and transient global amnesia (TGA) remains unclear. We present a case of TGA occurring temporally with a migraine attack and review the existing literature on this potential association, sometimes termed \"migramnesia.\"</p><p><strong>Case presentation: </strong>A 58-year-old man with a history of episodic migraine with aura experienced a severe typical migraine headache. Approximately 3 h after onset, he awoke with profound anterograde and retrograde amnesia lasting 3 h, meeting clinical criteria for TGA. He had no recollection of the amnestic episode or the preceding headache. Brain MRI was unremarkable.</p><p><strong>Conclusion: </strong>This case adds to the limited number of reports describing a temporal link between migraine and TGA events. A review of the literature reveals conflicting evidence regarding migraine as a risk factor for TGA recurrence. While our case and some studies suggest a plausible association, the evidence is inconsistent. This case highlights the need for further research, including rigorous prospective studies and analyses of potential migraine-related subgroups within TGA populations, to clarify any underlying pathophysiological connections.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"134-138"},"PeriodicalIF":0.6,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12971068/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147430532","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
Usefulness of Early Treatment with Efgartigimod in Patients with Generalized Myasthenia Gravis Complicated by Cardiovascular Disease: A Case Report. 艾夫加替莫德早期治疗广泛性重症肌无力合并心血管疾病1例
IF 0.6
Case Reports in Neurology Pub Date : 2026-02-09 eCollection Date: 2026-01-01 DOI: 10.1159/000550908
Rie Kawakita, Kazushi Deguchi
{"title":"Usefulness of Early Treatment with Efgartigimod in Patients with Generalized Myasthenia Gravis Complicated by Cardiovascular Disease: A Case Report.","authors":"Rie Kawakita, Kazushi Deguchi","doi":"10.1159/000550908","DOIUrl":"10.1159/000550908","url":null,"abstract":"<p><strong>Background: </strong>Generalized myasthenia gravis (gMG) is an autoimmune disease associated with several autoantibodies that attack neuromuscular junctions. Parenteral fast-acting treatment (FT) using steroid pulses, intravenous immunoglobulin (IVIg) and/or plasmapheresis is beneficial for the initial treatment of gMG. However, some patients with gMG have concomitant cardiovascular diseases, such as cardiac insufficiency and ischemic heart disease, in real-world clinical practice. Thus, conventional FT is sometimes difficult to administer in these patients because of its potential cardiovascular side effects.</p><p><strong>Case presentation: </strong>We report a case of a patient with gMG complicated by cardiovascular disease who was successfully treated with a new therapy using the neonatal Fc receptor inhibitor efgartigimod instead of conventional early FT with steroid pulses, IVIg, and/or plasmapheresis.</p><p><strong>Conclusion: </strong>Efgartigimod may represent a feasible alternative to conventional FT for the management of gMG, particularly in patients with significant cardiovascular comorbidities.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"146-153"},"PeriodicalIF":0.6,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13008404/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147509917","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
A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report. 一个15个月大的猪相关GPI生物合成障碍患儿出现失神癫痫的新表型:一个病例报告。
IF 0.6
Case Reports in Neurology Pub Date : 2026-01-30 eCollection Date: 2026-01-01 DOI: 10.1159/000550598
Shan Lateef, Amy Feldman Lewanda, Julia Weston, Sarah Bade, Jacklyn Lessard
{"title":"A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.","authors":"Shan Lateef, Amy Feldman Lewanda, Julia Weston, Sarah Bade, Jacklyn Lessard","doi":"10.1159/000550598","DOIUrl":"https://doi.org/10.1159/000550598","url":null,"abstract":"<p><strong>Introduction: </strong>PIGK-related glycosylphosphatidylinositol (GPI) biosynthesis disorder is an extremely rare neurodevelopmental condition, with only 12 cases described to date. It is caused by biallelic mutations in the <i>PIGK</i> gene, which encodes a catalytic subunit of the GPI transamidase complex. This enzyme facilitates the attachment of GPI anchors to proteins crucial for cellular signaling and development. Eight of the 12 described cases were reported to have seizures, but the electroclinical characteristics are not well defined.</p><p><strong>Case presentation: </strong>We report a 15-month-old female who presented with global developmental delay, hypotonia, oral dysphagia, nystagmus, and cerebellar atrophy on MRI. Abnormal movements occurred at 10 months of age with intermittent, brief right arm tremors initially presumed to be benign myoclonus of infancy. However, subsequent 24-h video EEG revealed classic 3-Hz generalized spike-and-wave discharges with clinical correlates of behavioral arrest previously unrecognized, confirming a diagnosis of absence seizures - a feature not previously reported in the literature for PIGK-related disorders. Whole exome sequencing confirmed biallelic <i>PIGK</i> pathogenic variants. To our knowledge, this is the first reported case of typical absence seizures with 3-Hz generalized spike-and-wave discharges in a very young patient with confirmed <i>PIGK</i> mutation. Our report expands the known electroclinical phenotype of GPI-anchor deficiencies, suggesting the need to screen for subtle generalized epilepsy syndromes like absence, among affected infants.</p><p><strong>Conclusion: </strong>This case highlights a novel EEG phenotype in PIGK-related GPI biosynthesis disorder underscoring the relevance of early EEG evaluation in infants with this extremely uncommon neurogenetic disorder.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"139-145"},"PeriodicalIF":0.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12987671/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147466908","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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