Case Reports in Neurological Medicine最新文献

{"title":"Mixed Movement Disorder Caused by <i>ADCY5</i> Pathogenic Variant Successfully Treated With Caffeine: A Case From Ukraine.","authors":"Eugenia Tsoma, Taras Studeniak, Robert Jech, Michael Zech, Petra Havrankova, Evžen Růžička, Lukas Kunc, Yuriy Chomolyak","doi":"10.1155/crnm/4661314","DOIUrl":"10.1155/crnm/4661314","url":null,"abstract":"<p><strong>Background: </strong>Mixed movement disorder due to pathogenic variants in the <i>ADCY5</i> gene (MxMD-<i>ADCY5</i>) is a rare condition characterized predominantly by paroxysmal involuntary choreiform movements involving the limbs, face, and neck, often accompanied by dystonia and myoclonus. Speech disturbances, delayed motor development, cognitive impairment, axial hypotonia, and episodic exacerbations of dyskinesia are also common features. Currently, treatment strategies remain limited; however, several studies indicate a beneficial effect of caffeine in the management of dyskinesia.</p><p><strong>Objective: </strong>This clinical report aims to present a case of MxMD-<i>ADCY5</i> showing a high therapeutic response to caffeine. To our knowledge, this is the first reported Ukrainian patient with this condition demonstrating dramatic improvement in paroxysmal dyskinesia after treatment with high-dose caffeine.</p><p><strong>Conclusions: </strong>In our clinical observation, administration of caffeine at a total daily dose of 600 mg resulted in significant clinical improvement in an adult patient with MxMD<i>-ADCY5</i> over a follow-up period of at least 6 months. No adverse events or side effects were reported.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"4661314"},"PeriodicalIF":0.7,"publicationDate":"2026-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12964310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147375959","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 Case of Dropped Head Syndrome Improving in the Early Postoperative Period After Surgery for a Partially Thrombosed Vertebral Artery Aneurysm.","authors":"Shinnosuke Hashida, Tomoya Kamide, Sho Takata, Daisuke Wajima, Kouichi Misaki, Mitsutoshi Nakada","doi":"10.1155/crnm/1390710","DOIUrl":"10.1155/crnm/1390710","url":null,"abstract":"<p><strong>Introduction: </strong>Dropped head syndrome (DHS) is associated with various diseases and syndromes, and its cause is sometimes difficult to identify. Partially thrombosed or thrombosed aneurysms can cause neurological symptoms owing to the mass effect and the compression of the surrounding structures. However, no DHS cases due to the mass effect of thrombosed aneurysms have been reported. Herein, we report a case of DHS, which improved after surgery for a partially thrombosed vertebral artery (VA) aneurysm.</p><p><strong>Case presentation: </strong>A female patient in her fifties, with a medical history of subarachnoid hemorrhage and consistent partial paralysis of the left leg, experienced a gradual downward shift of gaze while walking. She was diagnosed with suspected DHS, and a large partially thrombosed aneurysm of the left VA was incidentally detected. The disorder in the right lower extremity worsened rapidly, and a mass effect of the aneurysm was suspected. Within 2 days postoperatively, she was able to walk independently. In the early postoperative period (postoperative day 2), cervical extensor weakness improved, allowing maintenance of a horizontal gaze.</p><p><strong>Discussion: </strong>This is the first report describing an association between DHS and a large partially thrombosed VA aneurysm. DHS improved in the early postoperative period following surgery. Although the exact mechanism remains unclear, this case suggests that factors beyond immediate radiographic decompression may be involved.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"1390710"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12951001/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147347649","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":"Familial Occurrence of Anti-NF155 Autoimmune Nodopathy in Father and Son: Expanding the Spectrum of IgG4-Related Nodopathies.","authors":"Roopa Sharma, Ahmed Sabra, Erin Feinstein, Machteld E Hillen","doi":"10.1155/crnm/1397400","DOIUrl":"10.1155/crnm/1397400","url":null,"abstract":"<p><p>We report the first documented familial occurrence of Anti-Neurofascin-155 (Anti-NF155) autoimmune nodopathy in both a father and his son. Anti-NF155 nodopathy can resemble chronic inflammatory demyelinating polyneuropathy (CIDP) but differs in its poor response to standard CIDP treatments such as intravenous immunoglobulin (IVIG) and steroids, instead requiring B-cell-depleting therapies. A previously healthy 34-year-old male presented with a five-to-six week history of subacute sensory ataxia, symmetric proximal and distal weakness, and areflexia, preceded by right-sided Bell's palsy. Cerebrospinal fluid (CSF) analysis demonstrated albumin-cytologic dissociation with a markedly elevated protein level of 485 mg/dL, and nerve conduction studies confirmed a demyelinating polyneuropathy. Despite treatment with IVIG and corticosteroids, he showed minimal improvement, and subsequent detection of Anti-NF155 antibodies in serum established the diagnosis. He improved significantly with rituximab therapy and was able to walk unassisted at 1-year follow-up. Notably, his 13-year-old son presented with a similar clinical syndrome at the age of 8, characterized by progressive bilateral weakness, sensory ataxia, tremor, elevated CSF protein of 201 mg/dL, diffuse nerve root enhancement on MRI, and demyelinating polyneuropathy on electrophysiologic studies. He was initially treated as CIDP but failed to respond to IVIG and steroids, later testing positive for Anti-NF155 antibodies, and has since achieved sustained improvement on rituximab maintenance every six months. This report emphasizes the possibility of genetic predisposition in the pathogenesis of Anti-NF155 nodopathy and underscores the need for further investigation into familial and environmental factors contributing to disease susceptibility.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"1397400"},"PeriodicalIF":0.7,"publicationDate":"2026-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12929025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147302401","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":"Peculiar Clinical Manifestation in a Child With Self-Limited Epilepsy With Autonomic Seizures (SeLEAS) Presenting in an All-Four Position: A Case Report.","authors":"Niranjana Kesavamoorthy, Savitra Bandari","doi":"10.1155/crnm/6382812","DOIUrl":"10.1155/crnm/6382812","url":null,"abstract":"<p><p>Self-limited epilepsy with autonomic seizures (SeLEAS), previously known as Panayiotopoulos syndrome, presents with focal autonomic seizures in early childhood and is a self-limited epilepsy syndrome. Previous articles have described the various manifestations of this syndrome, which are predominantly autonomic symptoms. In this article, we describe a child with an unusual initial presentation of SeLEAS. She was found resting on her elbows on all fours, a symptom that has not been previously reported and is different from the usually reported clinical presentations. This case underscores the importance of recognizing diverse clinical manifestations of SeLEAS to avoid misdiagnosis so that timely, appropriate management can be initiated.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"6382812"},"PeriodicalIF":0.7,"publicationDate":"2026-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12907507/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146212314","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":"Cerebral Edema Secondary to Heavy Metal Toxicity From Siddha Medicine: A Case Report and Case-Based Review.","authors":"Zhibin Tan, Bernard Ji Guang Chua, Mingwei Ng, Sophia Reyes, Stella Setiawan, You Jiang Tan, Boon Kiat Kenneth Tan, Ponampalam R","doi":"10.1155/crnm/9945172","DOIUrl":"10.1155/crnm/9945172","url":null,"abstract":"<p><strong>Background: </strong>Traditional Indian medicine has been used to treat a variety of illnesses for centuries. However, there are existing concerns surrounding its heavy metal content. Amongst the different systems of traditional Indian medicine, Ayurvedic medicine has been most frequently implicated in heavy metal toxicity, while Siddha medicine has only very rarely been reported in association with lead and mercury poisoning.</p><p><strong>Case presentation: </strong>A 58-year-old woman presented twice with severe headache, vomiting, dysphasia, truncal ataxia, and tremors. In the second presentation, she also had a clinical seizure. Both times, brain imaging showed diffuse gyral edema, but blood and cerebrospinal fluid tests were unyielding for any explanatory biochemical or serological causes. Both times, the patient displayed clinical and radiologic improvement during her inpatient stay, without any definitive treatment instituted. Eventually, a history of daily Siddha medicine usage for 3 months prior to presentation, as well as in the intervening period between both admissions, was elicited. Blood tests showed high lead levels beyond the assay's limit for accurate quantification. Pharmaceutical analysis of her Siddha medicine capsules revealed contents of arsenic, mercury, and lead at levels that were several thousand times the safe limits. She was treated with oral dimercaptosuccinic acid with significant improvement in symptoms.</p><p><strong>Conclusion: </strong>We presented an unusual case of generalized cerebral edema caused by multiple metal toxicity from Siddha medicine use. Our case illustrates that Siddha medicine can cause a mixed toxidrome with toxicities from multiple metals at once. Our patient's highly unusual presenting syndrome, including diffuse cerebral edema on brain imaging and triphasic waves on electroencephalogram, will hopefully be informative for physicians faced with similar cases in future.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"9945172"},"PeriodicalIF":0.7,"publicationDate":"2026-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12902456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146200217","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":"Botulinum Toxin A in Poststroke Oromandibular Dystonia: Case Reports.","authors":"Elena Brevi, Davide Villa, Davide Dalla Costa, Luciana Sciumé, Andrea Cattelan, Dante Facchetti, Giovanna Beretta, Maria Sessa","doi":"10.1155/crnm/6373183","DOIUrl":"10.1155/crnm/6373183","url":null,"abstract":"<p><strong>Background: </strong>Poststroke oromandibular dystonia (OMD) is a rare and challenging to treat form of dystonia. Botulinum toxin A (BoNT-A) is a standard treatment in other etiologies of OMD, but literature concerning a long-term potential beneficial role in posthemorrhagic stroke OMD is scarce.</p><p><strong>Cases: </strong>We present a case series of three patients with acute onset of multiple cranial nerve impairment and contralateral hemiparesis consequent to pontine hemorrhage. After a few months, all patients developed jaw-closing OMD (JC-OMD), conditioning a reduced mouth opening. Ultrasound-guided BoNT-A administration was started, and after 4 weeks, every patient showed clinical improvement. The results were maintained up to 10 years of follow-up, and no adverse event was reported.</p><p><strong>Conclusions: </strong>Poststroke OMD is an underestimated condition. Our cases provided data of safety and efficacy of BoNT-A treatment up to 10 years of follow-up. Further studies are warranted to establish etiopathological mechanisms and standardized treatments for poststroke JC-OMD.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"6373183"},"PeriodicalIF":0.7,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12884568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146156226","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 Case of Restless Arm Syndrome and the Effective Use of Gabapentin.","authors":"Jasmine Lim Shimin","doi":"10.1155/crnm/1198600","DOIUrl":"10.1155/crnm/1198600","url":null,"abstract":"<p><p>Restless arm syndrome (RAS) is an uncommon neurological condition that is characterized by an irresistible urge to move the upper limbs, often worse at rest and transiently relieved by movement. RAS is an upper limb variant of restless legs syndrome (RLS), a more common neurological condition, also known as Willis-Ekbom disease. In view of its atypical presentation, RAS is often underdiagnosed. RAS is reported to share the same risk factors as RLS with its prevalence increasing with age, in the presence of certain conditions, and associated with the use of medications like antipsychotics and antidepressants. A case of possible RAS is described here in a patient who had experienced a few years of RLS-like symptoms and had been on various antidepressants for his depression. His symptoms markedly improved with a trial of gabapentin, which subsequently raised the possibility of RAS as a diagnosis. Clinicians should consider RAS as a differential in patients who experience symptoms suggestive of RLS in the presence of associated risk factors.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"1198600"},"PeriodicalIF":0.7,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12865494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146118072","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":"Peripheral Facial Nerve Palsy due to Spontaneous Internal Carotid Artery Dissection.","authors":"Benjamin Dejakum, Michael Knoflach, Stefan Kiechl, Lukas Mayer-Suess","doi":"10.1155/crnm/7669261","DOIUrl":"10.1155/crnm/7669261","url":null,"abstract":"<p><p>A man in his 50s experienced novel, continuous, and progressive headache and neck pain prior to the onset of left-sided peripheral facial nerve palsy. Sequential palsies of left lower Cranial Nerves IX and XII followed. Imaging showed spontaneous cervical artery dissection (sCeAD) of the ipsilateral internal carotid artery. Lower cranial nerve palsies in sCeAD are a frequent result of a local mass effect exerted by the formation of a mural hematoma. The only close topographical relationship between the facial nerve and the internal carotid artery is within the petrous part of the temporal bone but still separated in two different bony canals (facial canal and carotid canal). Thus, a mural hematoma of an internal carotid artery dissection could not cause compression of the facial nerve. In the rare case of facial nerve palsy due to sCeAD, hypoperfusion of the vasa nervorum is the most likely cause. As sCeAD is one of the main reasons for stroke in the youth, it is critical to know and identify potential red flags in patients with peripheral facial nerve palsy, which should lead to additional vascular imaging.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"7669261"},"PeriodicalIF":0.7,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12859160/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146104114","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":"Double Anti-NMO and Anti-MOG Positivity in a Patient With Metastatic Renal Carcinoma: First Reported Case.","authors":"M Fortanet García, A Belenguer Benavides, S Blanco Madera, H Benetó Andrés, A Monclus Beclua, A Recio Gimeno, L Popova","doi":"10.1155/crnm/6191174","DOIUrl":"10.1155/crnm/6191174","url":null,"abstract":"<p><strong>Background: </strong>Neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein-associated disease (MOGAD) are central nervous system (CNS) demyelinating disorders characterized by autoantibodies targeting aquaporin-4 (AQP4) and MOG, respectively. Although dual positivity for AQP4-IgG and MOG-IgG antibodies is uncommon, it poses significant diagnostic and therapeutic challenges due to its complex clinical features and uncertain prognosis.</p><p><strong>Case presentation: </strong>We present the first reported case in the literature of a patient with metastatic renal carcinoma who tested positive for both AQP4 and MOG antibodies. A 49-year-old man with a history of metastatic renal carcinoma experienced progressive neurological symptoms, initially attributed to tumor progression. However, after further investigation, including lumbar puncture and autoantibody testing, a demyelinating process with dual seropositivity for AQP4-IgG and MOG-IgG was identified.</p><p><strong>Treatment and outcomes: </strong>The patient was treated with high-dose corticosteroids, followed by rituximab, resulting in clinical and radiological stability.</p><p><strong>Conclusion: </strong>This case highlights the rare occurrence of dual seropositivity for AQP4 and MOG antibodies in a patient with a history of metastatic renal carcinoma, which poses diagnostic and treatment challenges. Although the pathogenesis remains unclear, factors such as genetic predisposition and autoimmune coactivation may contribute to triggering this autoimmune response. This case emphasizes the importance of personalized treatment and the need for further research to optimize management strategies for patients with this complex condition.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"6191174"},"PeriodicalIF":0.7,"publicationDate":"2026-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12835620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146092255","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":"Stridor in Bilateral Medial Medullary Infarction: A Case Report, Literature Review, and Pathophysiologic Insights Into a Rare Presentation of an Uncommon Stroke.","authors":"Marvic Joseph S Amoranto, Ramon Carlos Miguel L Alemany, Norman N Mendoza","doi":"10.1155/crnm/5348210","DOIUrl":"10.1155/crnm/5348210","url":null,"abstract":"<p><strong>Background: </strong>Upper airway obstruction secondary to bilateral vocal cord paralysis is not a known classic presentation of bilateral medial medullary infarction (BMMI). This may potentially confound the diagnostic approach, particularly when coexisting with bulbar symptoms and quadriplegia. Prompt recognition is essential for timely and appropriate airway management and subsequent treatment.</p><p><strong>Case presentation: </strong>A 74-year-old female presented with a three-week stepwise progression of asymmetric quadriparesis, slurred speech, and a prominent biphasic stridor. Flexible fiberoptic laryngoscopy revealed bilateral vocal cord palsy in the median-paramedian position, and an emergency tracheostomy was performed. Magnetic resonance imaging (MRI) of the brain revealed the characteristic \"heart shaped\" diffusion-weighted imaging (DWI) pattern of BMMI, while magnetic resonance angiography (MRA) exhibited absent flow-related signals in the right vertebral artery. Secondary stroke prevention with clopidogrel was started. However, the patient developed severe pneumonia with massive pleural effusion and expired on the sixth day of hospitalization due to Type 1 respiratory failure.</p><p><strong>Conclusion: </strong>Bilateral vocal cord paralysis may occur in BMMI, and recognizing this rare association is crucial for timely diagnosis and treatment. The intricate neurovascular anatomy of the medulla may find insight into the rarity of this association.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"5348210"},"PeriodicalIF":0.7,"publicationDate":"2026-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12794263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145964706","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}