Case Reports in Neurological Medicine最新文献

{"title":"Acute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report.","authors":"Wei Li, Zhi-Yun Lian, Xiu-Juan Mi, Jun Tang","doi":"10.1155/crnm/5596570","DOIUrl":"10.1155/crnm/5596570","url":null,"abstract":"<p><p>Acute intermittent porphyria (AIP) is a rare hereditary metabolic disorder, manifesting in a series of neuropsychiatric symptoms and abdominal pain. Posterior reversible encephalopathy syndrome (PRES) is also an uncommon clinical syndrome characterized by localized cerebral edema in the posterior part of the brain, accompanied by abnormal signal changes in white matter areas. Typically, AIP lacks specific clinical symptoms and cranial imaging features, making the diagnosis difficult. In this case, a young male with AIP presented with intermittent abdominal pain prior to epilepsy. Therefore, the diagnosis of AIP should be considered when epilepsy is associated with PRES.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"5596570"},"PeriodicalIF":0.9,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12575040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145430410","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":"Acyclovir Encephalopathy in HSV Encephalitis Elderly With Normal Renal Function.","authors":"Naoko Makishi, Yasuharu Tokuda","doi":"10.1155/crnm/3854205","DOIUrl":"10.1155/crnm/3854205","url":null,"abstract":"<p><p>Herpes simplex virus (HSV) encephalitis is a disease treated with acyclovir (ACV). However, the neurotoxicity of ACV can lead to the development of ACV encephalopathy. While ACV is used to treat HSV encephalitis, the treatment for ACV encephalopathy is to discontinue the use of ACV. Electroencephalography (EEG) is useful for distinguishing ACV encephalopathy from HSV encephalitis. An 83-year-old male presented with fever and fatigue. He had no decline of renal function. By the fourth day, he experienced tonic-clonic seizures, right-sided conjugate deviation, and loss of consciousness, leading to a diagnosis of HSV encephalitis. He was treated with ACV, which resulted in acute kidney injury (AKI) and loss of consciousness. A diagnosis of ACV encephalopathy with AKI was confirmed by EEG. His treatment continued by vidarabine instead of ACV. His AKI improved after discontinuing ACV and performing plasma exchange, and his level of consciousness fully returned to normal. This case highlights the utility of EEG for distinguishing HSV encephalitis from ACV encephalopathy. We conducted the literature review, and AKI is considered as a risk factor for ACV encephalopathy in elderly patient using ACV or valacyclovir. However, we could not identify a cause for AKI in our case apart from the use of ACV.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"3854205"},"PeriodicalIF":0.9,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12575032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145430461","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":"Cytomegalovirus Infection in a Multiple Sclerosis Patient on Dimethyl Fumarate.","authors":"Nicolai Larsen","doi":"10.1155/crnm/6694528","DOIUrl":"10.1155/crnm/6694528","url":null,"abstract":"<p><strong>Background: </strong>The association between cytomegalovirus (CMV) infection and multiple sclerosis (MS) remains unclear. CMV infection has been reported in MS patients treated with alemtuzumab, rituximab, and ocrelizumab, but its occurrence in patients receiving dimethyl fumarate (DMF) is less studied.</p><p><strong>Objectives: </strong>This case report explores the potential relationship between DMF therapy and CMV infection in a relapsing-remitting MS (RRMS) patient, examining whether DMF-induced immune modulation contributed to CMV reactivation or primary infection.</p><p><strong>Results: </strong>A 29-year-old male with RRMS, on DMF for four years without lymphopenia, developed elevated liver enzymes and splenomegaly. CMV serology showed IgG (60.7 U/L) and IgM (140.0 U/L), with detectable viral DNA (524 IU/mL). Epstein-Barr virus (EBV) IgG was positive, but IgM was negative. Hepatitis A/B, herpes simplex virus (HSV), and varicella tests were negative. DMF was paused for 3 months, and antiviral therapy led to reduced liver enzymes and CMV DNA levels. MS remained stable without new MRI lesions.</p><p><strong>Conclusion: </strong>DMF therapy may contribute to CMV infection despite the patient's normal lymphocyte counts. It may be beneficial with routinely test with viral panel with patients with progression in MS. Further studies are needed to clarify the risk of CMV infection in DMF-treated MS patients.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"6694528"},"PeriodicalIF":0.9,"publicationDate":"2025-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12554918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145387270","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":"Dry Needling of LI4 and TE5 Acupuncture Points on Wrist Flexor Spasticity in Stroke: A Case Report.","authors":"Najmeh Nazari, Noureddin Nakhostin Ansari, Pablo Herrero, Roshanak Honarpisheh, Zahra Mohammadi, Soofia Naghdi","doi":"10.1155/crnm/2219978","DOIUrl":"10.1155/crnm/2219978","url":null,"abstract":"<p><p>Spasticity is one of the most common serious complications after stroke. Dry needling (DN) has been used to improve spasticity and motor function in patients poststroke. This case report aimed to present the DN effects of LI4 and TE5 acupuncture points on wrist flexor spasticity in a patient with stroke. The patient was a 57-year-old man with a 5-year history of right hemiplegia poststroke. DN was applied on LI4 and TE5 for three sessions, every other day, and each point for 1 minute. The patient was assessed before (T0), after 3 sessions of DN (T1), and after first (T2) and sixth weeks (T3) after the last session. After DN, wrist flexor spasticity decreased from \"2\" to \"0\" according to the Modified Modified Ashworth Scale and improvement remained at T2 and T3. The wrist active range of motion (ROM) significantly improved from 0° at T0 to 10° at T1, 45° at T2, and 35° at T3 follow-up. The patient showed improvements in wrist passive ROM from 75° at T0 to 82° at T1, 90° at T2, and 80° at T3. The total motor score of Fugl-Meyer assessment demonstrated small improvements (38 points at T0 to 45 at T2, again 38 at T3). Three sessions of DN at LI4 and TE5 exhibited positive effects on spasticity and wrist ROM in a patient with stroke. Further investigation using the DN technique on acupoints in stroke patients with spasticity is warranted.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"2219978"},"PeriodicalIF":0.9,"publicationDate":"2025-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12553525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145372262","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":"Coexistence of Acute Demyelinating Polyneuropathy and LRP4-Positive Myasthenia Gravis.","authors":"Halit Fidancı, Sevgi Turhan, Halil Can Alaydın, Ahmet Yusuf Ertürk, İlker Öztürk","doi":"10.1155/crnm/2838547","DOIUrl":"10.1155/crnm/2838547","url":null,"abstract":"<p><strong>Introduction: </strong>Guillain-Barré syndrome (GBS) and myasthenia gravis (MG) are rare autoimmune disorders that may share overlapping features such as ophthalmoparesis, limb weakness, and bulbar symptoms, complicating the differential diagnosis. Coexistence of GBS and MG or chronic inflammatory demyelinating polyneuropathy and MG, particularly the low-density lipoprotein receptor-related protein 4 (LRP4) antibody-positive subtypes, is extremely rare. We present such a case to highlight diagnostic challenges.</p><p><strong>Case presentation: </strong>A 46-year-old man presented with distal weakness, sensory loss, facial diplegia, and dyspnea. Nerve conduction studies revealed demyelinating features, and cerebrospinal fluid analysis showed albuminocytologic dissociation. An acute demyelinating polyneuropathy, most likely GBS, was suspected, and clinical improvement was observed following plasmapheresis. Three weeks later, new symptoms including dysarthria and worsening bulbar weakness emerged. Repetitive nerve stimulation showed a decremental response. LRP4 antibodies were positive, confirming MG. The patient improved with intravenous immunoglobulin, corticosteroids, pyridostigmine, and azathioprine.</p><p><strong>Conclusion: </strong>This case underscores the rare coexistence of acute demyelinating polyneuropathy and LRP4-positive MG. In acute demyelinating polyneuropathy patients with relapsing or worsening symptoms, coexisting MG should be considered. Comprehensive electrophysiological evaluation and antibody testing, including LRP4, are essential for the accurate diagnosis of both conditions.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"2838547"},"PeriodicalIF":0.9,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12540012/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145343619","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":"Distinct Imaging Features of Peripheral Nerve Sheath Tumours in <i>NF2</i>-Related Schwannomatosis: A Case Report.","authors":"Küpper Hanna, Roggia Cristiana, Winter Natalie, Grimm Alexander, Nägele Thomas, Rosewich Hendrik, Schuhmann Martin Ulrich","doi":"10.1155/crnm/6923539","DOIUrl":"10.1155/crnm/6923539","url":null,"abstract":"<p><strong>Introduction: </strong>Peripheral nerve sheath tumours (PNST) are an important feature of the <i>NF2</i>-related schwannomatosis. These constitute primarily schwannomas which are characterized as nodular, solitary benign tumours of single fascicles. We here describe a pronounced, extensive, multifascicular enlargement of the right ulnar nerve and bilateral brachial plexus in a teenage patient with <i>NF2</i>-related schwannomatosis. Neither their imaging nor the clinical characterization were consistent with classic schwannomas.</p><p><strong>Methods: </strong>Within a multimodal work-up, detailed and standardized high-resolution nerve ultrasound was correlated to clinical, electroneurographic, and MRI findings. Follow-up data over 2 years were provided.</p><p><strong>Results: </strong>The clinical presentation of a slowly progressive, predominantly motor axonal neuropathy of the right ulnar nerve prompted a comprehensive nerve ultrasound examination, initiated by this clinically and neurophysiologically defined \"sentinel\" finding. Ultrasound imaging revealed an extensive, fusiform enlargement of the right ulnar nerve, as well as bilateral involvement of the brachial plexus, the latter without corresponding clinical symptoms. Subsequent genetic analysis confirmed the diagnosis of NF2-related schwannomatosis.</p><p><strong>Discussion: </strong>Signs of a mononeuropathy are a frequent manifestation of <i>NF2</i>-related schwannomatosis in childhood. The here presented nerve imaging characteristics, however, did not correspond to classic schwannomas. The fusiform, long-extended, multifascicular enlargement with mixed hyper- and hypoechogenic components on ultrasound, as well as markedly T2-hyperintense and T1-isointense appearance with diffuse gadolinium enhancement on MRI, is consistent with perineurioma. These mesenchymal nerve tumours have rarely been described in <i>NF2</i>-related schwannomatosis. This association is further supported by the present case and highlights the necessity for additional peripheral nerve imaging studies in NF2-related schwannomatosis, including the application of high-resolution ultrasound.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"6923539"},"PeriodicalIF":0.9,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12530925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145328397","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":"The Diagnostic Pitfalls and Clinical Challenges of Unilateral Facial Paralysis in Acute Demyelinating Disorders: A Case Report and Literature Review.","authors":"Thamer S Alhowaish, Hossam Ali Alqahtani, Moustafa S Alhamadh, Ali Alanazi","doi":"10.1155/crnm/7635056","DOIUrl":"10.1155/crnm/7635056","url":null,"abstract":"<p><p>Guillain-Barré syndrome (GBS) is an acute immune-mediated polyradiculoneuropathy typically presenting with progressive limb weakness and areflexia, while bilateral facial nerve involvement is a well-recognized feature. However, unilateral facial palsy is exceedingly rare and can closely mimic Bell's palsy, complicating early diagnosis. We report the case of a previously healthy 32-year-old man whose illness began with subtle bilateral fingertip numbness ascending to his elbows, followed by the acute onset of right-sided facial weakness, perioral numbness, slurred speech, and inability to close his right eye. These symptoms developed shortly after an upper respiratory tract infection and were soon accompanied by toe numbness and gait unsteadiness. Examination revealed isolated right lower motor neuron facial palsy and a rapid progression from diminished to absent deep tendon reflexes, while muscle strength and general sensation remained preserved. The diagnosis of GBS was confirmed by absent reflexes, albuminocytologic dissociation in cerebrospinal fluid, and electrodiagnostic evidence of bilateral facial and trigeminal neuropathy. The patient was treated successfully with intravenous immunoglobulin, resulting in significant clinical improvement. This case underscores the diagnostic challenges of atypical GBS presentations and highlights the importance of considering GBS in patients with acute, evolving cranial neuropathies, even when the presentation closely resembles more common conditions such as Bell's palsy.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"7635056"},"PeriodicalIF":0.9,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12520800/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145298693","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":"Stiff Knee Gait After Stroke: The Potential Compensatory Role of Mid-Swing Rectus Femoris Activity.","authors":"Wieneke van Oorschot, Bente Bloks, Jip Kamphuis, Allan Pieterse, Alexander Geurts, Noël Keijsers, Jorik Nonnekes","doi":"10.1155/crnm/7703081","DOIUrl":"10.1155/crnm/7703081","url":null,"abstract":"<p><p>Reduced knee flexion during the swing phase of gait, commonly referred to as 'stiff knee gait,' is frequently encountered in patients with upper motor neuron syndrome, e.g., due to stroke. Rectus femoris spasticity is one of the main causes of stiff knee gait and can be treated with botulinum toxin (BoNT-A) injections. However, previous literature shows large response variations after BoNT-A treatment between individual participants. These variations could be due to the overestimation of rectus femoris spasticity during gait analyses based on the current main indicator: mid-swing rectus femoris activity. The objective of this video-illustrated case series, including gait data of four stroke patients with stiff knee gait, is to propose an alternative explanation for this mid-swing rectus femoris activity. The presented patients all show mid-swing rectus femoris activity, which could be considered a sign of spasticity but was interpreted as compensatory activity to improve foot clearance during the swing phase instead. Misinterpretation of compensatory rectus femoris activity as spasticity may lead to inadequate treatment with BoNT-A injections in some patients, possibly explaining the response variations found in previous literature. Additional biomechanical markers should be explored to better determine the contribution of rectus femoris spasticity in stiff knee in individual patients.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"7703081"},"PeriodicalIF":0.9,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12513780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145279078","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":"Diagnostic Challenges in Antiphospholipid Antibody-Associated Chorea: A Case Report.","authors":"Alexis Robin, Timour Vitte, Lorella Minotti, Philippe Kahane","doi":"10.1155/crnm/7560283","DOIUrl":"10.1155/crnm/7560283","url":null,"abstract":"<p><p>Choreas associated with antiphospholipid antibody syndrome (APS) are rare, and those linked to transient antibody positivity without APS are even rarer. This case report presents a unique and instructive instance of generalized chorea in an elderly patient associated with antiphospholipid antibodies, highlighting the diagnostic value of FDG-PET in such an uncommon case, which may help guide an etiology-based therapeutic management.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"7560283"},"PeriodicalIF":0.9,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12513769/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145279048","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":"Global Neurocognitive and Emotional Dysfunction in Fanconi Anemia: A Neuropsychological Case Report of a 39-Year-Old Patient.","authors":"Ollie Fegter, Brian M Cerny, Jason R Soble","doi":"10.1155/crnm/6424739","DOIUrl":"10.1155/crnm/6424739","url":null,"abstract":"<p><p>Fanconi anemia is a rare genetic disorder characterized by impaired DNA repair, leading to bone marrow failure, congenital anomalies, and increased cancer risk. Intellectual disability and developmental disorders in Fanconi anemia have been briefly described in previous studies, but there has been limited in-depth examination of cognitive functioning associated with Fanconi anemia. This case report presents comprehensive neuropsychological findings from a 39-year-old woman with Fanconi anemia, detailing significant cognitive impairment, including intellectual disability with concomitant deficits in learning and memory, processing speed, and complex attention/executive functions, while basic language and basic visuospatial skills remained relatively preserved. Neuroimaging revealed nonspecific cerebral calcifications. This cognitive profile aligns with limited existing reports suggesting intellectual disability and global cognitive impairment in Fanconi anemia. This case highlights the critical gap in Fanconi anemia literature regarding comprehensive neuropsychological data and underscores the necessity of systematic cognitive assessments in this population. Future research should include large-scale and longitudinal studies, potentially incorporating standardized cognitive testing within existing frameworks such as the International Fanconi Anemia Registry, to better characterize and understand cognitive trajectories and to develop targeted interventions to enhance the quality of life in individuals with Fanconi anemia.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"6424739"},"PeriodicalIF":0.9,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503968/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145249987","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}