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Is endocrine surveillance important in the care of Duchenne Muscular Dystrophy? Results from a national survey to patients and families on endocrine complications 内分泌监测对杜兴氏肌肉萎缩症的治疗重要吗?对患者和家属进行内分泌并发症全国调查的结果
eNeurologicalSci Pub Date : 2024-06-15 DOI: 10.1016/j.ensci.2024.100513
Despoina Galetaki , Vivian Szymczuk , Melody Shi , Nadia Merchant
{"title":"Is endocrine surveillance important in the care of Duchenne Muscular Dystrophy? Results from a national survey to patients and families on endocrine complications","authors":"Despoina Galetaki ,&nbsp;Vivian Szymczuk ,&nbsp;Melody Shi ,&nbsp;Nadia Merchant","doi":"10.1016/j.ensci.2024.100513","DOIUrl":"10.1016/j.ensci.2024.100513","url":null,"abstract":"<div><p>Glucocorticoids are standard of care for patients with Duchenne muscular dystrophy (DMD). Although prolonged exposure is associated with multiple endocrine side effects, current guidelines related to monitoring and management of endocrinopathies are suboptimal. We aim to explore community perceptions of endocrine related complications in patients with DMD, assess current level of understanding, and desire for further education. A 31-item online survey was sent through Parent Project to Muscular Dystrophy (PPMD) to Duchenne Registry members to be completed by patients or their caretakers. Response rate was 55% (<em>n</em> = 75). Steroids were taken by 93%, but only 50% were followed by endocrinology and 21% report never been seen by endocrinology. Bone health was discussed with 87% of patients and 60% were diagnosed with osteoporosis. Delayed puberty was discussed with 41% of patients with 23% receiving testosterone therapy. About half the patients reported a diagnosis of slowed growth. Only 51% of the participants recalled discussing adrenal insufficiency. Obesity was discussed with 59% of participants. Families felt education about steroid-induced endocrinopathies to be very or extremely important and prefer to discuss about this at the beginning of their steroid therapy. This demonstrates significant gaps in education and access to endocrine care in patients with DMD.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"36 ","pages":"Article 100513"},"PeriodicalIF":0.0,"publicationDate":"2024-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000200/pdfft?md5=69cc0a0ba5ae430c232f8a19911ec762&pid=1-s2.0-S2405650224000200-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141392362","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
Acute Motor Conduction Block Neuropathy After Initiation of Omalizumab: Case Report and Literature Review for Possible Causality 开始使用奥马珠单抗后出现急性运动传导阻滞性神经病:病例报告和可能因果关系的文献综述
eNeurologicalSci Pub Date : 2024-06-15 DOI: 10.1016/j.ensci.2024.100512
Hosna S. Elshony , Abdulaziz Al-Ghamdi
{"title":"Acute Motor Conduction Block Neuropathy After Initiation of Omalizumab: Case Report and Literature Review for Possible Causality","authors":"Hosna S. Elshony ,&nbsp;Abdulaziz Al-Ghamdi","doi":"10.1016/j.ensci.2024.100512","DOIUrl":"10.1016/j.ensci.2024.100512","url":null,"abstract":"<div><h3>Background</h3><p>Omalizumab is an established therapy for allergic conditions, yet its neurological effects remain underexplored compared to other biological agents.</p></div><div><h3>Case description</h3><p>A 45-year-old male with asthma developed acute quadriparesis one week after receiving the first dose of omalizumab. Electrophysiological studies have shown partial motor conduction block in multiple nerves, with reduced CMAP amplitudes and absent F-waves in others. CSF showed cyto-albuminous dissociation. The diagnosis was a variant of Guillain-Barré syndrome. Despite intravenous immunoglobulin (IVIG) therapy, the patient experienced persistent neuropathic symptoms.</p></div><div><h3>Discussion</h3><p>The patient presented with acute quadriparesis devoid of sensory or cranial nerve involvement, suggestive of a variant of Guillain-Barré syndrome (GBS) known as acute motor conduction block neuropathy (AMCBN). Electrophysiological studies have indicated conduction block without demyelination, implicating axonal degeneration. Despite negative findings for common etiologies, the temporal association between omalizumab administration and symptom onset suggests a potential link, supported by criteria for drug-induced illness. Conflicting evidence exists regarding omalizumab's neurological effects, with proposed mechanisms including autoimmune reactions and mast cell dysfunction. Comparisons to TNF-α antagonists highlight similar neuropathy patterns, indicating a need for further research to clarify omalizumab's neurotoxicity.</p></div><div><h3>Conclusion</h3><p>In conclusion, while omalizumab holds promise for allergic conditions, including chronic urticaria, its potential impact on peripheral nerves necessitates vigilance among clinicians. Further studies are imperative to ascertain the risk-benefit profile and elucidate underlying mechanisms and risk factors of neurological complications associated with omalizumab therapy.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"36 ","pages":"Article 100512"},"PeriodicalIF":0.0,"publicationDate":"2024-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000194/pdfft?md5=b804096e2d01e17529386f9194ed4405&pid=1-s2.0-S2405650224000194-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141395216","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
Effects of vaccination on COVID-19 infection symptoms in multiple sclerosis patients 接种疫苗对多发性硬化症患者 COVID-19 感染症状的影响
eNeurologicalSci Pub Date : 2024-06-12 DOI: 10.1016/j.ensci.2024.100511
Parisa Sharifi , Nasim Rezaeimanesh , Amir Moradi , Abdorreza Naser Moghadasi
{"title":"Effects of vaccination on COVID-19 infection symptoms in multiple sclerosis patients","authors":"Parisa Sharifi ,&nbsp;Nasim Rezaeimanesh ,&nbsp;Amir Moradi ,&nbsp;Abdorreza Naser Moghadasi","doi":"10.1016/j.ensci.2024.100511","DOIUrl":"10.1016/j.ensci.2024.100511","url":null,"abstract":"<div><h3>Background</h3><p>Patients with multiple sclerosis (MS) are at higher risk of having infections due to receiving disease modifying therapies. The current study was conducted among Iranian MS patients who had experienced at least one episode of COVID-19 infection in order to evaluate the effects of COVID-19 vaccination on symptoms of their infection. Data on demographic information, MS characteristics, COVID-19 infection details, and vaccination status were collected. Statistical analyses, were performed to evaluate the association between vaccination and symptoms of COVID-19 infection.</p></div><div><h3>Methods</h3><p>This cross-sectional study was conducted on confirmed MS patients. Demographic data and COVID-19 related symptoms were gathered via an online questionnaire. Confirmation of patients' who declared to be vaccinated was checked by their COVID-19 vaccination card.</p></div><div><h3>Results</h3><p>A total of 236 MS patients participated in the study. The majority were female (79.7%), with a mean age of 36.1 ± 7.9 years. Among the participants, 72.5% had received the COVID-19 vaccine before their first episode of COVID-19 infection. The analysis showed a significant difference in the incidence of respiratory symptoms (<em>P</em>-value: 0.01) and headache (P-value: 0.04) between vaccinated and non-vaccinated individuals. Logistic regression analysis revealed that vaccinated MS patients had lower odds of developing respiratory symptoms (OR:0.29, 95% CI: 0.16 to 0.53, <em>P</em>-value&lt;0.001) or headache (OR: 0.50, 95% CI: 0.25 to 0.98, P-value: 0.04) during their next COVID-19 infection episode. Moreover, MS patients who were receiving immunosuppressive drugs were less likely to have respiratory symptoms (OR:0.35, 95% CI: 0.16 to 0.77, <em>P</em>-value:0.009) but not headache (OR: 0.69, 95% CI: 0.30 to 1.60, P-value: 0.39).</p></div><div><h3>Conclusion</h3><p>COVID-19 vaccination can reduce the incidence of respiratory symptoms and headaches in MS patients during COVID-19 infection episodes. Additionally, patients who are receiving immunosuppressive drugs may benefit from COVID-19 vaccination.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"36 ","pages":"Article 100511"},"PeriodicalIF":0.0,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000182/pdfft?md5=10e489228c32598c74a318434d7b8e4c&pid=1-s2.0-S2405650224000182-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141414830","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 decade with anomic primary progressive aphasia 一个患有原发性进行性失语症的十年
eNeurologicalSci Pub Date : 2024-06-01 DOI: 10.1016/j.ensci.2024.100508
Shoko Ota , Kazuo Kakinuma , Wataru Narita , Yoshiyuki Nishio , Nobuko Kawakami , Ayane Tamagake , Shigenori Kanno , Minoru Matsuda , Kyoko Suzuki
{"title":"A decade with anomic primary progressive aphasia","authors":"Shoko Ota ,&nbsp;Kazuo Kakinuma ,&nbsp;Wataru Narita ,&nbsp;Yoshiyuki Nishio ,&nbsp;Nobuko Kawakami ,&nbsp;Ayane Tamagake ,&nbsp;Shigenori Kanno ,&nbsp;Minoru Matsuda ,&nbsp;Kyoko Suzuki","doi":"10.1016/j.ensci.2024.100508","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100508","url":null,"abstract":"<div><p>Some patients with primary progressive aphasia (PPA) demonstrate only anomia. The lack of longitudinal observations of anomic PPA precluded us from determining whether progressive anomic aphasia was simply an early stage of semantic or logopenic variants, or a relatively independent variant. Herein, we report the 10-year clinical course of a patient with PPA who presented with pure anomic aphasia for 9 years. He is a right-handed man with anomia, who noticed word-finding difficulty at age 73. He was admitted to the hospital at age 77. On admission, the patient showed pure anomic aphasia with preserved other language function. Episodic memory and visuospatial function were preserved. Magnetic resonance imaging (MRI) revealed left temporal lobe atrophy. At 82 years of age, the patient presented with pure anomic aphasia. At 83 years old, he showed mild impairment in word comprehension and semantic memory, in addition to anomia. MRI demonstrated further atrophy in the bilateral anterior temporal lobes, predominantly on the left side. This case suggests the possibility of slowly progressive, late-onset anomic PPA, which could be differentiated from the early stage of semantic or logopenic variants.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100508"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000157/pdfft?md5=5f14ff35ae069e1058244099cd7eff13&pid=1-s2.0-S2405650224000157-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141291124","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 case of chronic progressive autoimmune GFAP astrocytopathy with extensive meningoencephalomyelitis and contrast enhancement on MRI 一例慢性进行性自身免疫性 GFAP 星形胶质细胞病,伴有广泛的脑膜脑脊髓炎和核磁共振成像对比增强
eNeurologicalSci Pub Date : 2024-06-01 DOI: 10.1016/j.ensci.2024.100507
Hironori Oka , Takumi Nakamura , Takashi Sugawara , Kunihiko Ishizawa , Masakuni Amari , Takeshi Kawarabayashi , Koichi Okamoto , Masamitsu Takatama , Satoshi Nakata , Yuhei Yoshimoto , Ayako Yamazaki , Hideaki Yokoo , Akio Kimura , Takayoshi Shimohata , Yoshio Ikeda , Mikio Shoji
{"title":"A case of chronic progressive autoimmune GFAP astrocytopathy with extensive meningoencephalomyelitis and contrast enhancement on MRI","authors":"Hironori Oka ,&nbsp;Takumi Nakamura ,&nbsp;Takashi Sugawara ,&nbsp;Kunihiko Ishizawa ,&nbsp;Masakuni Amari ,&nbsp;Takeshi Kawarabayashi ,&nbsp;Koichi Okamoto ,&nbsp;Masamitsu Takatama ,&nbsp;Satoshi Nakata ,&nbsp;Yuhei Yoshimoto ,&nbsp;Ayako Yamazaki ,&nbsp;Hideaki Yokoo ,&nbsp;Akio Kimura ,&nbsp;Takayoshi Shimohata ,&nbsp;Yoshio Ikeda ,&nbsp;Mikio Shoji","doi":"10.1016/j.ensci.2024.100507","DOIUrl":"10.1016/j.ensci.2024.100507","url":null,"abstract":"","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100507"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000145/pdfft?md5=e251a8e330672ec6961b89235e0eb9c3&pid=1-s2.0-S2405650224000145-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141276125","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 SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia 遗传性痉挛性截瘫杂合子携带者的新型 SPAST 基因剪接变异(c.1617-2A>C)
eNeurologicalSci Pub Date : 2024-06-01 DOI: 10.1016/j.ensci.2024.100506
Elvira Sbragia , Andrea Assini , Silvia Calzavara , Paola Carrera , Claudio Marcello Solaro , Emilio Di Maria
{"title":"A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia","authors":"Elvira Sbragia ,&nbsp;Andrea Assini ,&nbsp;Silvia Calzavara ,&nbsp;Paola Carrera ,&nbsp;Claudio Marcello Solaro ,&nbsp;Emilio Di Maria","doi":"10.1016/j.ensci.2024.100506","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100506","url":null,"abstract":"<div><p>Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of lower limbs. We report a novel splicing variant (c.1617-2A&gt;C) of the <em>SPAST</em> gene in a heterozygous carrier from an Italian family with autosomal dominant HSP. The case study describes a pure form of spastic paraparesis with the cardinal clinical features of SPG4. The novel variant affects a canonical splice site and is likely to disrupt RNA splicing. We conclude that the c.1617-2A&gt;C substitution is a null variant, which could be classified as pathogenic; its penetrance should be further investigated.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100506"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000133/pdfft?md5=d94f16d2971e6637b553c0ac7fa778f8&pid=1-s2.0-S2405650224000133-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141244916","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
Unforeseen effects: Hiccups unveiled by high-dose steroids in demyelination 不可预见的影响:大剂量类固醇在脱髓鞘过程中揭示的打嗝现象
eNeurologicalSci Pub Date : 2024-06-01 DOI: 10.1016/j.ensci.2024.100509
Sai Niharika Tammineedi , Ramit Singla , Marilhia Cornejo Leon , Muskan Kohli , Chetan Saini , Aakanksha Pitiliya
{"title":"Unforeseen effects: Hiccups unveiled by high-dose steroids in demyelination","authors":"Sai Niharika Tammineedi ,&nbsp;Ramit Singla ,&nbsp;Marilhia Cornejo Leon ,&nbsp;Muskan Kohli ,&nbsp;Chetan Saini ,&nbsp;Aakanksha Pitiliya","doi":"10.1016/j.ensci.2024.100509","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100509","url":null,"abstract":"<div><h3>Background</h3><p>Intractable hiccups, persisting beyond 48 h, pose a clinical challenge, particularly in demyelinating diseases like Neuromyelitis Optica (NMO) and Multiple Sclerosis (MS). Understanding the complex neural pathways of the hiccup reflex and the impact of high-dose steroid therapy is crucial for managing this rare but distressing symptom. The hiccup reflex involves afferents from the vagus, phrenic, and sympathetic nerves, with the reflex center in the anterior horns at the C3 to 5 level and the medulla oblongata. The potential interplay between demyelination and corticosteroid therapy in triggering persistent hiccups requires exploration.</p></div><div><h3>Case report</h3><p>This case report details a 21-year-old male with undiagnosed demyelinating disorder, presenting persistent hiccups following high-dose steroid therapy for an acute disease flare. The patient's history included vertigo and progressive neurological symptoms, leading to an MS diagnosis with significant brain and spinal lesions. Persistent hiccups, initiated by steroid administration, were recurrent but responsive to metoclopramide after other measures failed.</p></div><div><h3>Discussion</h3><p>The discussion centers on investigating the cause of hiccups in a patient with demyelination following steroid administration. Steroids' impact on neurological systems, including neurotransmitter function, and the potential disruption of neurological pathways due to demyelination may contribute to hiccups. Successful hiccup resolution with metoclopramide suggests a potential pharmacological approach for corticosteroid-induced hiccups in demyelinating diseases. This case emphasizes the need for further research into the intricate relationship between demyelination, steroid therapy, and hiccups to enhance management strategies for this uncommon yet impactful symptom.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100509"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000169/pdfft?md5=33a5dfde3e80bfcc0bd2c992a7fe3287&pid=1-s2.0-S2405650224000169-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141292360","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
Bing Neel syndrome presenting as isolated cranial nerve palsies – a case report 冰-尼尔综合征表现为孤立性颅神经麻痹--病例报告
eNeurologicalSci Pub Date : 2024-05-15 DOI: 10.1016/j.ensci.2024.100505
Dipti Baskar , Davuluri Durga Srinivas Anudeep , Seena Vengalil , Preetham Patavaradhan , Karthik Kulanthaivelu , Ravindu Tiwari , Bevinahalli Nanjegowda Nandeesh , Keerti Sitani , Pritam Raja , Ravindranadh C. Mundlamuri , Ravi Yadav , Atchayaram Nalini
{"title":"Bing Neel syndrome presenting as isolated cranial nerve palsies – a case report","authors":"Dipti Baskar ,&nbsp;Davuluri Durga Srinivas Anudeep ,&nbsp;Seena Vengalil ,&nbsp;Preetham Patavaradhan ,&nbsp;Karthik Kulanthaivelu ,&nbsp;Ravindu Tiwari ,&nbsp;Bevinahalli Nanjegowda Nandeesh ,&nbsp;Keerti Sitani ,&nbsp;Pritam Raja ,&nbsp;Ravindranadh C. Mundlamuri ,&nbsp;Ravi Yadav ,&nbsp;Atchayaram Nalini","doi":"10.1016/j.ensci.2024.100505","DOIUrl":"10.1016/j.ensci.2024.100505","url":null,"abstract":"<div><h3>Background and aims</h3><p>Waldenstroms macroglobulinemia (WM) is a low-grade B cell neoplasm. Bing Neel syndrome is a rare manifestation of WM characterized by infiltrative involvement of the central nervous system.</p></div><div><h3>Case report</h3><p>64-year-old man, presented with 4 years history of slowly progressive diplopia and ptosis of eyes. Examination showed left oculomotor (internal and external ophthalmoplegia), with trochlear, abducens, and right partial oculomotor and abducens nerve involvement. Evaluation showed anemia of hemoglobin 10.7 g/dL, raised erythrocyte sedimentation rate of 120 mm/h and plasma albumin:globulin reversal. Serum protein electrophoresis showed a paraprotein peak in the early gamma region with elevated IgM level (3810 mg/dL) and elevated free kappa light chain level (70.1 mg/L). Bone marrow aspiration from posterior iliac crest revealed mature small lymphocytes with positive immunohistochemical markers of CD5, CD10 negativity and MYD88 mutation positivity suggestive of WM. Patient was treated with bendamustine and rituximab regimen, with no neurological improvement at the end of one year.</p></div><div><h3>Conclusion</h3><p>This case expands spectrum of paraproteinemic neuropathy to include cranial nerve palsy. Thus, plasma cell dyscrasias have to be considered in patients with isolated ophthalmoparesis especially in elderly patients, even with other comorbidities such as diabetes mellitus.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100505"},"PeriodicalIF":0.0,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000121/pdfft?md5=36e35337f62ce8025b8f5f160da2f552&pid=1-s2.0-S2405650224000121-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141046492","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
Spinal melanoma with optic neuropathy –rare manifestation of Neurocutaneous melanosis and PET-MRI findings 脊髓黑色素瘤伴视神经病变--神经皮肤黑色素病的罕见表现和 PET-MRI 发现
eNeurologicalSci Pub Date : 2024-05-14 DOI: 10.1016/j.ensci.2024.100504
Dipti Baskar , Seena Vengalil , Priyanka Chakkera , Sai Bhargava Sanka , Pritam Raja , Karthik Kulanthaivelu , Preetham Patavardhan , Keerti Sitani , Yasha T. Chickabasaviah , Nupur Pruthi , Atchayaram Nalini
{"title":"Spinal melanoma with optic neuropathy –rare manifestation of Neurocutaneous melanosis and PET-MRI findings","authors":"Dipti Baskar ,&nbsp;Seena Vengalil ,&nbsp;Priyanka Chakkera ,&nbsp;Sai Bhargava Sanka ,&nbsp;Pritam Raja ,&nbsp;Karthik Kulanthaivelu ,&nbsp;Preetham Patavardhan ,&nbsp;Keerti Sitani ,&nbsp;Yasha T. Chickabasaviah ,&nbsp;Nupur Pruthi ,&nbsp;Atchayaram Nalini","doi":"10.1016/j.ensci.2024.100504","DOIUrl":"10.1016/j.ensci.2024.100504","url":null,"abstract":"<div><p>Neurocutaneous melanocytosis (NCM) is a rare, sporadic neuroectodermal dysplasia characterized by the presence of large or multiple congenital cutaneous nevi and melanocytic deposits in the central nervous system. Hitherto, unreported we describe a case of NCM with optic neuropathy and spinal cord melanoma from India. A 20 year-old-lady had headache and vomiting for 3 months followed by consecutive profound painless visual impairment. Visual acuity was counting of fingers at 1 m distance in both eyes with normal fundus. There were no symptoms of spinal cord involvement. Clinical examination showed multiple small to large melanocytic nevi over the face and body. Muscle power was normal. Tendon reflexes were exaggerated. Visual evoked potential showed bilateral prolonged P100 latency (Right eye - 144 msec; Left eye - 151 msec). Brain MRI revealed leptomeningeal enhancement of brainstem, cerebellum, oculomotor and facial-abducent nerve complex without optic nerve involvement. MRI spine showed extensive dorsal thoracic cord epidural lesion extending along the entire thoracic cord segment with dorsal cord compression. Positron Emission Tomography (PET) imaging showed Fludeoxyglucose F18 (FDG) avidity along D1-D12 levels of spinal cord. Biopsy from the cord lesion was suggestive of meningeal melanoma. Here we document a rare case of late onset NCM with intracranial meningeal infiltration and asymptomatic large epidural lesion of spinal cord, expanding its phenotypic spectrum. Optic neuropathy in NCM has not been reported earlier. Periodic screening of brain and spine is recommended for early prognostication and lesion identification in NCM.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100504"},"PeriodicalIF":0.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S240565022400011X/pdfft?md5=b5f85e5f1c0ac067ac8a2e5fec8fa6c9&pid=1-s2.0-S240565022400011X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141048280","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 effects of lactulose on constipation in patients with Parkinson's disease: An exploratory pilot study 乳果糖对帕金森病患者便秘的影响:探索性试点研究
eNeurologicalSci Pub Date : 2024-05-10 DOI: 10.1016/j.ensci.2024.100503
Shin-ichiro Kubo , Mako Ito , Kyoko Matsuba , Tomohiro Shimono
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