Pub Date : 2023-06-19DOI: 10.17161/rrnmf.v4i2.18989
Keela Scott, Caitlyn Smith, Daniel Walker, Belinder Fender
Cryptococcal meningitis is a life-threatening condition caused by an invasive, opportunistic, encapsulated saprophytic fungus, either Cryptococcus neoformans or Cryptococcus gattii most often in immunocompromised patients, especially those with human immunodeficiency virus (HIV). Overwhelming invasive infection of immunocompetent patients is rather uncommon, and diagnosis is often challenging due to a more indolent course. We present a case of cryptococcal meningitis (CM) in a 72-year-old immunocompetent male following a recent motor vehicle accident.
{"title":"Cryptococcal Meningitis in an Immunocompetent Male: Case Report","authors":"Keela Scott, Caitlyn Smith, Daniel Walker, Belinder Fender","doi":"10.17161/rrnmf.v4i2.18989","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.18989","url":null,"abstract":"Cryptococcal meningitis is a life-threatening condition caused by an invasive, opportunistic, encapsulated saprophytic fungus, either Cryptococcus neoformans or Cryptococcus gattii most often in immunocompromised patients, especially those with human immunodeficiency virus (HIV). Overwhelming invasive infection of immunocompetent patients is rather uncommon, and diagnosis is often challenging due to a more indolent course. We present a case of cryptococcal meningitis (CM) in a 72-year-old immunocompetent male following a recent motor vehicle accident.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115299433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-19DOI: 10.17161/rrnmf.v4i2.18725
Britta L. Bureau, Jennifer M. Connelly, P. Barkhaus, DO RyanBrennan
Introduction/Background: Numb chin syndrome (NCS) is an uncommon but known complication of cancer. Prompt recognition is imperative to directed treatment. In some instances, numb chin may be complicated by other findings. Case Report: A 53-year-old female with past medical history of estrogen receptor positive invasive ductal breast carcinoma underwent partial mastectomy, chemotherapy, and radiation. After 6 years remission, new lung and liver metastases occurred, and chemotherapy resumed. Imaging was negative. Eight weeks later, she developed left chin numbness followed by progressive difficulty retaining food and drink. Her left lower lip weakened. Neurological examination revealed left lower lip weakness (showing a “droop” with attempted smile). The area of decreased sensation to sharp touch had expanded from the left chin to the nasolabial fold. The remainder of her neurological examination was unremarkable. Contrast-enhanced MRI was repeated which revealed a 1.9 cm enhancing left parotid mass. Summary/Conclusion: NCS is defined as an ipsilateral loss of chin sensation. If there is no history of trauma or dental injury and especially if the presentation is atypical, then cancer is the most likely etiology. This case began as an uncomplicated NCS that rapidly expanded to involve a greater portion of the trigeminal nerve distribution, in addition to a branch of the facial nerve. Thus, each focal deficit was not the result of separate distal nerve lesions, but rather partial proximal cranial neuropathies at their parotid gland propinquity.
{"title":"Numb Chin Syndrome: Atypical presentation of metastatic breast cancer","authors":"Britta L. Bureau, Jennifer M. Connelly, P. Barkhaus, DO RyanBrennan","doi":"10.17161/rrnmf.v4i2.18725","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.18725","url":null,"abstract":"Introduction/Background: Numb chin syndrome (NCS) is an uncommon but known complication of cancer. Prompt recognition is imperative to directed treatment. In some instances, numb chin may be complicated by other findings. \u0000 \u0000Case Report: A 53-year-old female with past medical history of estrogen receptor positive invasive ductal breast carcinoma underwent partial mastectomy, chemotherapy, and radiation. After 6 years remission, new lung and liver metastases occurred, and chemotherapy resumed. Imaging was negative. Eight weeks later, she developed left chin numbness followed by progressive difficulty retaining food and drink. Her left lower lip weakened. \u0000 \u0000Neurological examination revealed left lower lip weakness (showing a “droop” with attempted smile). The area of decreased sensation to sharp touch had expanded from the left chin to the nasolabial fold. The remainder of her neurological examination was unremarkable. Contrast-enhanced MRI was repeated which revealed a 1.9 cm enhancing left parotid mass. \u0000 \u0000Summary/Conclusion: NCS is defined as an ipsilateral loss of chin sensation. If there is no history of trauma or dental injury and especially if the presentation is atypical, then cancer is the most likely etiology. This case began as an uncomplicated NCS that rapidly expanded to involve a greater portion of the trigeminal nerve distribution, in addition to a branch of the facial nerve. Thus, each focal deficit was not the result of separate distal nerve lesions, but rather partial proximal cranial neuropathies at their parotid gland propinquity.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"42 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115520351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-19DOI: 10.17161/rrnmf.v4i2.19529
P. Kanatas, Kevin C. O’Connor, P. Stathopoulos
Myasthenia gravis (MG) is an autoimmune disorder characterized by muscle weakness and fatigue, mediated in the majority of cases by IgG1 autoantibodies targeting the acetylcholine receptor (AChR). As AChR autoantibodies have been shown to be pathogenic, therapies targeting B cells have been applied in patients with AChR MG for more than a decade. Recently, a phase 2 trial of the CD20-targeting agent, rituximab, in AChR MG unfortunately failed to meet its primary endpoint. Converging data however from non-randomized clinical series, some of which with more participants than the phase 2 trial, support efficacy of rituximab in AChR MG, especially early onset disease. In this opinion article, we summarize both clinical data and mechanistic principles on the use of CD20 depletion therapy in AChR MG, which we believe lend support to the argument that CD20 depletion can still be a useful therapeutic strategy for patients with AChR MG.
{"title":"CD20-mediated B cell depletion in acetylcholine receptor autoantibody-positive myasthenia gravis","authors":"P. Kanatas, Kevin C. O’Connor, P. Stathopoulos","doi":"10.17161/rrnmf.v4i2.19529","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.19529","url":null,"abstract":"Myasthenia gravis (MG) is an autoimmune disorder characterized by muscle weakness and fatigue, mediated in the majority of cases by IgG1 autoantibodies targeting the acetylcholine receptor (AChR). As AChR autoantibodies have been shown to be pathogenic, therapies targeting B cells have been applied in patients with AChR MG for more than a decade. Recently, a phase 2 trial of the CD20-targeting agent, rituximab, in AChR MG unfortunately failed to meet its primary endpoint. Converging data however from non-randomized clinical series, some of which with more participants than the phase 2 trial, support efficacy of rituximab in AChR MG, especially early onset disease. In this opinion article, we summarize both clinical data and mechanistic principles on the use of CD20 depletion therapy in AChR MG, which we believe lend support to the argument that CD20 depletion can still be a useful therapeutic strategy for patients with AChR MG.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124594671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-19DOI: 10.17161/rrnmf.v4i2.18512
O. Carbunar, M. Saporta, Sakir H Gultekin
Myofibrilar myopathy is associated with a wide spectrum of clinical phenotypes, affecting individuals between the age of 25-45 year of age with proximal, distal or generalized weakness. In addition to the skeletal muscle being involved, the heart can be affected and congestive heart failure and arrhythmias can be the predominant feature of the disease. Here, we present 2 new variants in DES causing desmin-myofibrillary myopathies. These variants are not present in population databases and they were not reported in the literature. The discovery of new pathogenic variants such as these ones, help further understanding of this disease and facilitate diagnosis in future patients.
{"title":"Two new rare pathogenic variants in DES gene causing distal myofibrillar myopathy","authors":"O. Carbunar, M. Saporta, Sakir H Gultekin","doi":"10.17161/rrnmf.v4i2.18512","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.18512","url":null,"abstract":"Myofibrilar myopathy is associated with a wide spectrum of clinical phenotypes, affecting individuals between the age of 25-45 year of age with proximal, distal or generalized weakness. In addition to the skeletal muscle being involved, the heart can be affected and congestive heart failure and arrhythmias can be the predominant feature of the disease. Here, we present 2 new variants in DES causing desmin-myofibrillary myopathies. These variants are not present in population databases and they were not reported in the literature. The discovery of new pathogenic variants such as these ones, help further understanding of this disease and facilitate diagnosis in future patients.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129838197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-19DOI: 10.17161/rrnmf.v4i2.18692
DO JonathanMorena, Hera A. Kamdar, R. Yasin, J. Hoyle, Adam Quick, S. Kolb, J. Morena
Introduction: Facial Onset Sensory and Motor Neuronopathy (FOSMN) typically presents with paresthesias in the trigeminal nerve distribution and weakness that progresses rostro-caudally. Objective: To present two new cases of FOSMN, summarize the current literature, and address areas for future study. Methods: Observational data was collected from two patients with FOSMN from our institution. A literature review of FOSMN was completed using PubMed. Results: We identified 100 cases of FOSMN, including our two new cases. 93% presented with facial paresthesias. 97% had bulbar symptoms. Five had family history of ALS. Abnormal Blink reflex was most common on EMG/NCS. CSF was typically normal, but a rare severe case showed elevated protein. Mutations included: TARDBP, OPMD, D90A-SOD1, CHCHD10, VCP, and SQSTM1. Neuropathological studies showed neurodegenerative changes without inflammation. Some cases have reported transient stabilization or improvement to immunomodulatory therapy. Case Reports: A 72-year-old man presented with right-sided trigeminal paresthesias that progressed in a rostro-caudal fashion, dysphagia, and hand weakness. He died 4-5 years after symptom onset. A 69-year-old man presented with left-sided jaw paresthesias, dysphagia and dysarthria. He was trialed on IVIG for 1.5 years without improvement and died 2.6 years after symptom onset. Conclusion: FOSMN is a rare disorder with a unique clinical and electrophysiological phenotype. The pathophysiology has been associated with neurodegeneration and multiple gene mutations have correlated to FOSMN. Some reports suggest transient response to immunomodulatory therapy, though prospective studies are lacking. CSF protein elevation may be seen in severe disease. Future studies will help further elucidate the approach to diagnosis, treatment, and prognostic counseling (biomarkers).
{"title":"Facial Onset Sensory and Motor Neuronopathy: A Case Series and Literature Review","authors":"DO JonathanMorena, Hera A. Kamdar, R. Yasin, J. Hoyle, Adam Quick, S. Kolb, J. Morena","doi":"10.17161/rrnmf.v4i2.18692","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.18692","url":null,"abstract":"Introduction: Facial Onset Sensory and Motor Neuronopathy (FOSMN) typically presents with paresthesias in the trigeminal nerve distribution and weakness that progresses rostro-caudally. \u0000Objective: To present two new cases of FOSMN, summarize the current literature, and address areas for future study. \u0000Methods: Observational data was collected from two patients with FOSMN from our institution. A literature review of FOSMN was completed using PubMed. \u0000Results: We identified 100 cases of FOSMN, including our two new cases. 93% presented with facial paresthesias. 97% had bulbar symptoms. Five had family history of ALS. Abnormal Blink reflex was most common on EMG/NCS. CSF was typically normal, but a rare severe case showed elevated protein. Mutations included: TARDBP, OPMD, D90A-SOD1, CHCHD10, VCP, and SQSTM1. Neuropathological studies showed neurodegenerative changes without inflammation. Some cases have reported transient stabilization or improvement to immunomodulatory therapy. \u0000Case Reports: A 72-year-old man presented with right-sided trigeminal paresthesias that progressed in a rostro-caudal fashion, dysphagia, and hand weakness. He died 4-5 years after symptom onset. A 69-year-old man presented with left-sided jaw paresthesias, dysphagia and dysarthria. He was trialed on IVIG for 1.5 years without improvement and died 2.6 years after symptom onset. \u0000Conclusion: FOSMN is a rare disorder with a unique clinical and electrophysiological phenotype. The pathophysiology has been associated with neurodegeneration and multiple gene mutations have correlated to FOSMN. Some reports suggest transient response to immunomodulatory therapy, though prospective studies are lacking. CSF protein elevation may be seen in severe disease. Future studies will help further elucidate the approach to diagnosis, treatment, and prognostic counseling (biomarkers). \u0000 ","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":" 8","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114053262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-19DOI: 10.17161/rrnmf.v4i2.19779
R. Barohn
{"title":"Dr. Louis Tompkins Wright: One of the early Black men in white coats","authors":"R. Barohn","doi":"10.17161/rrnmf.v4i2.19779","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.19779","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125990133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-19DOI: 10.17161/rrnmf.v4i2.18636
J. Hill, Yuebing Li
Introduction While there is a well-known association of immune check point inhibitors and myasthenia gravis (MG), there has also been three previous cases of new onset MG being associated with B-Raf proto-oncogene serine/threonineprotein kinase (BRAF) and/or mitogen-activated protein kinase (MEK) inhibition treatment. The previously associated medications include binimetinib (MEK inhibitor) and the combination of dadrafenib (BRAF inhibitor) and trametinib (MEK inhibitor).1–3 We report a novel case of a patient with well controlled generalized MG who developed exacerbation after treatment for metastatic melanoma with vemurafenib, a BRAF inhibitor, and cobimetinib, a MEK inhibitor.
{"title":"Myasthenia Gravis Exacerbation Following BRAF and MEK Inhibitor Therapy","authors":"J. Hill, Yuebing Li","doi":"10.17161/rrnmf.v4i2.18636","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.18636","url":null,"abstract":"Introduction While there is a well-known association of immune check point inhibitors and myasthenia gravis (MG), there has also been three previous cases of new onset MG being associated with B-Raf proto-oncogene serine/threonineprotein kinase (BRAF) and/or mitogen-activated protein kinase (MEK) inhibition treatment. The previously associated medications include binimetinib (MEK inhibitor) and the combination of dadrafenib (BRAF inhibitor) and trametinib (MEK inhibitor).1–3 We report a novel case of a patient with well controlled generalized MG who developed exacerbation after treatment for metastatic melanoma with vemurafenib, a BRAF inhibitor, and cobimetinib, a MEK inhibitor.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121411238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-19DOI: 10.17161/rrnmf.v4i2.18489
N. Katyal, R. Govindarajan
Background Eculizumab, a C5 complement inhibitor, has been approved for management of patients with treatment refractory Acetylcholine receptor positive (AChR+) Generalized Myasthenia Gravis (gMG). Though majority of patients receiving eculizumab experience clinical improvement, a small number of patients may have poor response. Objective To report three cases of poor response to eculizumab in young caucasian patients with treatment refractory gMG. Methods Case Series Results All three patients were young, caucasian, thymectomized, females with MGFA class III, treatment refractory MG on multiple immunosuppressant medications. All three patients had initial worsening of MG- ADL score, 1 month post eculizumab, followed by an unchanged MG ADL and MGC score, 3 months after eculizumab therapy. No changes were noted in the number of acute exacerbations of MG, pre and post eculizumab therapy. All patients were eventually started on maintenance Plasma-exchange (PLEX) therapy, post eculizumab failure and had clinical improvement in MG-ADL and MGC scores and reduction in the number of acute exacerbations of disease. Conclusion The exact mechanism contributing to poor clinical response to eculizumab in gMG patients remains unclear. Further studies are warranted to undermine the underlying pathogenesis.
{"title":"Poor response to Eculizumab in Caucasian Patients with Treatment Refractory Generalized Myasthenia Gravis: A case series","authors":"N. Katyal, R. Govindarajan","doi":"10.17161/rrnmf.v4i2.18489","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.18489","url":null,"abstract":"Background \u0000Eculizumab, a C5 complement inhibitor, has been approved for management of patients with treatment refractory Acetylcholine receptor positive (AChR+) Generalized Myasthenia Gravis (gMG). Though majority of patients receiving eculizumab experience clinical improvement, a small number of patients may have poor response. \u0000 \u0000Objective \u0000To report three cases of poor response to eculizumab in young caucasian patients with treatment refractory gMG. \u0000 \u0000Methods \u0000Case Series \u0000 \u0000Results \u0000All three patients were young, caucasian, thymectomized, females with MGFA class III, treatment refractory MG on multiple immunosuppressant medications. All three patients had initial worsening of MG- ADL score, 1 month post eculizumab, followed by an unchanged MG ADL and MGC score, 3 months after eculizumab therapy. No changes were noted in the number of acute exacerbations of MG, pre and post eculizumab therapy. All patients were eventually started on maintenance Plasma-exchange (PLEX) therapy, post eculizumab failure and had clinical improvement in MG-ADL and MGC scores and reduction in the number of acute exacerbations of disease. \u0000 \u0000Conclusion \u0000The exact mechanism contributing to poor clinical response to eculizumab in gMG patients remains unclear. Further studies are warranted to undermine the underlying pathogenesis. \u0000 ","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"85 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115857854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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