Osmond C Wu, Berje H Shammassian, Arunit J S Chugh, Aparna Harbhajanka, Manish K Kasliwal
{"title":"Ominous Occurrence of Spinal Intradural Primary Malignant Peripheral Nerve Sheath Tumor Four Decades following Radiation Therapy for Testicular Seminoma.","authors":"Osmond C Wu, Berje H Shammassian, Arunit J S Chugh, Aparna Harbhajanka, Manish K Kasliwal","doi":"10.1155/2020/1792582","DOIUrl":"https://doi.org/10.1155/2020/1792582","url":null,"abstract":"<p><p>Primary intradural malignant peripheral nerve sheath tumor (MPNST) is an extremely rare diagnosis and is associated with an extremely poor prognosis. A 77-year-old man diagnosed with an intradural MPNST, more than 40 years after radiation for a testicular seminoma, is reported. Intradural MPNSTs of the spine outside the setting of neurofibromatosis is extremely rare and can masquerade as common benign nerve sheath tumors, on imaging. An older age at presentation with short duration of symptoms and prior regional radiation treatment encompassing the spine in the treatment field regardless of remoteness should alert the oncologists and neurosurgeons to the possible existence of this rare and aggressive tumor, as the management, and overall prognosis of this tumor is distinctly different compared to the usual intradural spinal tumors.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"1792582"},"PeriodicalIF":0.9,"publicationDate":"2020-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/1792582","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37635539","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":"Conversion Disorder: Early Diagnosis and Personalized Therapy Plan Is the Key.","authors":"Lauren Miller, Robert L Archer, Nidhi Kapoor","doi":"10.1155/2020/1967581","DOIUrl":"https://doi.org/10.1155/2020/1967581","url":null,"abstract":"<p><p>Conversion disorder is characterized by one or more symptoms of altered voluntary motor or sensory functions that cannot be explained by a neurological disease (Keynejad, 2019; Samuels et al., 2019). We present a patient with conversion disorder and discuss her process in overcoming this disorder. Additionally, we review the literature about this specific disorder. A 15-year-old white female was diagnosed with conversion disorder and has shown significant recovery with physical therapy and group therapy since. It is essential to recognize this disorder early to lessen the financial burden on families and to speed up the recovery process for these patients.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"1967581"},"PeriodicalIF":0.9,"publicationDate":"2020-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/1967581","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38052110","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}
Ricky Chen, Gurjeet Singh, J Scott McNally, Cheryl A Palmer, Adam de Havenon
{"title":"Intravascular Lymphoma with Progressive CNS Hemorrhage and Multiple Dissections.","authors":"Ricky Chen, Gurjeet Singh, J Scott McNally, Cheryl A Palmer, Adam de Havenon","doi":"10.1155/2020/6134830","DOIUrl":"https://doi.org/10.1155/2020/6134830","url":null,"abstract":"<p><strong>Introduction: </strong>Intravascular lymphoma (IVL) is an uncommon and often fatal disease characterized by intraluminal proliferation of lymphomatous cells within blood vessels. Because of a heterogeneous clinical presentation and lack of sensitive diagnostic protocols, diagnosis of IVL is most often made at autopsy. However, with early diagnosis and appropriate chemotherapy, the prognosis is greatly improved and complete remission is possible. In order to broaden the possible presentations of IVL, we present a patient with an atypical manifestation of biopsy-proven intravascular large B-cell lymphoma who suffered dissections of both intracranial and extracranial arteries in addition to progressive intracranial hemorrhages. <i>Case Report</i>. A 47-year-old woman presented with unilateral paresthesias. She developed progressive multifocal infarcts and hemorrhage with dissections of both intracranial and extracranial arteries, resulting in coma. Brain biopsy revealed IVL. She received aggressive chemotherapy and remains in complete remission with good neurologic recovery.</p><p><strong>Conclusion: </strong>IVL is known to exert its pathology on small arteries and capillaries, but is not known to cause dissections of large vessels. The diagnosis should be considered in cases with unexplained arterial dissections and progressive strokes. Early diagnosis with appropriate laboratory screening and tissue confirmation by biopsy can lead to greatly improved outcomes.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"6134830"},"PeriodicalIF":0.9,"publicationDate":"2020-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/6134830","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38052549","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}
Chanaka Amugoda, Noushin Chini Foroush, Hamed Akhlaghi
{"title":"Anti-NMDAR Encephalitis: Higher Suspicious Needed for Earlier Diagnosis (Case Report, Literature Review and Diagnostic Criteria).","authors":"Chanaka Amugoda, Noushin Chini Foroush, Hamed Akhlaghi","doi":"10.1155/2019/7476254","DOIUrl":"https://doi.org/10.1155/2019/7476254","url":null,"abstract":"<p><strong>Background: </strong>Auto-immune mediated anti-NMDA receptor encephalitis is a very common delayed diagnosed encephalitis which predominately affecting young population.</p><p><strong>Objectives: </strong>This encephalitis is relatively unknown amongst emergency physicians and a majority of patients are admitted to psychiatric wards before their diagnosis is confirmed and appropriate treatments are commenced. We reported a case of a 22-year-old female presented to our emergency department with acute psychiatric symptoms. She was initially diagnosed with first presentation of acute psychosis and was hospitalised under mental health act. further assessment in the emergency department identified possible an organic cause for her acute psychosis and she was later admitted under medical team after her mental health assessment order was revoke. Several days later, her CSF result was positive with anti-NMDA receptor anti-bodies. Appropriate treatments were instituted leading to her full recovery.</p><p><strong>Conclusion: </strong>This case was the first confirmed anti-NMDA receptor encephalitis in our emergency department. It highlights the importance of thorough assessment of psychiatric presentations to emergency departments and consideration of auto-immune medicated encephalitis as one of the differential diagnosis in young patients presenting with first acute psychotic episode.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2019 ","pages":"7476254"},"PeriodicalIF":0.9,"publicationDate":"2019-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/7476254","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37557879","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 Report of Extensive Cerebral Venous Sinus Thrombosis as a Presenting Sign of Relapsing Nephrotic Syndrome.","authors":"Janet K Lee, Kathleen Murray, Swetha Renati","doi":"10.1155/2019/6840240","DOIUrl":"https://doi.org/10.1155/2019/6840240","url":null,"abstract":"<p><p>Nephrotic syndrome is defined by three characteristic features including proteinuria of >3 g in 24 hours, hypoalbuminemia of less than 3 g/dL, and peripheral edema. Multiple nephropathies can result in nephrotic syndrome. Most commonly, minimal change disease is seen in children under the age of 10, while adults are more commonly found to have membranous nephropathy. Hypercoagulability and thrombotic sequela can be seen in nephrotic syndrome, regardless of underlying etiology, and thrombosis is most commonly seen in deep veins of the lower extremities and renal veins. Our case identifies an adult with previously diagnosed and treated for minimal change disease who presented with weight gain, peripheral edema, foamy urine, headache but no neurologic deficits. The patient was found to have near to complete occlusion of the entire superior sagittal sinus, near complete occlusion of the left transverse and sigmoid sinuses, and nonocclusive thrombus in the right sigmoid sinus. She was treated with heparin and IV steroids then transitioned to warfarin and PO steroids, respectively, with resolution of symptoms. This case report emphasizes on the importance of recognizing CVST as a potential complication of nephrotic syndrome at both initial presentation and relapse.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2019 ","pages":"6840240"},"PeriodicalIF":0.9,"publicationDate":"2019-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/6840240","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37554268","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":"MELAS Missed for Years: Stroke-Like Lesions Are No Indication for Brain Biopsy.","authors":"J Finsterer","doi":"10.1155/2019/9312451","DOIUrl":"https://doi.org/10.1155/2019/9312451","url":null,"abstract":"<p><p>A 56-year-old female with a history of chronic alcoholism until age 38 y with a relapse between ages 45 and 46 y developed seizures, psychosis, and hemianopia to the left at age 46 y. Imaging revealed a right parieto-occipital lesion with intralesional bleeding. Five months after the first lesion she developed a second left parieto-occipital lesion, resulting in cortical blindness. Extensive workup, including brain biopsy, was noninformative. Retrospectively, the occipital abnormalities were identified as stroke-like lesions (SLLs). Further manifestations of the mitochondrial disorder (MID) were tremor, cerebral atrophy, bilateral basal ganglia, calcification, glaucoma, hypoacusis, short stature, hyperostosis frontalis, hyperthyroidism, sick-sinus syndrome and AV-block-1, and myopathy. According to the Walker criteria, a possible MID was diagnosed. In conclusion, adult-onset MID may be missed for years, SLLs may be easily misinterpreted entailing brain biopsy, and psychosis may contribute to a reduced impact for proper workup of a MID.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2019 ","pages":"9312451"},"PeriodicalIF":0.9,"publicationDate":"2019-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/9312451","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37554269","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}
Catarina Falcão de Campos, Miguel Oliveira Santos, Rafael Roque, Isabel Conceição, Mamede de Carvalho
{"title":"Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands.","authors":"Catarina Falcão de Campos, Miguel Oliveira Santos, Rafael Roque, Isabel Conceição, Mamede de Carvalho","doi":"10.1155/2019/5976410","DOIUrl":"https://doi.org/10.1155/2019/5976410","url":null,"abstract":"<p><p>Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the gene encoding the Thymidine Phosphorylase (TP). It is clinically characterized by severe gastrointestinal dysmotility, cachexia, palpebral ptosis, ophthalmoparesis, sensorimotor polyneuropathy and leukoencephalopathy. The diagnosis is established by the presence of typical clinical and neuroimaging features, positive family history, and abnormal genetic test. A 19-year-old Cape Verdean patient with a history since childhood of recurrent episodes of nausea, vomiting, diarrhoea and painful abdominal distension associated with progressive motor disability with difficulty in climbing stairs and running and clumsiness with her hands. The diagnostic workup was suggestive of MNGIE. Genetic screening of the <i>TYMP</i> gene identified a novel mutation (c. 1283 G>A). Patients with MNGIE have significant comorbidity and mortality, and they are frequently misdiagnosed. A better acknowledgment of this disorder is essential to permit an earlier diagnosis and to improve disease management.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2019 ","pages":"5976410"},"PeriodicalIF":0.9,"publicationDate":"2019-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/5976410","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37499868","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":"Duodenal Neuroendocrine Tumour Presenting as GABA B Receptor Autoimmune Encephalitis.","authors":"Dhanashree Peddawad, Manoj K Singh","doi":"10.1155/2019/3428918","DOIUrl":"https://doi.org/10.1155/2019/3428918","url":null,"abstract":"<p><p>GABA B receptor antibody positive autoimmune encephalitis is rarely seen in clinical practice. It is usually associated with small cell lung carcinoma, and occasionally with neuroendocrine tumour (NET) of lung. GABA B receptor antibody can be associated with other autoimmune antibodies like antinuclear antibody and antibody to Glutamic acid decarboxylase. We present a case with GABA B receptor autoimmune encephalitis associated with neuroendocrine tumour of the duodenum with special emphasis on correlation between immunostaining of the tumour and presence of GABA B receptor antibody.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2019 ","pages":"3428918"},"PeriodicalIF":0.9,"publicationDate":"2019-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/3428918","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37535929","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":"Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel <i>ANO3</i> Mutation.","authors":"Lizl Lasky, Lindsay Bliss, Christos Sidiropoulos","doi":"10.1155/2019/3154653","DOIUrl":"https://doi.org/10.1155/2019/3154653","url":null,"abstract":"<p><strong>Background: </strong>Dystonia is a ubiquitous syndrome, with a growing number of genes being continually identified. Mutations in the anoctamin-3 gene have been described to cause dystonia but the management and long-term outcomes are still largely unknown.</p><p><strong>Methods: </strong>We present here a long term, longitudinal follow up of a patient with generalized dystonia, who was treated with bilateral pallidal deep brain stimulation and was found to harbor a mutation in the anoctamin-3 gene.</p><p><strong>Results: </strong>Ongoing adjustment of stimulation settings and medications led to good and sustained dystonia control; however the patient did suffer short term relapses, manifested as dystonic crisis, which necessitated inpatient admission.</p><p><strong>Conclusion: </strong>This only the second patient to be reported with pallidal stimulation and an anoctamin-3 gene mutation. Long term outcomes seem to be favorable but larger case series are needed to confirm our findings.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2019 ","pages":"3154653"},"PeriodicalIF":0.9,"publicationDate":"2019-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/3154653","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37487101","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":"Nilotinib-Induced Dystonia and Cognitive Deficits in a Neurologically Normal Patient with Chronic Myeloid Leukemia","authors":"J. Chan, Paarth Shah, Guillermo Moguel-Cobos","doi":"10.1155/2019/3679319","DOIUrl":"https://doi.org/10.1155/2019/3679319","url":null,"abstract":"Nilotinib is a tyrosine kinase inhibitor used to treat patients with chronic myeloid leukemia (CML). This agent is also being studied in neurodegenerative disorders including Parkinson disease. Studies have shown that nilotinib may decrease the accumulation of parkin substrates and decrease the loss of dopaminergic cells. The use of nilotinib in neurologic disorders is relatively new, and little information about this use has been published. We report on a patient receiving nilotinib for CML. The patient had no previous neurologic deficits, and developed intermittent dystonic posturing of the left upper extremity and cognitive impairment after she began nilotinib treatment. The mechanisms behind this adverse effect are not clear; however, her symptoms began after nilotinib was introduced, decreased with dose reduction, stopped with its cessation, and re-emerged when the medication was restarted. To our knowledge, this is the first reported patient with neurologic symptoms secondary to nilotinib use.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"72 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2019-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74034111","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}