Albert E Telfeian, Adetokunbo Oyelese, Jared Fridley, Rohaid Ali, Deus Cielo, Ziya L Gokaslan
{"title":"A Transforaminal Endoscopic Surgical Technique for Treating Lumbar Disc Herniation in the Setting of Spina Bifida.","authors":"Albert E Telfeian, Adetokunbo Oyelese, Jared Fridley, Rohaid Ali, Deus Cielo, Ziya L Gokaslan","doi":"10.1155/2020/1076847","DOIUrl":"https://doi.org/10.1155/2020/1076847","url":null,"abstract":"<p><p>Recent literature suggests that adult patients with spina bifida receive surgery for degenerative disc disease at higher rates than the general population. However, sometimes the complex anatomic features of co-occurring spina bifida and lumbar disc herniation can significantly challenge standard surgical techniques. Here, the technical steps are presented for treating a foraminal lumbar 4-5-disc herniation in the setting of a patient with multifaceted degenerative and spina bifida occulta anatomy. Utilized is a minimally invasive approach that does not require general anesthesia or fusion and allows the patient to leave the same day. To the best of our knowledge, this is the first-reported case of endoscopic surgical decompression of a lumbar disc in a patient with spina bifida.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"1076847"},"PeriodicalIF":0.9,"publicationDate":"2020-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/1076847","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37788638","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":"Comment on \"CPEO and Mitochondrial Myopathy in a Patient with <i>DGUOK</i> Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions\".","authors":"Josef Finsterer","doi":"10.1155/2020/5846971","DOIUrl":"https://doi.org/10.1155/2020/5846971","url":null,"abstract":"","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"5846971"},"PeriodicalIF":0.9,"publicationDate":"2020-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/5846971","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37849633","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}
Josef Finsterer, Michael Winklehner, Claudia Stöllberger, Thomas Hummel
{"title":"Unusual Phenotype and Disease Trajectory in Kearns-Sayre Syndrome.","authors":"Josef Finsterer, Michael Winklehner, Claudia Stöllberger, Thomas Hummel","doi":"10.1155/2020/7368527","DOIUrl":"10.1155/2020/7368527","url":null,"abstract":"<p><strong>Objective: </strong>To describe unusual course and unusual phenotypic features in an adult patient with Kearns-Sayre syndrome (KSS). <i>Case Report</i>. The patient is a 49-year-old male with KSS, diagnosed clinically upon the core features, namely, onset before the age 20 of years, pigmentary retinopathy, and ophthalmoparesis, and the complementary features, namely, elevated CSF protein, cardiac conduction defects, and cerebellar ataxia. The patient presented also with other previously described features, such as diabetes, short stature, white matter lesions, hypoacusis, migraine, hepatopathy, steatosis hepatis, hypocorticism (hyponatremia), and cataract. Unusual features the patient presented with were congenital anisocoria, severe caries, liver cysts, pituitary enlargement, desquamation of hands and feet, bone chondroma, aortic ectasia, dermoidal cyst, and sinusoidal polyposis. The course was untypical since most of the core phenotypic features developed not earlier than in adulthood.</p><p><strong>Conclusions: </strong>KSS is a multisystem disease, but the number of tissues affected is higher than so far anticipated. KSS should be considered even if core features develop not earlier than in adulthood and if unusual features accompany the presentation.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"7368527"},"PeriodicalIF":0.9,"publicationDate":"2020-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/7368527","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37743726","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}
Jasmine Shimin Koh, James Wei Min Tung, Genevieve Lynn Yu Tan-Yu, Thirugnanam Umapathi
{"title":"Early Aggressive Immunotherapy Improves Functional Outcome in Chronic Immune Sensory Polyradiculopathy.","authors":"Jasmine Shimin Koh, James Wei Min Tung, Genevieve Lynn Yu Tan-Yu, Thirugnanam Umapathi","doi":"10.1155/2020/6595086","DOIUrl":"https://doi.org/10.1155/2020/6595086","url":null,"abstract":"<p><p>Chronic immune sensory polyradiculopathy (CISP) is an uncommon and treatable inflammatory disorder of the proximal sensory nerve roots. Patients typically present with severe sensory ataxia, normal motor examination, unsteady gait, and normal nerve conduction studies (NCS). We describe an elderly man who presented with a two-week history of progressive numbness of both legs and recurrent falls. He had hyporeflexia, normal strength, severe proprioceptive, and vibration sense loss in both lower limbs and was unable to stand or walk because of severe sensory ataxia. The NCS and MR scan of the spine were normal. Tibial somatosensory evoked potentials revealed proximal conduction defect and localized the pathology to the lumbar sensory nerve roots proximal to the dorsal root ganglion. Cerebrospinal fluid showed cytoalbuminergic dissociation suggestive of inflammation. CISP was diagnosed; he was given aggressive immunotherapy consisting sequentially of corticosteroids with mycophenolate mofetil and three cycles of intravenous immunoglobulin after which he regained independent mobility. Unlike previous reports where patients presented months-years after symptom onset and improved after single-line immunotherapy, our patient presented fairly acutely and made dramatic improvement only after aggressive combination therapy. We urge physicians to recognize this uncommon neurologic cause of sensory ataxia where early aggressive treatment is crucial for better functional outcomes.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"6595086"},"PeriodicalIF":0.9,"publicationDate":"2020-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/6595086","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37718730","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":"Immediate Response to Chemotherapy in an Adult Neuroblastoma Patient Presenting with Cord Compression.","authors":"Nedal Bukhari, Bachar Harfouch, Majid Shallal Alotaibi, Hulayel Al-Harbi, Omar Chamdine","doi":"10.1155/2020/6401497","DOIUrl":"https://doi.org/10.1155/2020/6401497","url":null,"abstract":"<p><p>We report a case of a 31-year-old female patient with high-risk neuroblastoma (NBL) who presented with a history of static back pain and bilateral lower limb weakness for almost a month. Her primary tumor was located in the right paraspinal region, causing spinal cord compression (SCC). Chemotherapy was administered with an immediate clinical improvement noted after 24 hours of starting treatment. We herein report the efficacy of chemotherapy in an adult neuroblastoma (aNBL) patient presenting with spinal cord compression.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"6401497"},"PeriodicalIF":0.9,"publicationDate":"2020-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/6401497","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37718729","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 Patient with Combined CADASIL and MTHFR Homozygosity.","authors":"Sidonie Ibrikji, Tarek El Halabi, Bassem Yamout","doi":"10.1155/2020/4980847","DOIUrl":"https://doi.org/10.1155/2020/4980847","url":null,"abstract":"<p><p>Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited disorder caused by a mutation in the NOTCH 3 gene, characterized by early onset of subcortical lacunar infarcts in the absence of vascular risk factors and cerebral microbleeds. Homozygosity for the factor Methylenetetrahydrofolate Reductase (MTHFR) is also associated with lacunar stroke risk and cerebral small-vessel disease regardless of the homocysteine level. The coexistence of MTHFR C677T homozygosity and NOTCH 3 mutation has never been reported in the literature previously, and that brings up the challenge of antithrombotic treatment in the presence of cerebral microbleeds.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"4980847"},"PeriodicalIF":0.9,"publicationDate":"2020-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/4980847","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37702865","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":"Efficacy of Tocilizumab in Limbic Encephalitis with Anti-CASPR2 Antibodies.","authors":"Maurizio Benucci, Luciana Tramacere, Maria Infantino, Mariangela Manfredi, Valentina Grossi, Arianna Damiani, Francesca Li Gobbi, Maristella Piccininni, Gaetano Zaccara, Massimo Cincotta","doi":"10.1155/2020/5697670","DOIUrl":"https://doi.org/10.1155/2020/5697670","url":null,"abstract":"<p><p>We report the case of a 64-year-old man who presented with subacute memory, balance impairment, behavioral and mood changes, and epileptic seizures. Magnetic resonance imaging (MRI) showed bilateral hippocampal abnormalities. Brain [<sup>18</sup>F]-FDG fluorodeoxyglucose positron emission tomography (PET) revealed hypometabolism in both the temporal lobe as well as in the left insular and parietal regions. The clinical and neuroradiological picture and the detection of anti-CASPR2 antibodies in serum oriented the diagnosis towards autoimmune limbic encephalitis. Intravenous high-dose steroid and immunoglobulin treatments were ineffective. We did not use rituximab for the presence of antibodies to HbcAg positivity. Tocilizumab given intravenously 8 mg/kg once a month for six months and then subcutaneously 162 mg every week for six months resulted in clinical and neuroradiological improvement. These data support the efficacy of tocilizumab in autoimmune limbic encephalitis associated with anti-CASPR2 antibodies, which has been sporadically reported in the literature.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"5697670"},"PeriodicalIF":0.9,"publicationDate":"2020-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/5697670","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37687570","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}
Maria das Dores Medina-Lopes, Luiz Augusto Casulari
{"title":"Treatment of a Woman with Inoperable Meningioma Using Mifepristone for 26 Years.","authors":"Maria das Dores Medina-Lopes, Luiz Augusto Casulari","doi":"10.1155/2020/5162918","DOIUrl":"10.1155/2020/5162918","url":null,"abstract":"<p><p>Meningioma treatment includes observation of its growth or surgery with or without associated radiotherapy. However, drug treatment can be used for tumors deemed inoperable because of their size and location. Due to the presence of progesterone receptors, the use of antiprogestin mifepristone is recommended. This study describes a case of inoperable meningioma treated with mifepristone for 26 years without interruption. The patient is a 45-year-old woman diagnosed with plaque meningioma, extending from the bottom of her right orbit, through the length of the small wing of the sphenoid, part of the large wing of the sphenoid, especially near the superior orbital fissure, and at the ceiling of the orbit. As this meningioma was considered inoperable, treatment with 200 mg oral mifepristone was administered uninterruptedly for 26 years. This treatment initially halted the growth of the meningioma and subsequently resulted in a small reduction of its volume; however, the meningioma has persisted until the last evaluation. After five years of mifepristone use, hydroxyurea was added for nine months but was discontinued due to anemia and leucopenia. In conclusion, mifepristone was useful for the survival of the patient for those 26 years. The drug interfered with the natural history of the meningioma, which generally evolves to death in such long follow-up durations without associated surgery or radiation therapy.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"5162918"},"PeriodicalIF":0.9,"publicationDate":"2020-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7036131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37674243","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}
Jehad Zakaria, Pravesh Saini, Mariya Yanovskaya, John T Tsiang, Krishnan Ravindran, Stephen Johans, Chirag R Patel, Anand V Germanwala
{"title":"Endoscopic Endonasal Resection of Meckel's Cave Epidermoid Cysts: Case Discussion and Literature Review.","authors":"Jehad Zakaria, Pravesh Saini, Mariya Yanovskaya, John T Tsiang, Krishnan Ravindran, Stephen Johans, Chirag R Patel, Anand V Germanwala","doi":"10.1155/2020/7853279","DOIUrl":"https://doi.org/10.1155/2020/7853279","url":null,"abstract":"<p><p>Meckel's cave (MC) epidermoid cysts are relatively uncommon lesions. In cases where surgical excision is indicated, resection is often carried out via a frontosphenotemporal craniotomy from an anterolateral approach or a temporal craniotomy with or without a petrosectomy for a lateral corridor; both of these routes are associated with brain retraction and potential neurovascular injury. The anterior location of MC in the middle cranial fossa makes safe access via posterior fossa-based approaches-such as the retrosigmoid approach-challenging as well. Here, we present the cases of two patients diagnosed with epidermoid cysts in MC who underwent surgical resection via an endoscopic endonasal transpterygoid approach. Near-total resection was achieved in both cases, with only mild transient neurologic disturbances postoperatively. Radiographically, no evidence of residual disease was noted in either patient. We further review the nuances of an extended endoscopic endonasal approach to these lesions.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"7853279"},"PeriodicalIF":0.9,"publicationDate":"2020-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/7853279","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37670582","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}
Sigge Weisdorf, Ivan C Zibrandtsen, Troels W Kjaer
{"title":"Subcutaneous EEG Monitoring Reveals AED Response and Breakthrough Seizures.","authors":"Sigge Weisdorf, Ivan C Zibrandtsen, Troels W Kjaer","doi":"10.1155/2020/8756917","DOIUrl":"https://doi.org/10.1155/2020/8756917","url":null,"abstract":"<p><p>Unrecognized seizures are a common problem in temporal lobe epilepsy potentially leading to undertreatment. Objective seizure counting using EEG home monitoring for prolonged periods with a minimally invasive device has not been feasible until now. We present a case in which a novel, subcutaneous EEG device was utilized to provide an objective seizure count. This information revealed unrecognized breakthrough seizures and informed treatment response, prompting treatment adjustment. The case illustrates how objective seizure counting in epilepsy using new devices can completely change diagnosis and management.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"8756917"},"PeriodicalIF":0.9,"publicationDate":"2020-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8756917","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37664924","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}