Todd D Rozen, Z. Devcic, B. Toskich, D. Fairweather, K. A. Bruno
{"title":"A Possible Newly Defined and Treatable Secondary Cause of Early Morning Wake-Up Headaches in an Older Hypermobile Woman: Nutcracker Physiology with Spinal Epidural Venous Congestion","authors":"Todd D Rozen, Z. Devcic, B. Toskich, D. Fairweather, K. A. Bruno","doi":"10.1159/000537705","DOIUrl":"https://doi.org/10.1159/000537705","url":null,"abstract":"Introduction\u0000Left renal vein compression (nutcracker physiology) with secondary spinal epidural venous congestion is a newly recognized cause of daily persistent headache. Presently only women with underlying symptomatic hypermobility issues appear to develop headache from this anatomic issue. The hypothesized etiology is an abnormal reset of the patient’s cerebrospinal fluid (CSF) pressure to an elevated state. Headaches that occur during sleep can have a varied differential diagnosis, one of which is elevated CSF pressure. We present the case of an older woman who began to develop severe wake-up headaches at midnight. She was found to have left renal vein compression and spinal epidural venous congestion on imaging. After treatment with lumbar vein coil embolization, which alleviated the spinal cord venous congestion, her headaches alleviated.\u0000Case Presentation \u0000 A 61-year-old woman with a history of hypermobile Ehlers-Danlos syndrome, began to be awakened with severe head pain at midnight at least several times per week. The headache was a holocranial, pressure sensation, which worsened in the supine position. The headaches were mostly eliminated with acetazolamide. Because of her hypermobility issues and pressure-like headache she was investigated for underlying nutcracker physiology and spinal epidural venous congestion. This was confirmed using magnetic resonance (MR) angiography and conventional venography, and after lumbar vein coil embolization her wake-up headaches ceased. \u0000Conclusion\u0000The case report suggests a possible new underlying and treatable cause for early morning, wake-up, headaches: nutcracker physiology with secondary spinal epidural venous congestion. The case expands on the clinical headache presentation of nutcracker physiology. \u0000","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139796483","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}
Ioannis Karafyllis, J. Nuoffer, Joan-Philipp Michelis, Lara Chilver-Stainer
{"title":"Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report.","authors":"Ioannis Karafyllis, J. Nuoffer, Joan-Philipp Michelis, Lara Chilver-Stainer","doi":"10.1159/000536679","DOIUrl":"https://doi.org/10.1159/000536679","url":null,"abstract":"Introduction: Identifying the underlying etiology of nonfamilial adult-onset progressive cerebellar ataxia is often challenging because neurologists must consider almost all nongenetic and genetic causes of ataxia. Case Presentation: A 39-year-old woman was hospitalized for progressive ataxia with pyramidal and cognitive dysfunction after a right arm shaking and coordination problem deteriorated progressively over 1.5 years. The patient's medical history included amenorrhea, cataracts, developmental delays, consanguinity of the parents, motor coordination issues, and diarrhea and vomiting in infancy. An important finding that enabled us to solve the diagnostic conundrum was the elevated CDT levels in the lack of alcohol-related symptoms, which also occur in untreated carbohydrate metabolism disorders, sometimes with ataxia as a leading symptom. The decreased erythrocyte galactose-1-phosphate uridyltransferase (GALT) enzyme activity and the elevated erythrocyte galactose-1-phosphate (Gal-1P) concentration led to the final diagnosis of galactosemia, a rare metabolic disorder. The patient's condition stayed stable with strict adherence to lactose-free and galactose-restricted diets, regular physiotherapy, and speech therapy, despite attempts to control the crippling tremor. Conclusion: This case highlights the importance of considering rare diseases based on unexplained clinical and laboratory findings. Newborn screening does not change the long-term complications of early-treated classical galactosemia. A small percentage of these patients develop ataxia tremor syndrome.","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139857921","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}
Todd D Rozen, Z. Devcic, B. Toskich, D. Fairweather, K. A. Bruno
{"title":"A Possible Newly Defined and Treatable Secondary Cause of Early Morning Wake-Up Headaches in an Older Hypermobile Woman: Nutcracker Physiology with Spinal Epidural Venous Congestion","authors":"Todd D Rozen, Z. Devcic, B. Toskich, D. Fairweather, K. A. Bruno","doi":"10.1159/000537705","DOIUrl":"https://doi.org/10.1159/000537705","url":null,"abstract":"Introduction\u0000Left renal vein compression (nutcracker physiology) with secondary spinal epidural venous congestion is a newly recognized cause of daily persistent headache. Presently only women with underlying symptomatic hypermobility issues appear to develop headache from this anatomic issue. The hypothesized etiology is an abnormal reset of the patient’s cerebrospinal fluid (CSF) pressure to an elevated state. Headaches that occur during sleep can have a varied differential diagnosis, one of which is elevated CSF pressure. We present the case of an older woman who began to develop severe wake-up headaches at midnight. She was found to have left renal vein compression and spinal epidural venous congestion on imaging. After treatment with lumbar vein coil embolization, which alleviated the spinal cord venous congestion, her headaches alleviated.\u0000Case Presentation \u0000 A 61-year-old woman with a history of hypermobile Ehlers-Danlos syndrome, began to be awakened with severe head pain at midnight at least several times per week. The headache was a holocranial, pressure sensation, which worsened in the supine position. The headaches were mostly eliminated with acetazolamide. Because of her hypermobility issues and pressure-like headache she was investigated for underlying nutcracker physiology and spinal epidural venous congestion. This was confirmed using magnetic resonance (MR) angiography and conventional venography, and after lumbar vein coil embolization her wake-up headaches ceased. \u0000Conclusion\u0000The case report suggests a possible new underlying and treatable cause for early morning, wake-up, headaches: nutcracker physiology with secondary spinal epidural venous congestion. The case expands on the clinical headache presentation of nutcracker physiology. \u0000","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139856174","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}
Robert Yarham, Rudy Goh, Eamon P Raith, Krishnaswamy Sundararajan, Timothy Kleinig
{"title":"Disseminated Aspergillosis with Mediastinal Invasion Causing Fatal Stroke in an Immunocompetent Young Man.","authors":"Robert Yarham, Rudy Goh, Eamon P Raith, Krishnaswamy Sundararajan, Timothy Kleinig","doi":"10.1159/000536594","DOIUrl":"10.1159/000536594","url":null,"abstract":"<p><strong>Introduction: </strong><i>Aspergillus flavus</i> is a common cause of aspergillosis.</p><p><strong>Case presentation: </strong>A previously fit and well, immunocompetent 27-year-old male living in Australia developed disseminated <i>A. flavus</i> complex infection with mediastinal and cardiac invasion, superior vena cava obstruction and stroke, with fatal haemorrhagic transformation.</p><p><strong>Conclusion: </strong><i>Aspergillus Flavus</i> is a rare but important cause of serious disease in the immunocompetent.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10914378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140038746","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":"Migraine Symptoms Induced by an Auricular Piercing in a 27-Year-Old Female: A Case Report.","authors":"Sophia Uddin, Jordan Terry","doi":"10.1159/000536132","DOIUrl":"10.1159/000536132","url":null,"abstract":"<p><strong>Introduction: </strong>Migraines are common and debilitating, and have high direct and indirect costs. They can be difficult to treat, and many patients make use of alternative medicine techniques. One of these is acupuncture applied to locations on the auricle thought to modulate migraine symptoms. Some patients obtain piercings in these locations in hopes of relieving their symptoms; however, the literature does not address the possibility of migraine symptoms being worsened or even induced by such piercings.</p><p><strong>Case presentation: </strong>We present a case of a 27-year-old female with a history of transient hemiplegia without headaches who developed headaches, visual disturbances, and nausea after a piercing of the inferior crus of her left antihelix (known as a rook piercing). No abnormalities were found on workup, and symptoms were treated with supportive care. After removing the piercing 9 months later, the patient's symptoms resolved.</p><p><strong>Conclusion: </strong>The mechanism linking the piercing with the migraine symptoms is unclear, but may involve modulation of trigeminal or vagal pain pathways, as both of these cranial nerves innervate this area of the auricle. Regardless, in patients presenting with migraine symptoms, history and physical exam should not overlook piercings as potential contributory factors.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10849747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139701948","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 First Case of Acute Flaccid Myelitis Related to Enterovirus D68 in Belgium: Case Report.","authors":"Marine Rodesch, Claudine Sculier, Valentina Lolli, Gauthier Remiche, Iris Delpire, Christophe Fricx, Françoise Vermeulen, Florence Christiaens","doi":"10.1159/000535316","DOIUrl":"https://doi.org/10.1159/000535316","url":null,"abstract":"<p><strong>Introduction: </strong>We describe the first case of acute flaccid myelitis (AFM) related to enterovirus D68 (EV-D68) infection in Belgium. The clinical and radiological presentation of AFM associated with EV-D68 although well described currently remains a challenging diagnosis. Through this interesting clinical case, we aimed to review the differential diagnosis of acute flaccid palsy in a child and discuss the specific point of interest related to AFM.</p><p><strong>Case presentation: </strong>We present the case of a 4-year-old girl with a torticollis associated with an acute palsy of the right upper limb. The magnetic resonance imaging revealed an increased T2 signal intensity of the entire central gray matter of the cervical cord with involvement of the posterior brainstem. A polymerase chain reaction (PCR) conducted on a nasopharyngeal swab was found positive for EV-D68. The definition of AFM proposed by the Center for Disease Control and Prevention (CDC) is an acute-onset flaccid weakness of one or more limbs in the absence of a clear alternative diagnosis and the radiological evidence of gray matter involvement on an MRI picture, and our case fits these two criteria. A prompt and detailed workup is required to distinguish this emergent disease from other forms of acute flaccid palsy. The functional prognosis of AFM is poor, and there are no evidence-based treatment guidelines so far.</p><p><strong>Conclusion: </strong>AFM is an emerging pathology that requires the attention of pediatricians to quickly rule out differential diagnoses and adequately manage the patient. Further research is needed to optimize treatments, improve outcomes, and provide scientifically based guidelines.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10890805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139971089","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":"Highly Active Relapsing-Remitting Multiple Sclerosis with Neurofibromatosis Type 1: Radiological Aspects and Therapeutic Challenges - Case Report.","authors":"Marios Lemonaris, Kleopas A Kleopa","doi":"10.1159/000536463","DOIUrl":"https://doi.org/10.1159/000536463","url":null,"abstract":"<p><strong>Introduction: </strong>Multiple sclerosis (MS) is an autoimmune neurodegenerative disease which can rarely co-exist with neurofibromatosis 1 (NF1), a neurocutaneous inherited disorder that predisposes to oncogenesis. Patients who suffer from both conditions can be challenging cases for clinicians, as clinical symptoms and radiological findings may overlap, while MS immune-modifying treatments could further increase the risk of oncogenesis.</p><p><strong>Case presentation: </strong>In this study, we describe the case of a 27-year-old woman who presented with signs and symptoms of optic neuritis and was then diagnosed with both MS and NF1. As the patient continued to experience MS relapses despite initial interferon-beta treatment, she was subsequently switched to natalizumab and responded well.</p><p><strong>Conclusion: </strong>This case illustrates how MRI lesion differentiation with the co-existence of MS and NF1 can be difficult due to overlaps in lesion characteristics, while treatment decisions can be challenging mainly due to scarce data on the oncogenic risk of MS immunomodulary therapies. Therefore, clinicians need to balance out the risk of malignancy development with the risk of progressive neurological disability when treating such patients.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10890804/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139975486","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}
Khaled W. Sadek, Mohamed A. Atta, Najwa Y. Sultan, Anas A. Ashour
{"title":"Tuberculous Meningitis Presenting with Bilateral Optic Neuritis: A Case Report and Review of Literature","authors":"Khaled W. Sadek, Mohamed A. Atta, Najwa Y. Sultan, Anas A. Ashour","doi":"10.1159/000536086","DOIUrl":"https://doi.org/10.1159/000536086","url":null,"abstract":"Introduction: Tuberculosis (TB) is a major global cause of morbidity and mortality. Tuberculous meningitis (TBM) is an implication of systemic dissemination of a primary TB infection that indicates a poorer disease prognosis with various long term neurological sequalae. Consequently, it is crucial to understand different clinical presentations and manifestations of such condition. In TBM, vision loss, which is one of the most devastating complications, may result from optic nerve inflammation and atrophy. Although unilateral optic neuritis as a primary presenting symptom of TBM has been broadly reported in the literature, there is paucity of information related to several other rare neuro-ophthalmic features, such as bilateral optic nerve involvement in TBM.\u0000Case presentation: We herein present a case of a 37 years-old Indian male patient presenting with unilateral vision loss that subsequently progressed to bilateral vision loss and was hence diagnosed with bilateral optic neuritis. Additional thorough investigation yielded a diagnosis of TBM with underlying tuberculomas. The patient’s condition improved afterwards with anti-tuberculous therapy and steroids with a follow up magnetic resonance imaging indicating radiological resolution as well. \u0000Conclusion: The differential diagnosis of bilateral optic neuritis is broad but a rare, yet an overlooked one would be central nervous system TB in form of meningitis or tuberculoma. Hence, it is important to identify bilateral optic neuritis as a possible rare presenting symptom of an underlying central nervous system TB infection which could lead to a faster disease diagnosis and treatment to prevent its devastating complications. \u0000","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139443750","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}
Xiaoshan Gao, Tianhong Wang, Jun Chen, Jiangjun Chen, Ying Wang, Kui Yang, Youquan Gu, Lihe Yao
{"title":"Posterior circulation mechanical thrombectomy through primitive trigeminal artery: A case report","authors":"Xiaoshan Gao, Tianhong Wang, Jun Chen, Jiangjun Chen, Ying Wang, Kui Yang, Youquan Gu, Lihe Yao","doi":"10.1159/000535871","DOIUrl":"https://doi.org/10.1159/000535871","url":null,"abstract":"Introduction: Primitive trigeminal artery (PTA) is a rare intracranial vascular malformation, and mechanical thrombectomy and revascularization via PTA are rarely reported. \u0000Case presentation: We reported a case of mechanical thrombectomy through PTA in a patient who presented with sudden slurred speech and had a National Institutes of Health Stroke Scale score of 12. Digital subtraction angiography of the cerebral vasculature showed PTA formation in the right internal carotid artery cavernous segment, with acute occlusion of the distal basilar artery at the PTA junction, and bilateral vertebral arteries and proximal basilar artery were underdeveloped. Therefore, we chose mechanical thrombectomy via PTA; but unfortunately, the vessel failed to recanalize. Follow-up at 1 month post-procedure indicated that the patient had passed away. We present the endovascular process and analyze and summarize the reasons for the failure to provide a reference for subsequent mechanical thrombectomy via PTA. \u0000Conclusions: PTA increases the risk of ischemic stroke and adds to the complexity of mechanical thrombectomy post-stroke. However, in certain situations, PTA can be used as a thrombectomy channel to increase the first-line possibility of timely endovascular treatment to save ischemic brain tissue.\u0000","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139452511","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}
{"title":"Early Manifestation of Benign Paroxysmal Positional Vertigo: A Case Report","authors":"Matyas Ebel, Alena Jahodova, Jaroslav Jeřábek","doi":"10.1159/000535550","DOIUrl":"https://doi.org/10.1159/000535550","url":null,"abstract":"we report a case of a 4.5-month-old infant with paroxysmal horizontal nystagmus, provoked by positioning. The clinical findings and successful resolution with repositioning manoeuvres indicate a diagnosis of right lateral semicircular canal lithiasis. This case report contributes to the existing literature by describing BPPV in the youngest age group, as no patients under 5 years have been previously reported. In order to document the case we also present a semi-automatic video analysis pipeline for analyzing abnormal eye movements in a home setting.","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138590189","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}