Emerging Neurologist
https://emerging-neurologist.org/
<p><span style="font-weight: 400;">Emerging Neurologist is the journal of the Fédération Internationale des Jeunes Neurologues Francophones (FIJNF). It is a diamond open access and double blind peer-reviewed journal: all the articles are published under a CC-BY license and no fee will be charged for submission and publication (no article processing charges). Emerging Neurologist publishes scientific articles, written by at least one junior neurologist (Resident or Clinic Head Assistant). The journal is hosted by Université Paris Cité.</span></p>Université Paris CitéenEmerging Neurologist2967-767XThe insidious presentation and clinical polymorphism of neurobrucellosis: About two case reports
https://emerging-neurologist.org/article/view/37
<p><strong>Introduction.</strong> Even though it is rare, neurobrucellosis is characterized by broad clinical and imaging features. The diagnosis is often late at the cost of irreversible neurological sequelae.</p> <p><strong>Case report.</strong> We report two cases of neurobrucellosis. The first case is a 29-year-old man with chronic headache, radiculopathy and diplopia. The second case is a 26-year-old man who presented a progressive gait disturbance and hearing loss. In both cases, magnetic resonance imaging revealed leptomeningeal gadolinium enhancement and the second case had additional bilateral hypersignal of the acoustic-facial bundle. Cerebrospinal fluid analysis showed a positive culture for Brucella and elevated titers of anti-Brucella antibodies. Both patients received combined antibiotic therapy without significant improvement.</p> <p><strong>Conclusion.</strong> Our cases highlight the importance of considering Brucella infection in patients with unexplained neurological symptoms in endemic regions, even in the absence of infection symptoms.</p>
Case reportsneurobrucellosismeningo-radiculary neuropathyvestibulo-cochlear nerve impairmentNesrine GhedamsiHajer DerbaliInes BedouiMeriam MesselmaniNajiba Fekih-MrissaRidha Mrissa
Copyright (c) 2023 the Author(s)
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2023-05-312023-05-311410.53480/emerg-neurol.61e1Reversible splenial lesion of the corpus callosum secondary to severe intracranial hypertension in children: a case report
https://emerging-neurologist.org/article/view/43
<p><strong>I</strong><strong>ntroduction. </strong>Reversible lesions in the splenium of the corpus callosum are a recognized radio-clinical entity, which is rarely associated with idiopathic intracranial hypertension, especially in children. We present a case.</p> <p><strong>Case report. </strong>We describe the case of an 11-year-old prepubescent female patient with no significant medical history. She presented with idiopathic intracranial hypertension syndrome and exhibited a nodular lesion in the splenium of the corpus callosum on the MRI scan. Initial medical treatment with acetazolamide and a subtractive lumbar puncture failed to improve the patient's condition. Consequently, an emergency ventriculoperitoneal shunt procedure was performed, resulting in a favorable clinical outcome. A follow-up MRI was conducted six months later, revealing normalization of the imaging results.</p> <p><strong>Conclusion. </strong>Further studies are needed to understand the pathophysiology of reversible lesions in the splenium of the corpus callosum during idiopathic intracranial hypertension.</p>
Case reportsidiopathic intracranial hypertensionreversible splenial lesion syndromelumbar punctureKamal HaddoualiLynn SameSalma BellakhdarHicham El OtmaniMohammed Abdoh RafaBouchra El Moutawakil
Copyright (c) 2023 the Author(s)
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2023-10-112023-10-11101210.53480/emerg-neurol.dc16The importance of functional analysis: a cautionary case of cerebellar ataxia
https://emerging-neurologist.org/article/view/51
<p><strong>Introduction.</strong> Cerebellar ataxias are a heterogeneous group of disorders with various cerebellar and extracerebellar manifestations. The underlying aetiology in early-onset, progressive, sporadic ataxia, is often autosomal recessive cerebellar ataxia (ARCA). The advent and rapid clinical integration of next-generation sequencing (NGS) has made it increasingly possible to provide a genetic diagnosis for patients with suspected ARCA. However, one of the greatest challenges of NGS is the interpretation and reclassification of variants of uncertain significance (VUS).</p> <p><strong>Case report.</strong> Ataxia telangiectasia was suspected due to progressive teenage-onset ataxia in a 42-year-old woman with a history of breast cancer, ovarian mass, and elevated alpha-fetoprotein and CA-125. ATM sequencing demonstrated a homozygous missense VUS. However, functional studies clarified that this VUS was not pathogenic, but there was reduction in senataxin. This enabled clarification that the diagnosis was ataxia with oculomotor apraxia type 2.</p> <p><strong>Conclusion.</strong> Our case highlights the importance of functional studies, where possible, to enable reclassification of VUSs.</p>
Case reportsataxiaDNA mutational analysisataxia telangiectasia mutated (ATM) proteinsenataxin (SETX)biomarkersPoornima Jayadev MenonPetya Bogdanova-MihaylovaAndrew GreenKenneth SmithLaura Yarram-SmithMalcolm TaylorPhilip ByrdHarpreet DibraRichard A. WalshSinead M. Murphy
Copyright (c) 2023 the Author(s)
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2023-09-072023-09-075910.53480/emerg-neurol.2e8f