eNeurologicalScieNeurologicalSci Vol 14

March 2019 | Pages 1-106

Review Article

Late onset adrenoleukodystrophy: A review related clinical case report

Santiago Paláu-Hernández, Ildefonso Rodriguez-Leyva, Juan Manuel Shiguetomi-Medina

  • Pages 62-67
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  • Abstract

    Our objective is to review the initial presentation, evolution, progression, final stage, and images in the follow up of an adult patient who presented an uncommon peroxisomal disease (1/20,000 males) that occurred by ABCD1 gene mutation in the Xq28 chromosome; to bring forward the imaging features (which nowadays is the most useful and accessible diagnostic tool) and clinical presentation of adrenoleukodystrophy in adulthood; to propose a differential diagnosis in aid of a prompt recognition of the disease hereafter from a neurologist approach.

    In relation of a clinical case we reviewed the literature to correlate the principal findings and evolution of the disease. This thrilling but at the same time unfortunate disease is not only a diagnostic problem is also a therapeutic quest besides all the related familial, labor, and social related problems.

    The very-long chain fatty acids (VLCFA) accumulation leads to a not completely understood mechanisms that precipitate the specific malfunction of the nervous system and adrenal gland. The initial corticospinal bilateral involvement provokes a spastic paraparesis but with the affection of others pathways multiple manifestations appears, with dementia and finally loss of the most of cortical functions secondary to the white matter affection. Since the hematopoietic stem cell transplantation can be treated with variable results, other treatments, as the Lorenzo's oil, have not been consistent with a substantial improvement of the affected individual. The genetic advice and support to the patient and the family are essentials as well as the screening in individuals at risk before the onset of the disease.

 

Original Articles

Misdiagnosis: Hypoglossal palsy mimicking bulbar onset amyotrophic lateral sclerosis

Eric D. Goldstein, Benjamin H. Eidelman

  • Pages 6-8
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  • Abstract

    Bulbar onset amyotrophic lateral sclerosis (bALS) is a currently incurable neurodegenerative condition characterized by insidious progression of bulbar muscle paresis; namely dyspnea, dysarthria, and dysphagia. The diagnosis of bALS requires exclusion of mimicking pathologies as the diagnosis of bALS may have significant implications on patients' quality of life, future planning, and familial/social dynamics. Herein we present two cases which were misdiagnosed as bALS when in fact a structural lesion of the hypoglossal nerve was causative. This article may serve as a reminder to entertain alternative diagnoses prior to arriving at a diagnosis of bALS.


Neuroprotective role of vitamin D in primary neuronal cortical culture

Reham AlJohri, Majid AlOkail, Samina Hyder Haq

  • Pages 43-48
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  • Abstract

    A role of Vitamin D in brain development and function has been gaining support over the last decade. There are compelling pieces of evidence that suggest vitamin D may have a neuroprotective role. The administration of vitamin D or its metabolites has been shown to reduce neurological injury and/or neurotoxicity in a variety of animal systems. The detail biochemical mechanism mediating neurons, to its ability to withstand greater oxidative stress in the presence of Vitamin D is unclear. This study was undertaken to study the biochemical effect of treatments of primary cortical neuronal cultures, with the active form of vitamin D(1,25(OH)2D3), against the induced oxidative stress.

    Conclusion

    We concluded that the systemic treatment of primary neuronal cultures with [1,25(OH)2D3] gave better protection to neurons against the induced oxidative stress, as shown by quantitative measurements of various biomarkers of oxidative stress. This study also suggested that Vitamin D is vital for the growth, survival, and proliferation of the neurons and hence it has a potential therapeutic role against various neurodegenerative diseases.


Characterization of seizures (ILAE 1981 and 2017 classifications) and their response to treatment in a cohort of patients with glial tumors: A prospective single center study

Ignacio Casas Parera, María A. Gonzalez Roffo, Alejandra Báez, Fernando Quintans, ... María C. Sánchez Retamar


Evaluation of cerebral blood flow in older patients with status epilepticus using arterial spin labeling

Tatsuya Ueno, Tamaki Kimura, Yukihisa Funamizu, Tomoya Kon, ... Masahiko Tomiyama

  • Pages 56-59
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  • Abstract

    Although older patients with status epilepticus (SE) have a high mortality rate and poor outcome, it is difficult to perform emergent electroencephalography (EEG) to diagnose SE in community hospitals. Arterial spin labeling (ASL) is a non-invasive magnetic resonance imaging (MRI) technique that can rapidly assess cerebral blood flow (CBF). Further, ASL can detect increased CBF in the ictal period. Therefore, ASL may be a useful tool for diagnosing SE in older patients. However, its effectiveness in this population is unknown.

    Conclusions

    ASL did not detect a higher rate of CBF abnormalities in older patients, but may help physicians diagnose SE in older patients in a community hospital setting if emergent EEG cannot be immediately performed.


Stroke onset to needle delay: Where these golden hours are lost? An Egyptian center experience

Wafik Said Bahnasy, Osama Abd Allah Ragab, Mahmoud Ebrahim Elhassanien

  • Pages 68-71
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  • Abstract

    The use of intravenous recombinant tissue plasminogen activator (IV r-tPA) in early acute ischemic stroke (AIS) management faces a lot of difficulties in developing countries due to lessened guideline development with consecutive pre- and intra-hospital delay.

    The objective was to identify the barriers facing proper utilization of IV r-tPA for AIS in Tanta University Hospitals.

    Conclusion

    Increasing the chance of utilizing IV r-tPA for AIS patients' needs regular updating of the stroke chain of survival system to get the highest benefits from the available resources.


Thrombogenicity assessment of Pipeline, Pipeline Shield, Derivo and P64 flow diverters in an in vitro pulsatile flow human blood loop model

Gaurav Girdhar, Samantha Ubl, Reza Jahanbekam, Sinduja Thinamany, ... Michael F. Wolf

  • Pages 77-84
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  • Abstract

    Flow diversion is a disruptive technology for the treatment of intracranial aneurysms. However, these intraluminal devices pose a risk for thromboembolic complications despite dual antiplatelet therapy. We report the thrombogenic potential of the following flow diversion devices measured experimentally in a novel human blood in-vitro pulsatile flow loop model: Pipeline™ Flex Embolization Device (Pipeline), Pipeline™ Flex Embolization Device with Shield Technology™ (Pipeline Shield), Derivo Embolization Device (Derivo), and P64 Flow Modulation Device (P64). Thrombin generation (Mean ± SD; μg/mL) was measured as: Derivo (28 ± 11), P64 (21 ± 4.5), Pipeline (21 ± 6.2), Pipeline Shield (0.6 ± 0.1) and Negative Control (1.5 ± 1.1). Platelet activation (IU/μL) was measured as: Derivo (4.9 ± 0.7), P64 (5.2 ± 0.7), Pipeline (5.5 ± 0.4), Pipeline Shield (0.3 ± 0.1), and Negative Control (0.9 ± 0.7). We found that Pipeline Shield had significantly lower platelet activation and thrombin generation than the other devices tested (p<.05) and this was comparable to the Negative Control (no device, p >.05). High resolution scanning electron microscopy performed on the intraluminal and cross-sectional surfaces of each device showed the lowest accumulation of platelets and fibrin on Pipeline Shield relative to Derivo, P64, and Pipeline. Derivo and P64 also had higher thrombus accumulation at the flared ends. Pipeline device with Phosphorylcholine surface treatment (Pipeline Shield) could mitigate device material related thromboembolic complications.


CT-guided thrombolytic treatment of patients with wake-up strokes

Carmel Armon, Jochay Wainstein, Aviv Gour, Ronen Levite, ... Itzhak Kimiagar

  • Pages 91-97
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  • Abstract

    Observational studies of thrombolysis outcomes in wake-up acute ischemic stroke patients selected based on non-contrast brain CT criteria suggested that treated patients did as well as or better than those not treated, after adjustment for baseline characteristics. We began offering thrombolytic treatment (IVTPA) to patients presenting with wake-up strokes and normal non-contrast brain CTs, who could be treated within 4.5 h of being found.

    Conclusions

    The findings affirm, in a new clinical series reflecting routine practice, that it is safe to treat with IVTPA patients with wake-up strokes and a normal brain CT scan, who are not candidates for endovascular intervention. We hypothesize, that when the non-contrast brain CT scan is normal, it may be safe to extend beyond 4.5 h the IVTPA treatment eligibility window in similar patients with witnessed-onset stroke.


Neurological disorders in a consultant hospital in Northern Tanzania. A cohort study

Saitore Laizer, Kajiru Kilonzo, Sarah Urasa, Venance Maro, ... William Howlett

  • Pages 101-105
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  • Abstract

    To determine the sociodemographic characteristics, clinical findings and outcome by HIV status in a series of adult patients presenting with neurological disorders (NDs) and admitted to a consultant hospital in Northern Tanzania.

    Conclusion

    This study reports NDs occurring in one fifth of adult medical admissions with stroke and infections as the leading causes. The prevalence of HIV infection in NDs was 20%. The HIV positive cohort was characterized by advanced immunosuppression, CNS infections and high mortality.

     

Case Reports

Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge

Paula Salgado, Rui Carvalho, Ana Filipa Brandão, Paula Jorge, ... Marina Magalhães

  • Pages 9-12
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  • Abstract

    Gordon Holmes syndrome (GHS), characterized by cerebellar ataxia and hypogonadotropic hypogonadism (HH), has been related to recessive mutations in PNPLA6 gene.

    Aims of the study

    Describe one Portuguese family with GHS due to compound heterozygosity of two new PNPLA6 variants.

    Conclusions

    This case shows how incomplete studies can be misleading, increases genetic knowledge of GHS and expands its clinical spectrum. The coexistence of a FMR1 intermediate allele in this family constituted an additional challenge in the etiological investigation.


Pituitary metastasis of breast cancer mimicking IgG4-related hypophysitis

Kanako Nose, Toshiyasu Ogata, Jun Tsugawa, Tooru Inoue, ... Yoshio Tsuboi

  • Pages 13-15
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  • Abstract

    IgG4-related hypophysitis, which is the pituitary gland inflammation caused by IgG4 positive lymphocytes, can affect cavernous sinus and orbital apex leading to developing cranial nerve related symptoms such as orbital apex syndrome (OAS). Here we report a case of hypopituitarism associated with OAS caused by pituitary metastasis of the breast cancer with elevated serum IgG4 level, who initially resembled to IgG4-related hypophysitis. Although this case had some features in common with igG4-related hypophysitis. The symptoms and pituitary enlargement were typical. However, steroid treatment did not improve her symptoms. Thus, we performed a tissue biopsy. Histopathologic examination of the hypophyseal tumor confirmed metastatic breast cancer in her pituitary. Pituitary metastatic tumor should be suspected if a case with OAS was once diagnosed as a cancer.


Reversible spontaneous EMG activity during myasthenic crisis: Two case reports

Theocharis Tsironis, Santiago Catania

  • Pages 16-18
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  • Abstract

    Myasthenia Gravis (MG) is an antibody-mediated autoimmune neuromuscular disorder, clinically presenting with fatigable variable muscle weakness. Typical electrodiagnostic findings are a decremental response to repetitive nerve stimulation with post-exercise facilitation, and motor unit instability expressed as increased jitter on single fibre-EMG. Presence of spontaneous activity on standard EMG is traditionally considered inconsistent with a diagnosis of MG and would direct the differential diagnosis towards a primary denervating or usually inflammatory myopathic process.

    We herein present two patients with progressive severe bulbar symptomatology, whose needle-EMG examinations showed spontaneous activity and led to erroneous initial diagnoses of inflammatory myopathy and anterior horn cell disease respectively. Follow-up neurophysiological investigations, positive anti-AchR titres and good response to IVIg and steroids eventually established the diagnosis of Myasthenia Gravis.

    Conclusions

    Clinically severe Myasthenia Gravis can potentially present with spontaneous activity on EMG, mimicking acute myopathic or neurogenic processes. This can prove particularly perplexing and cause significant delays in the diagnosis and treatment of a myasthenia relapse.


Cerebral fat embolism syndrome in sickle cell disease without evidence of shunt

Cody L. Nathan, Whitley W. Aamodt, Tanuja Yalamarti, Calli Dogon, Paul Kinniry

  • Pages 19-20
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  • Abstract

    Fat embolism syndrome (FES) is a known complication of sickle cell disease (SCD) that occurs secondary to vaso-occlusive crises, bone marrow infarction, and the subsequent release of fat globules into the venous circulation. Although neurologic involvement is common, the pathophysiology of cerebral fat emboli remains controversial. While fat microemboli can enter the arterial circulation through right-to-left shunts, the systemic release of free fatty acids may also cause indirect endothelial damage and disruption of the blood-brain-barrier. We present an unusual case of cerebral fat emboli in SCD that occurred in the absence of acute chest syndrome or right-to-left shunt, favoring a biochemical etiology. Treatment of FES includes supportive care and emergent red cell exchange transfusions.


Meningeal carcinomatosis presenting with leukoencephalopathy-like imaging findings

Hiroshi Tsuji, Shioya Ayako, Norio Takayashiki, Toshiyuki Irie, ... Akira Tamaoka

  • Pages 21-23
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  • Abstract

    Meningeal carcinomatosis is a unique and rare form of metastasis observed in patients with malignant tumours. Diagnosis is simple when the primary lesion of the malignant tumour is clear, and when multiple miliary lesions are confirmed via cranial contrast MRI; however, many patients exhibit atypical imaging findings. In the present report, we discuss the case of a 72-year-old man who presented with subacute consciousness impairment and MRI findings suggestive of progressive, bilateral leukoencephalopathy-like lesions around the ventricles. Idiopathic hydrocephalus was initially suspected due to increased cerebrospinal fluid (CSF) pressure accompanied by normal cell counts. Although the patient underwent a ventriculoperitoneal shunt operation, his symptoms did not improve. Whole-body CT revealed findings suggestive of adenocarcinoma in the left lung. Paraneoplastic syndrome was suspected, and he was treated with three courses of high-dose intravenous methylprednisolone. However, his neurological symptoms did not improve, and he died 2 months after admission. The patient was ultimately diagnosed with meningeal carcinomatosis due to lung adenocarcinoma upon autopsy. In this case, we suspected that the white matter lesions observed on MRI resulted from secondary hydrocephalus due to obstruction of the CSF circulation. This is the first reported case of progressive leukoencephalopathy-like imaging findings in a patient with meningeal carcinomatosis.


Development of a dural arteriovenous fistula subsequent to cerebral venous thrombosis by venous hypertension

Min Kyoung Kang, Young-Dae Cho, Hyun-Seung Kang, Keun-Hwa Jung

  • Pages 24-27
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  • Abstract

    Dural arteriovenous fistulas (dAVF) refer to an aberrant connection between an artery and a vein within the dura. Although the pathogenesis of dAVF is unclear, a link to cerebral venous thrombosis (CVT) has been posited though not fully identified. The current case is the first report demonstrating dAVF formation following CVT according to dynamic changes in the intracranial pressure and venous drainage pattern. This observation provides insight into the pathophysiological association between dAVF and CVT. A 60-year-old woman presented with acute onset of a severe headache and first-onset seizure. Initial magnetic resonance imaging showed an extensive thrombosis in the cerebral venous sinuses. However, there was no evidence of any vascular malformation. Eight months later, she reported dizziness, visual obscurations and pulsatile tinnitus. Follow-up digital subtraction angiography showed multiple dAVFs. Endovascular treatments for the dAVF embolization was performed twice, resulting in the obliteration of the dAVF along with the resolution of her optic disc edema, visual obscurations and tinnitus. The degree and pattern of the venous pressure, not hypoxia-induced growth factors, are the key pathogenic mechanisms of dAVF following CVT. Oral anticoagulants and good adherence do not ensure the prevention of dAVF. Thus, careful clinical observation and follow-up examinations are recommended.


Pupil-sparing third cranial nerve palsy with aberrant regeneration secondary to cavernous sinus arachnoid cyst

Kelly A. Malloy, Erin M. Draper, Ashley K. Maglione

  • Pages 28-30
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  • Abstract

    A 66 year-old woman presented with a pupil-sparing partial third cranial nerve palsy with aberrant regeneration. Imaging revealed a cystic lesion in the right cavernous sinus, demonstrating signal characteristics consistent with arachnoid cyst. Oculomotor synkinesis and a pupil-sparing third cranial nerve palsy from an arachnoid cyst of the cavernous sinus have not been previously reported. Intracavernous arachnoid cysts are in the differential diagnosis of cranial nerve III palsies, with and without synkinesis or pupil involvement.


Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case

G. Bellantoni, F. Guerrini, M. Del Maestro, R. Galzio, S. Luzzi

  • Pages 31-33
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  • Abstract

    Schwannomatosis is a genetic disorder that belongs to NF family. The mutation of SMARCB1 gene has been related to this entity and Coffin-Siris syndrome, as well. We reported a case of a female patient with SMARCB1 mutation who has developed a spontaneuous spleen rupture.

    A 28 years old female patient with a story of a Sjogren syndrome, celiac disease and a surgically treated schwannoma, presented to our observation in July 2013 for a pain on the left elbow, where a tumefation was present. After neuroradiological evaluations, a surgical resection was performed and a schwannoma was diagnosed. Genetic exams revealed a puntiform SMARCB1 gene mutation. During 2015, she was subdued to the removal of an another schwannoma located into the cervical medullary canal. Few months later, she was operated in an another hospital for a spontaneous spleen rupture in a possible context of wandering spleen.

    Conclusion

    We think that the patient could suffer from a partially expressed Coffin-Siris syndrome. No cases of spontaneous rupture in a context of wandering spleen have been ever described as for as schwannomatosis or Coffin-Siris syndrome are concerned. More cases are necessary to establish a direct relationship.


Acute disseminated encephalomyelitis in an older adult following prostate resection

B. Ceronie, O.C. Cockerell

  • Pages 40-42
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  • Abstract

    Acute disseminated encephalomyelitis (ADEM) is an uncommon, autoimmune, demyelinating disorder of of the central nervous system. It is rare in adults beyond 65 years. Here, we describe a novel presentation following urological surgery. Using illustrative features from our case study, we describe some of the clinical features, aetiologies, diagnostic uncertainties and pathogenic mechanisms of the disease. A 69 year old gentleman underwent transurethral resection of the prostate. He then developed confusion, unsteadiness, behavioural disturbance and left-sided hemiparesis. On admission he was febrile with left hemiplegia and ataxia. Neuroimaging showed multifocal, posterior-predominant semi-confluent lesions. Autoimmune serology and virology were negative. Cerebrospinal fluid revealed mildly elevated protein. Brain biopsy confirmed a diagnosis of ADEM. ADEM is a predominantly a childhood disorder and rare in older adults. It is precipitated by vaccinations, viral, bacterial or parasitic infections. It is rarely described after surgical intervention. Differential diagnosis is wide and includes multiple sclerosis (MS), encephalitides and encephalopathies. Treatment is with corticosteroids, plasma exchange, intravenous immunoglobulin or cyclophosphamide. Up to a quarter will experience recurrence and 10% progress to MS. Further study is needed to determine its pathogenic and immunological characteristics.


Repetitive brainstem lesions in mitochondrial DNA 11778G>A mutation of Leber hereditary optic neuropathy

Noriyuki Miyaue, Yuki Yamanishi, Satoshi Tada, Rina Ando, ... Masahiro Nomoto


Unstable blood sugar levels as triggers for the syndrome of acute bilateral basal ganglia lesions in diabetic uremia: Two Taiwanese patients with unusual neuroimaging findings

Pei-Yun Chen, Han-Cheng Wang

  • Pages 85-88
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  • Abstract

    The syndrome of acute bilateral basal ganglia lesions in diabetic uremia is uncommon and usually affects Asian patients. The underlying pathogenesis of this syndrome is not clear. We searched PUBMED using the keywords "bilateral basal ganglia", "diabetic", and "uremia", and found a total of 34 cases from 1998 to 2016. In most cases, blood sugar levels were normal. Here we report two Taiwanese cases presenting with dyskinesias. In one case the syndrome was triggered by hyperglycemia, and in the other by severe hypoglycemia. Their neuroimaging findings were unusual as compared with previously reported cases, presenting as mixed hypo- and hyperintensity on T1-weighted magnetic resonance imaging. We think these new finding would shed some light on the underlying pathophysiology of this syndrome. For treatment, it is advisable to keep glucose levels as stable as possible in diabetic uremic patients to prevent this syndrome. A rapid correction of hyper- or hypoglycemia after the onset may help recovery.


Solitary sclerosis presenting as isolated spontaneous paroxysmal dysarthria

Yuanxuan Xia, Thomas Shoemaker, Noah Gorelick, Justin C. McArthur

  • Pages 98-100
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  • Abstract

    Paroxysmal dysarthria and ataxia (PDA) is a rare syndrome characterized by brief, stereotyped episodes of slurred speech, clumsiness with extremities, or vertigo. It is usually observed in young patients suffering from multiple sclerosis with numerous lesions. PDA is challenging to identify in those presenting with atypical patterns. Here, a non-ataxic variant of PDA in an otherwise neurologically healthy elderly man is presented who had a single midbrain lesion. A broad diagnostic workup illustrates the challenges of identifying PDA. Teaching points emphasize the significance of the midbrain lesion and response to anti-epileptic medication.

 

Letters to the Editor

A case of extensive epidural abscess concomitant with intracranial involvement due to Staphylococcus aureus successfully treated with ceftriaxone in combination with linezolid and rifampin

Kozo Saito, Ryosuke Fukazawa, Shiori Ogura, Takashi Kasai, Toshiki Mizuno


Concomitant myasthenia gravis, myositis, myocarditis and polyneuropathy, induced by immune-checkpoint inhibitors: A life–threatening continuum of neuromuscular and cardiac toxicity

Eugenia Rota, Paola Varese, Sergio Agosti, Lorenzo Celli, ... Nicola Morelli


The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case

Keisuke Yoshikawa, Motoi Kuwahara, Kazumasa Saigoh, Hiroyuki Ishiura, ... Susumu Kusunoki

  • Pages 34-37
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  • Abstract

    Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy. Homozygous mutations of KIF1A reportedly lead to hereditary spastic paraplegia or hereditary sensory and autonomic neuropathy type 2 (HSAN2), whereas heterozygous mutations can cause nonsyndromic and syndromic intellectual disability (MRD9). Here we report the case of a 37-year-old female who presented with gait disturbance complicated with moyamoya disease.

    Results

    The patient exhibited hypotonia during infancy, after which intellectual disability, epileptic fits, spastic paraplegia, and cerebellar atrophy occurred. Genetic analysis revealed a novel de novo mutation (c.254C > A, p.A85D) in the motor domain of KIF1A.


Antiepileptics and NO-precursors may be beneficial for stroke-like episodes

Josef Finsterer

  • Pages 38-39
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  • Abstract

    Pathogenesis and management of stroke-like episodes in mitochondrial disorders is under debate and no consensus has been reached thus far how this phenomenon should be managed. Frequently applied are nitric oxide (NO) precursors but a well-designed study confirming the effectiveness of such an approach is lacking. Administration of antiepileptic drugs can be meaningful if there is paroxysmal activity on EEG or if a patient presents with seizures. The case reported by Sakai et al. suggests that administration of antiepileptic drugs for a stroke-like episode may be beneficial even in the absence of seizures or paroxysmal EEG activity.


Atezolizumab-induced encephalitis in metastatic lung cancer: a case report and literature review

Masafumi Arakawa, Mineo Yamazaki, Yusuke Toda, Riho Saito, ... Kazumi Kimura


Cerebellar cystic glioblastomas: An uncommon presentation of a rare disease and clinical review

José Pedro Lavrador, José Hipólito Reis, Diogo Belo, Shami Acharya, ... Manuel Herculano Carvalho


Eculizumab improved weakness and taste disorder in thymoma-associated generalized myasthenia gravis with anti-striational antibodies: A case report

Eiichiro Amano, Shinichi Otsu, Shigeaki Suzuki, Akira Machida


Outbreak of Guillain-Barre syndrome in Peru

S. Díaz-Soto, Karen Chavez, Alex Chaca, Joseff Alanya, Indira Tirado-Hurtado