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Musicogenic epilepsy (ME), a peculiar form of reflex epilepsy, represents a neurological rarity and yet another demonstration of the extraordinary power of music on the human brain. Despite the heterogeneity of the reported musical triggers, the patients' emotional response to music is thought to play a crucial role in provoking seizures. Accordingly, the mesial temporal structures (especially of the non-dominant hemisphere) appear most involved in seizure generation, although a more complex fronto-temporal epileptogenic network was documented in some cases. Autoimmune encephalitis has been recently included among the many possible etiologies of ME thanks to few reports of music-induced seizures in patients with anti-glutamic acid decarboxylase 65 antibodies. Here we describe the case of a 25-year-old man, with long-term music education, who suffered from drug-resistant temporal lobe epilepsy following seronegative limbic encephalitis related to non-Hodgkin lymphoma. Along with spontaneous events, the patient also developed musicogenic seizures later in the disease course. After detecting five music-induced episodes via 24-h ambulatory EEG, we performed a prolonged video-EEG monitoring during which the patient presented a right temporal seizure (characterized by déjà-vu, piloerection and gustatory hallucinations) while listening to a hard-rock song (never heard before) through headphones. This observation allowed us to confirm the provoking effect of music on our patient's seizures, despite the lack of any emotional drive, which suggests that a "cognitive" trigger was more likely in this case. Our report further highlights that autoimmune encephalitis should be investigated as a novel potential cause of musicogenic epilepsy, regardless of autoantibody status.
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BACKGROUND: The 22q11.2 Deletion Syndrome (22q11.2DS) is considered the most reliable biological model to study genetic vulnerability to schizophrenia. It appears useful to investigate neuroanatomical characteristics of people with 22q11.2DS compared to chronic schizophrenia and healthy controls. METHODS: The sample consisted of 16 individuals with a diagnosis of schizophrenia for over 10 years (SCZ>10), 14 with a diagnosis for less than 10 years (SCZ≤10), 11 patients with 22q11.2DS with no diagnosis of psychotic disorder (DEL, n=11) and 19 healthy controls (HCs, n=19). Global intelligence (IQ) was evaluated for all subjects. Voxel-Based Morphometry (VBM) was employed to investigate potential differences between groups in grey matter volumes. RESULTS: VBM located the most significant difference between SCZ and HCs in the left medial frontal gyrus, where SCZ>10 group showed a significant reduction of grey matter volume; the same cluster resulted significantly decreased in DEL group compared to HCs as well. Despite the extensive grey matter abnormalities observed in 22q11.2DS, the DEL group showed the only significant differences compared to the SCZ>10 group in the right lingual gyrus volumes. CONCLUSIONS: Despite the small sample, our study identified a common area of grey matter loss both in idiopathic schizophrenia and 22q11.2DS.
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Síndrome de DiGeorge , Transtornos Psicóticos , Esquizofrenia , Humanos , Esquizofrenia/diagnóstico por imagem , Síndrome de DiGeorge/diagnóstico por imagem , Síndrome de DiGeorge/genética , Substância Cinzenta/diagnóstico por imagem , Córtex CerebralRESUMO
Background: Spinal intradural extramedullary arachnoid cysts represent about 1-3% of all primary spinal space-occupying lesions often causing spinal cord and/or radicular nerve compression. Spontaneous intralesional hemorrhages are extremely rare and are typically found within intracranial arachnoid cysts. Here, a 55-year-old female presented with a spontaneous hemorrhage into a cervical spine arachnoid cyst warranting surgical intervention (i.e., fenestration/excision/occlusion). Case Description: A 55-year-old female presented with 3 weeks of dull pain in the cervicothoracic region. She subsequently developed paresthesias and progressive lower extremity weakness with (urinary incontinence. The cervical magnetic resonance revealed a right anterolateral intradural extramedullary "cystic" lesion extending from C7 to T2; it contained a heterogeneous signalon T2W sequences, and a fluid-fluid level was documented on the T2-GRE and FLAIR sequences. At surgery, consisting of a laminectomy, two hemorrhagic cystic lesions were identified and removed. Histological findings were consistent with hemorrhagic into an arachnoid cyst. Conclusion: Only rarely hemorrhages develop in intraspinal intradural extramedullary spinal arachnoid cysts.
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Background: Aggressive and metastatic PitNETs are challenging conditions. Immune checkpoint inhibitors (ICIs) are currently considered in cases resistant to temozolomide (TMZ). However, clinical experience is essentially limited to case reports, with variable outcomes. Material and Methods: The effects of ICIs on 12 aggressive/metastatic PitNETs from the literature were reviewed and analyzed according to tumor characteristics, with the additional description of a silent-Pit1 metastatic tumor responding to pembrolizumab. Results: Most cases were metastatic (10/13: 6 corticotroph, 3 lactotroph, 1 silent Pit1); 3 were aggressive (2 corticotroph, 1 lactotroph). ICIS was used either as monotherapy or in combination. At last follow-up on ICI, a complete response (CR) was present in 3 cases and a partial response (PR) in 2 cases (4/5 metastatic). One sustained stable disease (SD) was reported. Progressive disease (PD) was observed in 7 cases, 3 of them after initial SD (n = 1) or PR (n = 3), with 2 reported deaths. PDL1 expression was studied in 10 cases and was high (>95%) in 2 Pit1-derived metastatic PitNETs (1 CR and 1 remarkable PR) but absent/low (<1%) in the remaining cases (including 1 CP and 2 PR). Elevated tumor mutation burden could be informative in corticotroph PitNETs, especially in mismatch repair-deficient tumors. Conclusion: Significant benefits from ICIs were documented in about half of TMZ-resistant PitNETS. High PDL1 expression was associated with remarkable responses but may be dispensable. Based on their acceptable tolerance and awaiting recognized predictors of response, ICIs may be considered a valuable option for such patients.
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Musicogenic epilepsy (ME), a peculiar form of reflex epilepsy, represents a neurological rarity and yet another demonstration of the extraordinary power of music on the human brain. Despite the heterogeneity of the reported musical triggers, patients' emotional response to music is thought to play a crucial role in provoking seizures. Accordingly, the mesial temporal structures (especially of the non-dominant hemisphere) appear most involved in seizure generation, although a more complex fronto-temporal epileptogenic network was documented in some cases. Autoimmune encephalitis has been recently included among the many possible aetiologies of ME based on a few reports of music-induced seizures in patients with anti-glutamic acid decarboxylase 65 antibodies. Here, we describe the case of a 25-year-old man, educated in music over a long period of time, who had suffered from drug-resistant temporal lobe epilepsy following seronegative limbic encephalitis related to non-Hodgkin lymphoma. Along with spontaneous events, the patient also developed musicogenic seizures later in the disease course. After detecting five music-induced episodes via 24-hour ambulatory EEG, we performed prolonged video-EEG monitoring during which the patient presented a right temporal seizure (characterized by déjà-vu, piloerection and gustatory hallucinations) while listening to a hard rock song through headphones (which he had not previously heard). This observation allowed us to confirm the provoking effect of the music on our patient's seizures, despite the lack of any emotional drive, which suggests that a "cognitive" trigger was more likely in this case. Our report further highlights that autoimmune encephalitis should be investigated as a novel potential cause of musicogenic epilepsy, regardless of autoantibody status.
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Epilepsia Reflexa , Encefalite Límbica , Música , Adulto , Epilepsia Resistente a Medicamentos , Eletroencefalografia , Epilepsia Reflexa/diagnóstico , Epilepsia Reflexa/etiologia , Humanos , Encefalite Límbica/diagnóstico , Encefalite Límbica/etiologia , Masculino , ConvulsõesRESUMO
Sleep disorders (SDs) represent an important issue in patients with craniopharyngioma (CP). Nearly 70% of these patients complain of sleep-wake cycle alterations and/or excessive diurnal somnolence due to sleep-related breathing disorders, such as obstructive sleep apnea (OSA) and/or central hypersomnia, including secondary narcolepsy. SDs may severely reduce quality of life, increase disease-related cardiorespiratory and cardiovascular morbidity, and finally play a major role in increased long-term mortality reported on patients with CP. A major risk factor for SDs is represented by the hypothalamic syndrome, which may develop because of direct hypothalamic damage by the tumor itself and/or complications of the treatments, neurosurgery and/or radiotherapy, and typically includes permanent neuroendocrine dysfunctions, morbid obesity, and secondary metabolic disorders. Despite increasing attention to SDs in the general population, and in particular to OSA as a risk factor for cardio-metabolic diseases and excessive daytime somnolence, sleep evaluation is still not routinely proposed to patients with CP. Hence, SDs are often underdiagnosed and undertreated. The aim of this paper is to update current knowledge of the pathogenesis and prevalence of SDs in patients with CP and propose practical algorithms for their evaluation and management in clinical practice. Particular attention is paid to screening and diagnostic tools for appropriate characterization of SDs, identification of risk factors, and potential role of hypothalamic sparing surgery in the prevention of morbid obesity and SDs. Available tools in sleep medicine, including lifestyle interventions, drugs, and respiratory devices, are discussed, as well as the importance of optimal hormone replacement and metabolic interventions. Current limits in the diagnosis and treatment of SDs in patients with CP and possible future avenues for research agenda are also considered.
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BACKGROUND: Leukodystrophies are familial heterogeneous disorders primarily affecting the white matter, which are defined as hypomyelinating or demyelinating based on disease severity as assessed at MRI. Recently, a group of clinically overlapping hypomyelinating leukodystrophies (HL) has been associated with mutations in RNA polymerase III enzymes (Pol III) subunits. CASE PRESENTATION: In this manuscript, we describe two Italian siblings carrying a novel POLR3A genotype. MRI imaging, genetic analysis, and clinical data led to diagnosing HL type 7. The female sibling, at the age of 34, is tetra-paretic and suffers from severe cognitive regression. She had a disease onset at the age of 19, characterized by slow and progressive cognitive impairment associated with gait disturbances and amenorrhea. The male sibling was diagnosed during an MRI carried out for cephalalgia at the age of 41. After 5 years, he developed mild cognitive impairment, dystonia with 4-limb hypotonia, and moderate dysmetria with balance and gait impairment. CONCLUSIONS: The present study provides the first evidence of unusually late age of onset in HL, describing two siblings with a novel POLR3A genotype which showed the first symptoms at the age of 41 and 19, respectively. This provides a powerful insight into clinical heterogeneity and genotype-phenotype correlation in POLR3A related HL.
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Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/genética , RNA Polimerase III/genética , Adulto , Idade de Início , Encéfalo/patologia , Feminino , Genótipo , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação , Irmãos , Substância Branca/patologiaRESUMO
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is considered as the genetic model of schizophrenia. However, its polymorphic nature has led researchers to further investigate its neuropsychiatric manifestations. METHODS: We enrolled 56 adults (38 men, 18 women) diagnosed with 22q11.2DS. All subjects were evaluated by a multidisciplinary team. The neuropsychiatric features were investigated by means of clinical and neurophysiological evaluation (video-EEG). RESULTS: Thirty per cent of our patients were left-handed. Fifty-eight per cent had a low IQ, and 22 of 56 subjects had psychotic disorders (13 of 22 with schizophrenia). Eighteen patients reported at least one seizure in their lifetime, and ten were diagnosed with epilepsy; among them, seven had genetic generalised epilepsy (GGE), and five of seven showed features suggestive of juvenile myoclonic epilepsy (JME). Video-EEG recordings revealed generalised epileptiform abnormalities in 24 of 56 cases. Besides, only one patient with epilepsy had a cardiac malformation. Lastly, 31 of 56 subjects presented with parkinsonism, 16 of whom were taking neuroleptics. None of the 15 patients with parkinsonism not related to neuroleptic therapy was diagnosed with epilepsy, compared with 6 of those taking antipsychotics. CONCLUSIONS: 22q11.2DS is characterised by left-handedness and neuropsychiatric features such as cognitive impairment, schizophrenia, epilepsy and parkinsonism. GGE, mostly the JME phenotype, is the predominant epilepsy type. The significant association between 22q11.2DS and parkinsonian features confirms these patients' genetic susceptibility to parkinsonism. Despite the lack of any conclusive evidence, our study suggests a possible relationship between the analysed clinical variables: (1) an inverse correlation between low IQ/psychosis/epilepsy and major cardiac diseases; (2) a direct association between psychosis and both mental delay and epilepsy; and (3) an inverse correlation between parkinsonism and epilepsy.
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Síndrome de DiGeorge/genética , Epilepsias Mioclônicas/genética , Transtornos Parkinsonianos/genética , Esquizofrenia/genética , Adolescente , Adulto , Síndrome de DiGeorge/fisiopatologia , Epilepsias Mioclônicas/fisiopatologia , Feminino , Lateralidade Funcional/fisiologia , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Parkinsonianos/fisiopatologia , Fenótipo , Esquizofrenia/fisiopatologia , Adulto JovemRESUMO
In the original publication, fifth author's surname was incorrectly published as "Diacinto". The correct surname should read as "Diacinti".
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PURPOSE: Sudden sensorineural hearing loss (SSNHL) has similarities to conditions with vascular etiologies such as myocardial infarction and cerebral stroke. Thus, it could be considered as an early sign of a vascular disease and not only a specific local condition. Chronic hypoperfusion in the brain districts leads to a chronic ischemic damage, called cerebral small vessel disease (CSVD), detectable with brain magnetic resonance imaging (MRI). METHODS: The authors used CSVD to establish the presence of vascular risk factors in individuals with SSNHL and used the Fazekas score scale to classify them. RESULTS: Our study showed that individuals with SSNHL aged between 48 and 60 years have 26% more probability to have a Fazekas score higher than 1 compared to the general population. Individuals younger than 28 years showed a statistically significant negative correlation to have a Fazekas score higher than 0. The higher is the Fazekas score, the less is the probability of hearing recovery. The medium hearing-recovery probability is 46%. This decreases by 16% for every increase of score in the Fazekas scale. In the present study, the recovery probability decreased from 80% in individuals younger than 48 years with a score of 0 to 14% in individuals with a Fazekas scores of 3 and 4. CONCLUSIONS: The authors assessed a higher prevalence of CSVD compared to the general population in patients aged between 48 and 60 years with SSNHL. Moreover, they assessed that the presence of CSVD is related to a decreased probability of recovery, as it has already been demonstrated for stroke.
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Encéfalo/patologia , Doenças de Pequenos Vasos Cerebrais/complicações , Doenças Cocleares/etiologia , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Súbita/etiologia , Imageamento por Ressonância Magnética , Substância Branca/patologia , Adolescente , Adulto , Fatores Etários , Idoso , Encéfalo/diagnóstico por imagem , Estudos de Casos e Controles , Doenças de Pequenos Vasos Cerebrais/diagnóstico por imagem , Doenças de Pequenos Vasos Cerebrais/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Substância Branca/diagnóstico por imagem , Adulto JovemRESUMO
BACKGROUND: The persistent trigeminal artery (PTA) is an adult carotid-basilar anastomosis with debated pathologic aspects, such as its association with brain aneurysms. True trigeminal artery aneurysms are rare vascular anomalies, reported in a few case reports. OBJECTIVE: To report our experience with a ruptured trigeminal artery aneurysm and to provide a systematic review of the literature in order to analyse potential links between the anatomic configuration of the PTA and PTA aneurysm (PTAA) type, and implications of each PTAA type for the diagnostic and therapeutic approach. METHODS: We reviewed the medical literature on trigeminal artery aneurysms according to the PRISMA guidelines. Population characteristics, aneurysms features, and PTA type and side were assessed. RESULTS: 40 previously published cases of PTAAs were included in the analysis. The mean age of subjects was 55 years, with a strong female predominance (77%). Four PTAAs were accidentally discovered, while 16 caused compressive symptoms and 20 were ruptured. Successful endovascular treatment was performed in 62% of cases. CONCLUSIONS: PTAAs are rare vascular anomalies, underdiagnosed in the presence of a trigemino-cavernous fistula. Parent vessel occlusion seems to be the best therapeutic option for ruptured or symptomatic unruptured PTAAs in Saltzman type II and III PTAs. Patency of the parent vessel is the main target in Saltzman type I PTA.
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Artéria Basilar/anormalidades , Artéria Basilar/diagnóstico por imagem , Procedimentos Endovasculares , Aneurisma Intracraniano/diagnóstico por imagem , Artéria Basilar/cirurgia , Procedimentos Endovasculares/métodos , Feminino , Humanos , Aneurisma Intracraniano/cirurgia , Aneurisma Intracraniano/terapia , Pessoa de Meia-IdadeRESUMO
Cerebral venous thrombosis (CVT) is a rare condition, difficult to diagnose because of its non specific clinical symptoms. In some cases CVT can mimic other conditions as subarachnoid hemorrhage, ischemia or tumor and for these reasons diagnosis is delayed or missed. CT, DSA and MRI findings help to obtain an early diagnosis and to distinguish it from other diseases. Our cases involved four patients with no signs or symptoms suspected for CVT and without risk factors associated to this disease; furthermore some early imaging findings observed in these patients could mimic other diseases. The aim of presenting these cases is to underline the importance of some findings at imaging techniques in obtaining an early diagnosis of CVT; in particular we describe the usefulness of MRI with gradient echo sequences (GRE) in detecting the venous thrombus, suggesting that GRE sequences should be included in the MRI protocol when a CVT is suspected. We also underline the role of radiologists in helping neurologists to make an early diagnosis of CVT or when in doubt to encourage further investigations in order to begin the anticoagulation therapy as soon as possible avoiding the onset of complications as permanent parenchymal damage, cerebral hemorrhage and venous infarction.
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Trombose Intracraniana/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Neuroimagem/métodos , Trombose Venosa/diagnóstico por imagem , Adulto , Idoso , Feminino , Humanos , Trombose Intracraniana/patologia , Pessoa de Meia-IdadeRESUMO
Mutations of PLA2G6 gene are responsible for PARK14, an autosomal recessive L-DOPA responsive dystonia/parkinsonism with early/adult onset. This phenotype possesses an high clinical variability, which consists in the occurrence of cerebral and cerebellar atrophy, iron accumulation in the basal ganglia, and cognitive decline. This report describes a PD patient carrying an heterozygous PLA2G6 mutation, which was identified also in his PD affected sister. This patient is characterized by a L-DOPA responsive typical parkinsonian syndrome without the occurrence of dystonia, a slight cognitive decline, presence of iron accumulation both in neo and paleostriatum while cerebellar atrophy was absent. Clinical and imaging features are compatible with the PARK14 phenotype. Although PARK14 has been previously reported to be inherited as a recessive disorder, clinical and genetic analysis of this proband and his family rise the hypothesis that even heterozygous PLA2G6 mutations may cause PARK14. It remains to be analyzed whether these heterozygous variants may act as dominant mutations, or they merely increase the risk to develop PD by acting within a context of synergistic genetic and/or environmental backgrounds.
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BACKGROUND: Despite the progress achieved in recent years, the prognosis of patients with primary brain tumors remains poor. Research efforts have therefore focused on identifying more effective and minimally invasive treatment methods. Magnetic resonance-guided transcranial focused ultrasonography (MRgFUS) is a consolidated minimally invasive therapeutic technique, which has recently acquired a role also in the treatment of some nononcologic intracranial diseases. METHODS: We reviewed the latest studies to take stock of the potential of MRgFUS. RESULTS: The objective of the research in the last decade was to apply FUS also to the treatment of intracranial neoplastic diseases, using both the thermal effects (thermal ablation) and, above all, the ability to permeabilize the blood-brain barrier and modify the tumor microenvironment. This strategy may allow the use of drugs that are poorly active on the central nervous system or active selectively at high doses, minimize the side effects, and substantially modify the prognosis of patients affected by these diseases. CONCLUSIONS: In the future, targeted drug delivery, immunotherapy, and gene therapy will probably become main players in the treatment of brain neoplasms, with the aid of MRgFUS. In this way, it will be possible to directly intervene on tumor cells and preserve healthy tissue.
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Neoplasias Encefálicas/cirurgia , Ablação por Ultrassom Focalizado de Alta Intensidade , Animais , Neoplasias Encefálicas/diagnóstico por imagem , Ablação por Ultrassom Focalizado de Alta Intensidade/métodos , Humanos , Imagem por Ressonância Magnética Intervencionista , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Procedimentos Neurocirúrgicos/métodosRESUMO
Despite review papers claim for radical treatment of oligometastatic patients, only few surgical series have been published. In this study, we analyze results and actual role of surgical resection for the management of patients with multiple brain metastases. This retrospective study compares surgical results of two groups of patients consecutively treated in our Institute from January 2004 to June 2015. The first group comprises all 32 patients with multiple brain metastases with only 2-3 lesions who underwent surgical resection of all lesions; the second group comprises 30 patients with a single surgically treated brain mestastasis compatible with the first group (match-paired control series). Median survival was 14.6 months for patients with multiple brain metastases (range 1-28 months) and 17.4 months for patients with a single brain metastasis (range 4-38 months); the difference was not statistically significant (P = 0.2). Neurological condition improved in 59.4% of patients with multiple metastases, it remained unchanged in 37.5% and worsened in 3.1%. In our series, selected patients with only 2-3 lesions with well-controlled systemic disease, life expectancy of more than 3 months, Karnofsky's performance status > 60, and surgically accessible lesions, benefited from surgical treatment in terms of survival and quality of life, with reduction or disappearance of significant neurological deficits. The prognosis for these patients is similar to that of patients with a single metastasis. It seems that patients with breast cancer included in our series had the worst prognosis if compared to other histotypes.
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Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/cirurgia , Metástase Neoplásica/diagnóstico , Metástase Neoplásica/patologia , Procedimentos Neurocirúrgicos , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/patologia , Neoplasias da Mama/complicações , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Irradiação Craniana/métodos , Feminino , Humanos , Avaliação de Estado de Karnofsky , Masculino , Pessoa de Meia-Idade , Prognóstico , Qualidade de Vida , Estudos Retrospectivos , Técnicas EstereotáxicasRESUMO
Aneurysms arising from the ophthalmic artery trunk (OAT) are very rare, particularly in the artery's intracranial course. The onset of a subarachnoid hemorrhage (SAH) from a ruptured OAT aneurysm in this segment is extremely rare. We present a case and discuss the anatomy, clinical significance, and therapeutic options for an aneurysm at this site. We also retrospectively analyzed the record of a patient with a ruptured aneurysm of the intracranial segment of the OAT and conducted a comprehensive and systematic review of the PubMed and Scopus databases for literature on this pathology. Only one case report of SAH from an aneurysm of the intracranial segment of the OAT was published in the literature. Only in our case was the intracranial OAT segment aneurysm discovered in the acute phase of SAH. Conventional angiography with three-dimensional acquisition may help detect aneurysms at this level. Detailed knowledge of the anatomy of the OAT is of paramount importance for both surgical and endovascular approaches. Surgical treatment is complex because of difficulties in accessing the orbital region and the risk of optic nerve and vascular injuries. Endovascular treatment, when feasible, could be a good alternative to reduce the risk of loss of vision related to surgical manipulation.
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Aneurisma Roto/diagnóstico , Aneurisma Roto/cirurgia , Aneurisma Intracraniano/diagnóstico , Aneurisma Intracraniano/cirurgia , Artéria Oftálmica , Idoso , Angiografia Cerebral , Feminino , Humanos , Estudos RetrospectivosRESUMO
Freezing of gait (FOG) is a disabling disorder that often affects Parkinson's disease (PD) patients in advanced stages of the disease. To study structural gray matter (GM) and white matter (WM) changes in PD patients with and without FOG, twenty-one PD patients with FOG (PD-FOG), 16 PD patients without FOG (PD-nFOG) and 19 healthy subjects (HS) underwent a standardized MRI protocol. For the gray matter evaluation, cortical volume (CV), cortical thickness (CTh), and surface area (SA) were analyzed using the FreeSurfer pipeline. For the white matter evaluation, DTI images were analyzed using tracts constrained by underlying anatomy (TRACULA) toolbox in FreeSurfer. PD-FOG patients exhibited lower CTh than HS in the mesial surface of both cerebral hemispheres, including the superior frontal gyrus, paracentral lobule, posterior cingulate cortex, precuneus and pericalcarine cortex, and in the right dorsolateral prefrontal cortex. Moreover, significant WM changes were observed in PD-FOG patients in comparison with HS in the superior longitudinal fasciculus, uncinate fasciculus, cingulum cingulate gyrus and inferior longitudinal fasciculus (prevalently in the right hemisphere) and in the frontal radiations of the corpus callosum. DTI abnormalities in specific WM bundles correlated significantly with cognitive measures. The damage of multiple cortical areas involved in high-level gait control together with WM disruption between motor, cognitive and limbic structures may represent the anatomical correlate of FOG.
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Córtex Cerebral/patologia , Transtornos Neurológicos da Marcha/etiologia , Transtornos Neurológicos da Marcha/patologia , Doença de Parkinson/complicações , Idoso , Idoso de 80 Anos ou mais , Córtex Cerebral/diagnóstico por imagem , Feminino , Substância Cinzenta/diagnóstico por imagem , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Estatísticas não Paramétricas , Substância Branca/diagnóstico por imagemRESUMO
Background Previous functional MRI studies have revealed that ongoing clinical pain in different chronic pain syndromes is directly correlated to the connectivity strength of the resting default mode network (DMN) with the insula. Here, we investigated seed-based resting state DMN-insula connectivity during acute migraine headaches. Methods Thirteen migraine without aura patients (MI) underwent 3 T MRI scans during the initial six hours of a spontaneous migraine attack, and were compared to a group of 19 healthy volunteers (HV). We evaluated headache intensity with a visual analogue scale and collected seed-based MRI resting state data in the four core regions of the DMN: Medial prefrontal cortex (MPFC), posterior cingulate cortex (PCC), and left and right inferior parietal lobules (IPLs), as well as in bilateral insula. Results Compared to HV, MI patients showed stronger functional connectivity between MPFC and PCC, and between MPFC and bilateral insula. During migraine attacks, the strength of MPFC-to-insula connectivity was negatively correlated with pain intensity. Conclusion We show that greater subjective intensity of pain during a migraine attack is associated with proportionally weaker DMN-insula connectivity. This is at variance with other chronic extra-cephalic pain disorders where the opposite was found, and may thus be a hallmark of acute migraine head pain.
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Dor Aguda/diagnóstico por imagem , Córtex Cerebral/diagnóstico por imagem , Giro do Cíngulo/diagnóstico por imagem , Transtornos de Enxaqueca/diagnóstico por imagem , Lobo Parietal/diagnóstico por imagem , Córtex Pré-Frontal/diagnóstico por imagem , Dor Aguda/fisiopatologia , Adulto , Mapeamento Encefálico , Córtex Cerebral/fisiopatologia , Estudos de Coortes , Epilepsia , Feminino , Giro do Cíngulo/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Transtornos de Enxaqueca/fisiopatologia , Lobo Parietal/fisiopatologia , Córtex Pré-Frontal/fisiopatologia , Adulto JovemRESUMO
PURPOSE: Seizures are a common clinical symptom in high-grade gliomas (HGG). The aim of the study was to investigate the relationship between seizures and HGG relapse (HGG-R). METHODS: We retrospectively evaluated 145 patients who were surgically treated for HGG-R. By analyzing clinical characteristics in these patients (all operated and treated by the same protocol), we identified 37 patients with seizures during follow-up. This cohort was divided into four subgroups according to a) presence or absence of seizures at the time of diagnosis and b) temporal relationship between seizure occurrence and HGG-R during follow-up: subgroup A (25pts) had seizures at follow-up but not at onset, subgroup B (12pts) had seizures both at follow-up and onset, subgroup C (30pts) had seizures before MRI-documented HGG-R, and subgroup D (7pts) had seizures after MRI-documented HGG-R. RESULTS: Although the datum was not statistically significant, survival was longer in patients with seizures during follow-up than in those without seizures (59.3% vs 51.4% alive at 2 years). In 30 patients (subgroup C) seizures heralded HGG-R. In a correlation analysis for this last subgroup, the time interval between seizure and the HGG-R was significantly associated with the number of chemotherapy cycles (r=0.470; p=0.009) and follow-up duration (r=0.566; p=0.001). A linear regression model demonstrated a reciprocal association between the above factors and that it may be possible to estimate the timing of HGG-R by combining these data. CONCLUSIONS: Seizures may herald HGG-R before MRI detection of relapse, thus suggesting that seizures should always be considered a red flag during follow-up.
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Neoplasias Encefálicas/complicações , Epilepsia/etiologia , Glioma/complicações , Recidiva Local de Neoplasia/complicações , Convulsões/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/patologia , Estudos de Coortes , Feminino , Glioma/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: Intracerebral hemorrhage can be classified as either primary or secondary to various conditions such as vascular anomalies or stroke. We present a case of real-time incident detected on digital subtraction angiography (DSA) during thrombectomy in a patient with acute variable M1 occlusion. MATERIALS AND METHODS: A comprehensive literature search of the PubMed and Scopus databases was conducted: this is the first real-time visualization using DSA of a basal ganglia hematoma formation secondary to distal multifocal bleeding points just before a thrombectomy in a patient with acute variable M1 occlusion. CONCLUSION: We suggest that the positions of the clot before and during the procedure be compared always.