Neurologia Argentina最新文献

英文中文

Encefalitis de Rasmussen de inicio tardío: presentación de un caso y revisión de la literatura

Q4 Medicine

Neurologia Argentina

Pub Date : 2024-10-01 DOI: 10.1016/j.neuarg.2024.09.001

Diana Soledad Barrio , Agustina Belén Babbicola , María Florencia Sica , Alejandra Nerea Heriz , María Emilia Clément , Lucas Martín Romano

Introduction

Rasmussen's encephalitis (RE) is a rare neurological disorder that causes continuous partial epilepsy, cognitive decline, and hemiparesis in children, with no sex preference. It is characterized by affecting a single cerebral hemisphere, with possible aphasia if it affects the dominant side. Histologically, it shows perivascular inflammation and hemispheric atrophy in frontotemporal and insular areas. Radiologically, cortical atrophy is observed on MRI. Although it typically begins in childhood, it can appear in adolescence or adulthood as adult-onset RE.

Clinical case

The case of a 46-year-old female patient is presented, with the onset of the disease at 18 years of age.

Discussion

This is an uncommon disease that classically presents in childhood. However, approximately 10% of cases develop in adults. The disease progresses through three phases: prodromal with focal seizures, acute with increased seizures and brain volume loss, and residual with hemispheric atrophy and neurological deficits. Diagnosis is supported by clinical criteria and studies such as MRI and EEG. In the presented case, the disease presentation was atypical, constituting a diagnostic challenge. Treatment includes immunotherapy and, in severe cases, hemispherectomy.

Conclusion

RE in adults presents clinical challenges due to its rarity and distinctive manifestations compared to pediatric cases, including a better prognosis and slower progression with fewer cognitive deficits and continuous epilepsy.

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引用次数: 0

Exploración neurofisiológica en pacientes con sospecha de polineuropatía asociada a una infección por SARS-CoV-2

Q4 Medicine

Neurologia Argentina

Pub Date : 2024-10-01 DOI: 10.1016/j.neuarg.2024.09.002

Jorge de Francisco Moure , Irene Torres Ramón , Berenice Abreu Rodríguez , Sonia Navarrete Navarro , Carmen Almárcegui Lafita

Introduction

Neurological symptoms are common in patients suffering a SARS-CoV-2 infection. Guillain-Barré syndrome cases were described previously. In patients with long COVID-19, sensory symptoms are also frequent.

Patients and method

We presented 23 patients studied with a motor and sensory nerve conduction studies anf F-wave. If a small fiber pathology was suspected, a sympathetic-cutaneous response was performed.

Results

In 8 patients alterations were observed in the neurophysiological study (NPS): 2 patients had a delay in the minimum latency of the F-wave, 3 patients a decrease in its persistence, 2 patients an absence of RSS and 1 patient a decrease in the amplitude of the sensory action potentials.

Patients with alterations in the NPS had a delay between SARS-CoV-2 infection and the appearance of neurological symptoms (median 17 days). Four of these patients had a self-limiting course and three others developed a long COVID-19 syndrome.

In contrast, in patients with normal NPS, sensory symptoms began at the same time as COVID-19 symptoms. All of these patients developed a long COVID-19 syndrome.

Conclusion

Among the patients studied we find two profiles, in those with a pathological NPS there is a time delay between SARS-CoV-2 infection and neurological symptoms, often developing self-limiting symptoms. On the other hand, patients with a normal NPS start the neurological symptoms at the same time as the respiratory infection one and all of them develop a long COVID-19 syndrome.

{"title":"Exploración neurofisiológica en pacientes con sospecha de polineuropatía asociada a una infección por SARS-CoV-2","authors":"Jorge de Francisco Moure , Irene Torres Ramón , Berenice Abreu Rodríguez , Sonia Navarrete Navarro , Carmen Almárcegui Lafita","doi":"10.1016/j.neuarg.2024.09.002","DOIUrl":"10.1016/j.neuarg.2024.09.002","url":null,"abstract":"<div><h3>Introduction</h3><div>Neurological symptoms are common in patients suffering a SARS-CoV-2 infection. Guillain-Barré syndrome cases were described previously. In patients with long COVID-19, sensory symptoms are also frequent.</div></div><div><h3>Patients and method</h3><div>We presented 23 patients studied with a motor and sensory nerve conduction studies anf F-wave. If a small fiber pathology was suspected, a sympathetic-cutaneous response was performed.</div></div><div><h3>Results</h3><div>In 8 patients alterations were observed in the neurophysiological study (NPS): 2 patients had a delay in the minimum latency of the F-wave, 3 patients a decrease in its persistence, 2 patients an absence of RSS and 1 patient a decrease in the amplitude of the sensory action potentials.</div><div>Patients with alterations in the NPS had a delay between SARS-CoV-2 infection and the appearance of neurological symptoms (median 17days). Four of these patients had a self-limiting course and three others developed a long COVID-19 syndrome.</div><div>In contrast, in patients with normal NPS, sensory symptoms began at the same time as COVID-19 symptoms. All of these patients developed a long COVID-19 syndrome.</div></div><div><h3>Conclusion</h3><div>Among the patients studied we find two profiles, in those with a pathological NPS there is a time delay between SARS-CoV-2 infection and neurological symptoms, often developing self-limiting symptoms. On the other hand, patients with a normal NPS start the neurological symptoms at the same time as the respiratory infection one and all of them develop a long COVID-19 syndrome.</div></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"16 4","pages":"Pages 175-179"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172265","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}

引用次数: 0

Miopatías por defectos en la beta oxidación de ácidos grasos. Deficiencia de 3-hidroxiacil CoA-deshidrogenasa de cadena larga/complejo proteico trifuncional mitocondrial LCHADD/TFP una entidad con tratamiento específico

Q4 Medicine

Neurologia Argentina

Pub Date : 2024-10-01 DOI: 10.1016/j.neuarg.2024.09.004

Esteban Leonardo Calabrese

The b-oxidation of fatty acids is a critical physiological process that allows the use of fat as a source of energy in times of stress and fasting. Isolated long-chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHADD) (OMIM#609016) is an autosomal recessive disease that affects the metabolism of long-chain fatty acids and is secondary to mutations in the HADHA gene. Clinical symptoms are heterogeneous and develop progressively with exacerbation episodes mainly during episodes of intercurrent illness or fasting due to increased energy needs. A 36-year-old patient presented with progressive weakness in both lower limbs with distal onset and proximal progression associated with episodes of rhabdomyolysis that are triggered by a febrile syndrome. Clinical examination demonstrated the presence of surgical ankylosis of the ankle joint, weakness when flexion of the thigh over the pelvis 4/5 and flexion of the leg over the thigh 4/5, muscle hypotonia and posterior compartment muscle atrophy of the leg, areflexia of the lower limbs with preserved reflexes in the upper limbs. Given the suspicion of a possible metabolic myopathy, a dosage of acylcarnitines is requested where an increase in C16OH, C18OH, C18:20H and C18:10H is observed, and given these results, the HADHA gene is evaluated, demonstrating the presence of the variant c.2231delT, which promotes a change in the reading matrix from this point on, with the consequent creation of a premature stop codon for protein translation. The diagnosis of LCHADD deficiency is established by demonstrating an elevation of long-chain fatty acids, hydroxyacylcarnitine species in plasma, and/or increased excretion of 3-hydroxy-dicarboxylic acids in urine in combination with identification of biallelic pathogenic variants in HADHA or HADHB by molecular genetic testing.

{"title":"Miopatías por defectos en la beta oxidación de ácidos grasos. Deficiencia de 3-hidroxiacil CoA-deshidrogenasa de cadena larga/complejo proteico trifuncional mitocondrial LCHADD/TFP una entidad con tratamiento específico","authors":"Esteban Leonardo Calabrese","doi":"10.1016/j.neuarg.2024.09.004","DOIUrl":"10.1016/j.neuarg.2024.09.004","url":null,"abstract":"<div><div>The b-oxidation of fatty acids is a critical physiological process that allows the use of fat as a source of energy in times of stress and fasting. Isolated long-chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHADD) (OMIM#609016) is an autosomal recessive disease that affects the metabolism of long-chain fatty acids and is secondary to mutations in the HADHA gene. Clinical symptoms are heterogeneous and develop progressively with exacerbation episodes mainly during episodes of intercurrent illness or fasting due to increased energy needs. A 36-year-old patient presented with progressive weakness in both lower limbs with distal onset and proximal progression associated with episodes of rhabdomyolysis that are triggered by a febrile syndrome. Clinical examination demonstrated the presence of surgical ankylosis of the ankle joint, weakness when flexion of the thigh over the pelvis 4/5 and flexion of the leg over the thigh 4/5, muscle hypotonia and posterior compartment muscle atrophy of the leg, areflexia of the lower limbs with preserved reflexes in the upper limbs. Given the suspicion of a possible metabolic myopathy, a dosage of acylcarnitines is requested where an increase in C16OH, C18OH, C18:20H and C18:10H is observed, and given these results, the HADHA gene is evaluated, demonstrating the presence of the variant c.2231delT, which promotes a change in the reading matrix from this point on, with the consequent creation of a premature stop codon for protein translation. The diagnosis of LCHADD deficiency is established by demonstrating an elevation of long-chain fatty acids, hydroxyacylcarnitine species in plasma, and/or increased excretion of 3-hydroxy-dicarboxylic acids in urine in combination with identification of biallelic pathogenic variants in HADHA or HADHB by molecular genetic testing.</div></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"16 4","pages":"Pages 218-222"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143104607","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}

引用次数: 0

Ideas erróneas sobre daño cerebral adquirido en población de la Ciudad Autónoma de Buenos Aires

Q4 Medicine

Neurologia Argentina

Pub Date : 2024-10-01 DOI: 10.1016/j.neuarg.2024.09.003

María Eugenia Tabernero , Eduardo Leonardelli , María Fernanda Gallo , Evangelina Valeria Cores , Florencia Deschle

Introduction

Various studies have demonstrated the existence of misconceptions about acquired brain injury (ABI) and its consequences in different populations.

Objective

To describe the presence of ABI misconceptions in the general population (GP), healthcare workers (HCW), and patient family members (FM) of the Autonomous City of Buenos Aires, through the application of a self-administered questionnaire.

Subjects and methods

The sample includes 333 participants. Three sub-samples are distinguished: 151 cases for GP, 89 for HCW, and 93 for FM. The ABI questionnaire translated into Spanish by Navarro-Main et al. was utilized, to which five items related to cognitive and emotional sequelae were added, resulting in a questionnaire comprising 24 statements (DCA-24).

Results

Statements with a high error rate for the GP group were 2, 5, 6, 8, and 15. For the HCW group: 2 and 15. Finally, for the FM group: statements 2, 5, and 15. Significant differences were observed between the sub-samples for the total correct responses (p < .001). Post hoc analysis evidenced a better overall positioning of HCW compared to GP and FM, with no differences between the latter (p < .001).

Conclusions

HCW demonstrated greater knowledge about acquired brain injury than GP and FM. In our context, being FM does not seem to increase awareness about this issue. Using the ABI-24, we found misconceptions related to cognitive impairments and amnesia, recovery, and physical and behavioral manifestations of acquired brain injury across the entire population.

{"title":"Ideas erróneas sobre daño cerebral adquirido en población de la Ciudad Autónoma de Buenos Aires","authors":"María Eugenia Tabernero , Eduardo Leonardelli , María Fernanda Gallo , Evangelina Valeria Cores , Florencia Deschle","doi":"10.1016/j.neuarg.2024.09.003","DOIUrl":"10.1016/j.neuarg.2024.09.003","url":null,"abstract":"<div><h3>Introduction</h3><div>Various studies have demonstrated the existence of misconceptions about acquired brain injury (ABI) and its consequences in different populations.</div></div><div><h3>Objective</h3><div>To describe the presence of ABI misconceptions in the general population (GP), healthcare workers (HCW), and patient family members (FM) of the Autonomous City of Buenos Aires, through the application of a self-administered questionnaire.</div></div><div><h3>Subjects and methods</h3><div>The sample includes 333 participants. Three sub-samples are distinguished: 151 cases for GP, 89 for HCW, and 93 for FM. The ABI questionnaire translated into Spanish by Navarro-Main et al. was utilized, to which five items related to cognitive and emotional sequelae were added, resulting in a questionnaire comprising 24 statements (DCA-24).</div></div><div><h3>Results</h3><div>Statements with a high error rate for the GP group were 2, 5, 6, 8, and 15. For the HCW group: 2 and 15. Finally, for the FM group: statements 2, 5, and 15. Significant differences were observed between the sub-samples for the total correct responses (p<.001). Post hoc analysis evidenced a better overall positioning of HCW compared to GP and FM, with no differences between the latter (p<.001).</div></div><div><h3>Conclusions</h3><div>HCW demonstrated greater knowledge about acquired brain injury than GP and FM. In our context, being FM does not seem to increase awareness about this issue. Using the ABI-24, we found misconceptions related to cognitive impairments and amnesia, recovery, and physical and behavioral manifestations of acquired brain injury across the entire population.</div></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"16 4","pages":"Pages 180-186"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143104562","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}

引用次数: 0

Schwannoma melanótico intramedular asociado a siringomielia cervical. Reporte de caso clínico

Q4 Medicine

Neurologia Argentina

Pub Date : 2024-10-01 DOI: 10.1016/j.neuarg.2024.08.001

Marbelys Guevara Rodríguez , Bettsy Bell Bosch Rodríguez , Luis Ramón Crespo Rodríguez , Néstor Miguel Carvajal Otaño , Carla Belén Minaya Andino , José Enrique Vaquer Fernández , Daniel Artiles Martínez

Introduction

Intramedullary Melanotic Schwannomas are rare and little known tumors, with only 13 cases reported in the literature up to 2023.

Clinical case

We present a 58-year-old patient who came to the clinic with spastic quadriparesis of 6 months of evolution. As part of the study, a Nuclear Magnetic Resonance (MRI) of the cervical spine was indicated, confirming an intramedullary lesion associated with syringomyelia (proximal and distal). Treatment consisted of laminectomy, decompression, evacuation and drainage of the cavity. A biopsy of the tissue is taken for histopathological analysis, finally being reported as Melanotic Schwannoma.

Conclusion

We describe a rare case of Intramedullary Melanotic Schwannoma associated with Cervical Syringomyelia. The MRI imaging diagnosis of these tumors will determine an opportune neurosurgical treatment.

引用次数: 0

Rendimiento cognitivo, autopercepción y estrategias compensatorias en conductores mayores de 65 años

Q4 Medicine

Neurologia Argentina

Pub Date : 2024-10-01 DOI: 10.1016/j.neuarg.2024.10.001

Mariana Zanino , Iara Jácome , María Celeste Moyano , Diana Bruno , María Roca

Introduction

Due to the increase in life expectancy, everyday tasks, such as vehicular driving, will remain throughout time as an important part of the activities that adults carry out. This complex activity, which involves several cognitive functions, may be affected by the aging process. The person's capacity of perception of these changes might benefit the use of certain adaptive strategies so as to make up for the deficiency.

Objective

To analyze the cognitive performance and its relation to auto perception of their cognitive performance and the use of adaptive strategies developed by the active older drivers.

Method

Ninety four active drivers between 64 and 90 years old, from San Juan, Argentina, have been under an evaluation. The Cognitive Complaints Questionnaire was provided, a neuropsychological battery used to measure cognitive functions and a questionnaire on compensatory behavior while vehicular driving. The sample was divided into two groups according to the age for its analysis.

Results

Significant differences between groups have been observed in tests that claim detrimental cognitive functions in the oldest. Concerning the older group, less correspondence to Cognitive Complaints Questionnaire and to cognitive function tests have been observed. Regarding adaptive strategies, the elder group applies more strategies, in comparison to the young. No statistically significant relationship was observed between the perception of changes and the use of compensatory strategies.

Conclusion

The older group shows more cognitive impairment and less auto perception of change, in comparison to the younger group. Self-perception of cognitive changes is not necessarily associated with the incorporation of compensatory strategies.

{"title":"Rendimiento cognitivo, autopercepción y estrategias compensatorias en conductores mayores de 65 años","authors":"Mariana Zanino , Iara Jácome , María Celeste Moyano , Diana Bruno , María Roca","doi":"10.1016/j.neuarg.2024.10.001","DOIUrl":"10.1016/j.neuarg.2024.10.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Due to the increase in life expectancy, everyday tasks, such as vehicular driving, will remain throughout time as an important part of the activities that adults carry out. This complex activity, which involves several cognitive functions, may be affected by the aging process. The person's capacity of perception of these changes might benefit the use of certain adaptive strategies so as to make up for the deficiency.</div></div><div><h3>Objective</h3><div>To analyze the cognitive performance and its relation to auto perception of their cognitive performance and the use of adaptive strategies developed by the active older drivers.</div></div><div><h3>Method</h3><div>Ninety four active drivers between 64 and 90 years old, from San Juan, Argentina, have been under an evaluation. The Cognitive Complaints Questionnaire was provided, a neuropsychological battery used to measure cognitive functions and a questionnaire on compensatory behavior while vehicular driving. The sample was divided into two groups according to the age for its analysis.</div></div><div><h3>Results</h3><div>Significant differences between groups have been observed in tests that claim detrimental cognitive functions in the oldest. Concerning the older group, less correspondence to Cognitive Complaints Questionnaire and to cognitive function tests have been observed. Regarding adaptive strategies, the elder group applies more strategies, in comparison to the young. No statistically significant relationship was observed between the perception of changes and the use of compensatory strategies.</div></div><div><h3>Conclusion</h3><div>The older group shows more cognitive impairment and less auto perception of change, in comparison to the younger group. Self-perception of cognitive changes is not necessarily associated with the incorporation of compensatory strategies.</div></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"16 4","pages":"Pages 187-195"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143104561","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}

引用次数: 0

No toda inflamación orbital es celulitis: un caso clínico de una fístula carotídeo-cavernosa

Q4 Medicine

Neurologia Argentina

Pub Date : 2024-10-01 DOI: 10.1016/j.neuarg.2024.08.004

Santiago Gómez-Jordan , Brenda C. Amell Baron , Maira A. Polo Trujillo , María J. Mercado Celin , José Rosales-Manjarres , Cristian Eduardo Navarro , Diego Viasus

Introduction

A carotid-cavernous fistula is an abnormal connection between a branch of the carotid artery and the cavernous sinus that can result in severe ocular complications. Ophthalmic signs and symptoms of carotid-cavernous fistula are unspecific, thus difficulties in diagnosis may arise since it can initially be misidentified as primary orbital pathology.

Clinical case

A healthy 39-year-old male who developed diplopia, ipsilateral lacrimation and a pulsating left hemi-cranial headache. Periorbital inflammatory changes, diplopia, and painful ophthalmoplegia without alteration of visual acuity. A thorough diagnostic and imaging process where infectious and non-infectious diseases were investigated, finally identifying a carotid-cavernous fistula. The patient underwent endovascular transarterial embolization, for correction of the carotid-cavernous fistula. He achieved complete recovery of ocular mobility, with edema and pain resolution.

Conclusions

Carotid-cavernous fistula is an entity with multiple forms of presentation, and a high clinical suspicion is necessary for its diagnosis. Timely diagnosis and appropriate treatment can lead to complete recovery and prevent serious complications.

{"title":"No toda inflamación orbital es celulitis: un caso clínico de una fístula carotídeo-cavernosa","authors":"Santiago Gómez-Jordan , Brenda C. Amell Baron , Maira A. Polo Trujillo , María J. Mercado Celin , José Rosales-Manjarres , Cristian Eduardo Navarro , Diego Viasus","doi":"10.1016/j.neuarg.2024.08.004","DOIUrl":"10.1016/j.neuarg.2024.08.004","url":null,"abstract":"<div><h3>Introduction</h3><div>A carotid-cavernous fistula is an abnormal connection between a branch of the carotid artery and the cavernous sinus that can result in severe ocular complications. Ophthalmic signs and symptoms of carotid-cavernous fistula are unspecific, thus difficulties in diagnosis may arise since it can initially be misidentified as primary orbital pathology.</div></div><div><h3>Clinical case</h3><div>A healthy 39-year-old male who developed diplopia, ipsilateral lacrimation and a pulsating left hemi-cranial headache. Periorbital inflammatory changes, diplopia, and painful ophthalmoplegia without alteration of visual acuity. A thorough diagnostic and imaging process where infectious and non-infectious diseases were investigated, finally identifying a carotid-cavernous fistula. The patient underwent endovascular transarterial embolization, for correction of the carotid-cavernous fistula. He achieved complete recovery of ocular mobility, with edema and pain resolution.</div></div><div><h3>Conclusions</h3><div>Carotid-cavernous fistula is an entity with multiple forms of presentation, and a high clinical suspicion is necessary for its diagnosis. Timely diagnosis and appropriate treatment can lead to complete recovery and prevent serious complications.</div></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"16 4","pages":"Pages 205-209"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143104606","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}

引用次数: 0

Calcificación cerebral familiar primaria: reporte de caso 原发性家族性脑钙化：病例报告

Q4 Medicine

Neurologia Argentina

Pub Date : 2024-10-01 DOI: 10.1016/j.neuarg.2024.06.002

Jaime Alberto Osorio-Bedoya , Sandra Patricia Jurado-López , Paula Alejandra Cárdenas-Pérez , Oscar Andrés Virgüez-Ramos

Introduction

Primary familial brain calcification is a rare inherited neurological disorder characterized by calcifications in the stratopaliodental region. The clinical presentation is variable, the diagnosis is confirmed with imaging studies, genetic testing, and treatment is symptomatic.

Clinical case

A 49-year-old woman presented with blepharospasm, oromandibular movements, head tremor, rigidity of the right hemibody, memory failure and anxiety. Imaging study documented calcifications in the basal ganglia, cerebral white matter and cerebellum; the genetic test showed the mutation of the SLC20A2 gene.

Conclusions

Early diagnosis, adequate and timely management can improve the prognosis of the disease.

引用次数: 0

Sobrecarga del cuidador del paciente con ACV isquémico: correlación entre la sobrecarga y la discapacidad 缺血性脑卒中护理人员超负荷工作：超负荷工作与残疾之间的相关性

Q4 Medicine

Neurologia Argentina

Pub Date : 2024-07-01 DOI: 10.1016/j.neuarg.2024.06.001

Jenny Paola Garzón-Hernández , Jhan Carlos Molina-Armesto , Andrea Nathalia Almeida-Díaz , Linda Yurley Luna-Orduz , María Mónica Rangel-Gutiérrez , Federico Arturo Silva-Sieger

Introduction

To describe the caregiver burden of stroke survivors in Colombia.

Subjects and methods

Prospective descriptive study. 64 caregivers of caregivers of ischemic stroke were followed for the first 4 months, and caregiver burden was assessed using the Zarit scale.

Results

The mean age of the caregiver was 41 ± 11.7 years, with 83% being women. 53% of caregivers were children, and 18% were partners of the patient. 57.4% of caregivers were employed, with an average caregiving activity of 16 hours/day, 54% performed caregiving 7 days/week, and 49% were sole caregivers. In 98% of cases, there was no payment. The median Rankin-m score at 90 days for patients was 3. The mean Zarit scale score was 40.7 in the first month, 39.7 in the second month, 39.1 in the third month, and 35.7 in the fourth month. Caregivers of patients with Rankin-m ≥ 3 experienced moderate burden (ZCBI 46.1 ± 13 and 47.4 ± 15) at months 2 and 4 post-stroke, compared to patients with lower dependence (ZCBI 35.0 ± 11 and 30.2 ± 11) (P < .001).

Conclusions

There is a correlation between caregiver burden and patient disability. Most caregivers are part of the family nucleus, unemployed, dedicate the majority of their time to caregiving, and do not receive payment.

简介：目的描述哥伦比亚中风幸存者的护理负担。结果护理者的平均年龄为 41 ± 11.7 岁，83% 为女性。53%的护理者是患者的子女，18%是患者的伴侣。57.4%的照护者有工作，平均照护时间为每天 16 小时，54%的照护者每周照护 7 天，49%的照护者是唯一的照护者。98%的护理人员没有报酬。患者在 90 天内的 Rankin-m 评分中位数为 3 分。Zarit 量表的平均评分为：第一个月 40.7 分，第二个月 39.7 分，第三个月 39.1 分，第四个月 35.7 分。与依赖程度较低的患者（ZCBI 35.0 ± 11 和 30.2 ± 11）相比，Rankin-m ≥ 3 患者的照顾者在卒中后第 2 个月和第 4 个月的负担为中度（ZCBI 46.1 ± 13 和 47.4 ± 15）（P <.001）。大多数护理者是家庭核心的一部分，没有工作，将大部分时间用于护理，并且没有报酬。

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引用次数: 0

Variante faringocervicobraquial del síndrome de Guillain-Barré. Reporte de caso 格林-巴利综合征的咽颈肱变异型。病例报告

Q4 Medicine

Neurologia Argentina

Pub Date : 2024-07-01 DOI: 10.1016/j.neuarg.2024.07.001

Inés Alonso Murillo Castro , Jesús Cleofás Ramírez Campaña , Cíbeles Arrambí Díaz , Jesús Ariel Morales Barraza , Juan Antonio Lugo Machado , Rocío Milagro López López

Introduction

The pharyngo-cervico-brachial variant is characterized by dysphagia, weakness of the oropharyngeal, neck and arm muscles, with preserved sensitivity.

Clinical case

Patient presented with a 6-hour history of right he μnial headache, ipsilateral numbness and limitation in swallowing, which was exacerbated, in addition to diplopia and decreased strength in the thoracic limbs. Paraclinical and office studies rule out structural damage. The treatment required immunoglobulin, achieving clinical improvement.

Conclusions

In this case, we seek to present a rare entity where atypical symptoms must be considered, which require timely management to improve the prognosis.

导言咽喉颈肱变异型的特点是吞咽困难，口咽、颈部和手臂肌肉无力，但敏感性保留。临床病例患者因右侧头痛、同侧麻木和吞咽受限就诊 6 小时，病情加重，此外还伴有复视和胸肢力量减弱。临床旁和诊室检查排除了结构性损伤。结论本病例是一个罕见的病例，必须考虑非典型症状，及时治疗才能改善预后。

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