Impacto de la superación profesional en la meteoro labilidad de la enfermedad cerebrovascular / Climate change and cardiovascular disease: impact of professional development

Introducción: La enfermedad cerebrovascular (ECV) es una urgencia neurológica que en ocasiones se encuentra influenciada por los cambios del tiempo. La ECV isquémica es una emergencia médica con una ventana estrecha para su diagnóstico y tratamiento. El daño generado por esta enfermedad se estima mediante de la mortalidad, discapacidad e impacto social. Objetivo: Proponer un programa de capacitación basado en los efectos fisiopatológicos que provocan en los pacientes, cambios de tiempo y ritmo circadiano en el contexto de la adaptación al cambio climático. Método: Se desarrolló un estudio multietápico prospectivo en el Hospital Universitario Mártires del 9 de Abril del municipio Sagua la Grande entre los años 1993 a 2017. En la primera etapa se seleccionó un universo de 52 profesionales de la salud que atendieron a estos pacientes; en la segunda, 48 y en la tercera, 61. Resultados: El nivel de conocimiento del personal de salud en una primera etapa era inadecuado (78,85 %); en la tercera, este porcentaje disminuyó (14,75 %). Como resultado de la capacitación mejoraron los tiempos de atención a los pacientes con ECV a su llegada al hospital, y en la tercera, más del 50 % de los enfermos fueron atendidos antes de las seis horas de inicio de los síntomas. Conclusiones: La capacitación sobre ECV basada en los efectos fisiopatológicos que provocan en los pacientes el cambio climático y el ritmo circadiano disminuyó el tiempo de espera, y se asoció con una reducción de la morbilidad y la mortalidad, después de aplicar este programa.

Introduction: cerebrovascular disease (CVD) is a neurological emergency that is sometimes influenced by climate changes. Ischemic CVD is a medical emergency with a narrow window for diagnosis and treatment. The damage generated by this disease is estimated through mortality, disability and social impact. Objective: to propose a training program based on the pathophysiological effects in patients caused by changes in time and circadian rhythm in the context of adaptation to climate change. Methods: a multistage prospective study was conducted at "Mártires del 9 de Abril" University Hospital in Sagua la Grande municipality between 1993 and 2017. A universe of health professionals who cared for these patients was selected as follows: 52 in the first stage; 48 in the second stage, and 61 in the third ones. Results: the level of knowledge of health personnel in the first stage was inadequate (78.85%); this percentage decreased in the third stage (14.75%). Care times for CVD patients improved upon arrival at the hospital as a result of the training, as well as in the third ones, more than 50% of the patients were seen within six hours of the onset of symptoms. Conclusions: CVD training based on the pathophysiological effects of climate change and circadian rhythm on patients decreased waiting time, and was associated with reduced morbidity and mortality, after applying this program.

Choreiform movements and basal ganglia calcification as a presentation of Fahr's disease

Basal ganglia calcifications may be a radiological finding in approximately 20% of the general population. When they are associated with neuropsychiatric and motor symptoms in an idiopathic form, they are known as Fahr's disease. They are termed "Fahr's syndrome" when they are secondary to an identifiable and potentially treatable cause. In this report, we present the clinical case of a 69-year-old woman with the onset of subacute chorea, with no other associated symptoms, in whom extensive basal ganglia calcifications were found on neuroimaging, due to which metabolic disorders were subsequently ruled out. The objective is to contribute to the characterization of the potential motor manifestations which would give rise to clinical suspicion. Due to its low incidence and the little information on this condition in the region, we want to encourage documentation of other cases and the process for ruling out other differential diagnoses, in order to obtain more information on its actual epidemiology and signs and symptoms in Colombia. (Acta Med Colomb 2022; 48. DOI:https://doi.org/10.36104/amc.2023.2635).

Lesiones metabólicas bilaterales en núcleos basales: Serie de casos y Revisión de literatura

Introducción: Los núcleos basales son sustancias de materia gris, involucradas en la regulación de distintas funciones metabólicas y son vulnerables a situaciones de hipoxia y distintas situaciones patológicas. Los hallazgos imagenológicos no son específicos en la mayoría de los casos. Reporte de caso: Se reportan los casos de diez pacientes con lesiones metabólicas bilaterales en núcleos basales atendidos en un hospital de referencia nacional de Perú y se realiza una revisión de la literatura: 3 casos de Hipoparatiroidismo postquirúrgico, 2 de encefalopatía de Wernicke, 1 con degeneración hepatolenticular, 1 con mielinólisis extrapontina, 1 Intoxicación por metanol y 2 con encefalopatía Hipóxico-isquémica. Conclusión: Las lesiones bilaterales de núcleos basales producto de lesiones metabólicas son en gran parte inespecíficas, por lo que el contexto clínico es de vital importancia, así como las particularidades de los hallazgos imagenológicos, para el adecuado reconocimiento de las entidades etiológicas y su manejo oportuno.

Introduction: Basal nuclei are gray matter substances, involved in the regulation of different metabolic functions and are vulnerable to situations of hypoxia and different pathological situations. Imaging findings are not specific in most cases. Case of report: The cases of ten patients with bilateral metabolic lesions in the basal nuclei treated at a national reference hospital in Peru are reported, and a review of the literature is carried out: 3 cases of postoperative hypoparathyroidism, 2 of Wernicke's encephalopathy, 1 with hepatolenticular degeneration, 1 with extrapontine myelinolysis, 1 methanol intoxication and 2 with hypoxic-ischemic encephalopathy. Conclusion: Bilateral lesions of the basal nuclei as a result of metabolic lesions are nonspecific, so the clinical context is of vital importance, as well as the particularities of the imaging findings, for the adequate recognition of the etiological entities and their timely management.

Hypoparathyroidism and Fahr's syndrome: case series / Hipoparatireoidismo e síndrome de Fahr: série de casos

Abstract Hypoparathyroidism (HP) is a rare metabolic disorder and causes hypocalcemia because parathyroid hormone secretion is inadequate to mobilize calcium from bone and reabsorb calcium from kidney and gut. Anterior neck surgery is the most common cause of acquired HP and autoimmune HP is the next most common form in adults. The duration, severity, and rate of development of hypocalcemia determine the clinical presentation. A variety of organs can be affected by calcification, more frequently kidneys, but also joints, eyes, skin, vasculature, and other organ systems and, although rarely seen, intracerebral calcifications. We report four cases of bilateral basal ganglia calcifications (BGC) also known as Fahr's syndrome related to hypoparathyroidism. Fahr's syndrome is characterized by bilateral symmetrical calcification of areas of the brain that control movements including basal ganglia, thalamus, and others; it is a rare inherited or sporadic neurological disorder with a prevalence of less than 1/1.000.000. Main symptoms related to bilateral BGC include extra-pyramidal and cerebellar disorders, cognitive impairment, epileptic seizures, and psychiatric changes. BGC has been established as a possible outcome of HP. Its prevalence, demonstrated in the HP cohorts, varied significantly from 12 up to 74%. Currently, computed tomography (CT) is the most valuable method for diagnosis. The treatment include symptomatic support and identification of causes, but there is no specific treatment limiting the progression of calcification in the basal ganglia. Especially in HP, an early treatment can prevent calcification and neurophysiological disorders.

Resumo O hipoparatireoidismo (HP) é um distúrbio metabólico raro e causa hipocalcemia, pois a secreção do paratormônio é inadequada para mobilizar o cálcio dos ossos e reabsorver o cálcio dos rins e intestino. A cirurgia cervical anterior é a causa mais comum de HP adquirido. O HP autoimune é a segunda causa mais comum em adultos. A duração, gravidade e taxa de desenvolvimento da hipocalcemia determinam a apresentação clínica. Diversos órgãos podem ser afetados pela calcificação, mais frequentemente os rins, mas também articulações, olhos, pele, vasculatura e outros órgãos e, embora raramente vista, calcificações intracerebrais. Relatamos quatro casos de calcificações dos gânglios da base (CGB) bilaterais, também conhecidas como síndrome de Fahr relacionadas ao hipoparatireoidismo. A síndrome de Fahr é caracterizada pela calcificação bilateral simétrica de áreas do cérebro que controlam os movimentos incluindo os gânglios da base, tálamo e outros; é um distúrbio neurológico raro, hereditário ou esporádico, com uma prevalência 1/1.000.000. Os principais sintomas relacionados à CGB bilateral incluem distúrbios extrapiramidais e cerebelares, comprometimento cognitivo, convulsões e alterações psiquiátricas. A CGB foi estabelecida como uma possível consequência do HP. Sua prevalência, demonstrada nas coortes de HP, variou significativamente de 12 a 74%. Atualmente, a tomografia computadorizada (TC) é o método mais valioso para o diagnóstico. O tratamento inclui suporte sintomático e identificação de causas, mas não há tratamento específico limitando a progressão da calcificação nos gânglios da base. Especialmente no HP, um tratamento precoce pode prevenir calcificações e distúrbios neurofisiológicos.

Unusual Involvement of Basal Ganglia and Dentate Nucleus in Children with Acute Encephalopathy with COVID-19

Children account for 1% to 5% of diagnosed COVID-19 infection with relatively mild presentation compared to adults. The frequency of neurological involvement in acute COVID-19 infection in children is unclear. COVID-19 is also considered to be a neurotropic virus, but so far, in the pediatric age group, very few cases with involvement of basal ganglia and no case of dentate nucleus involvement have been reported in the literature. The present paper reports two cases of acute encephalopathy with COVID-19, the frst case with basal ganglia involvement and the second with dentate nucleus involvement. Both cases required aggressive management and had complete neurological recovery on follow-up. Hence, these cases are reported to make everyone aware of the neurological presentation with atypical neuroimaging fnding of acute COVID-19 infection in the pediatric age group; timely management improves the outcome.

Necrosis en espejo de ganglios basales en la enfermedad de la orina con olor a jarabe de arce. Presentación de un caso / Mirror necrosis of basal ganglia in maple syrup urine disease. A case report

RESUMEN La enfermedad de la orina con olor a jarabe de arce es una enfermedad genética autosómica recesiva, cerebral degenerativa. Es causada por un déficit en la actividad de la deshidrogenasa de los cetoácidos de cadena ramificada, que provoca inadecuado almacenamiento de los tres aminoácidos esenciales de dicha cadena. Esto genera una neurotoxicidad severa que puede llevar a la muerte. Se manifiesta clínicamente por deterioro neurológico, retraso psicomotor, problemas de alimentación, orina con olor característico. Sus consecuencias cerebrales pueden ser definidas mediante tomografía axial computarizada. Este artículo tiene como objetivo presentar un caso de enfermedad de la orina con olor a jarabe de arce con hipodensidad bilateral de los ganglios basales por necrosis en espejo, detectado mediante estudio tomográfico. Se trata de una paciente femenina, de 9 años de edad con cuadro anterior de cetoacidosis no diabética. Posterior a la realización de apendicectomía, comenzó con cuadro comatoso que requirió estudio tomográfico mediante el cual se constató edema cerebral. Evolucionó tórpidamente, por lo que requirió nuevo estudio tomográfico que demostró empeoramiento de las condiciones neurológicas al reflejarse en la imagen hipodensidad bilateral a nivel de los núcleos basales por necrosis. La enfermedad de la orina con olor a jarabe de arce es una afección rara, con diversas formas clínicas. Requiere de estudios de laboratorio que la confirmen e imágenes como tomografía computarizada que, como en este caso, ayuden a evidenciar el daño neurológico. Fue muy característica la hipodensidad de ganglios basales asociada a edema cerebral.

ABSTRACT Maple syrup urine disease is an autosomal recessive genetic degenerative brain disease. It is caused by a deficit in branched-chain ketoacid dehydrogenase activity, which causes inadequate storage of the three essential amino acids of said chain. This generates severe neurotoxicity that can lead to death. It is clinically manifested by neurological deterioration, psychomotor retardation, feeding problems, urine with a characteristic odor. Its cerebral consequences can be defined by computerized axial tomography. This article aims to present a case of maple syrup urine disease with bilateral hypodensity of the basal ganglia due to mirror necrosis, detected by tomographic study. This is a 9-years-old female patient with a history of non-diabetic ketoacidosis. After the appendectomy, she began with a coma that required a tomographic study, which revealed cerebral edema. She evolved torpidly, requiring a new tomographic study that showed worsening of the neurological conditions as bilateral hypodensity at the level of the basal nuclei due to necrosis was reflected in the image. Maple syrup urine disease is a rare condition with various clinical forms. It requires laboratory studies to confirm it and images such as computed tomography that, as in this case, help to show the neurological damage. The hypodensity of the basal ganglia associated with cerebral edema was very characteristic.

Comparación del rendimiento de pruebas cognitivas en pacientes con Enfermedad de Parkinson con y sin estimulación cerebral profunda / Comparison of the performance of cognitive tests in Parkinson Disease patients with and without Deep Brain Stimulation

Resumen Los pacientes diagnosticados con Enfermedad de Parkinson (EP) presentan alteraciones motoras concomitantes a otras alteraciones de tipo cognitivo, conductual o emocional. Una de las alternativas al tratamiento farmacológico es la estimulación cerebral profunda (ECP). Existen reportes de alteraciones en el rendimiento de tareas cognitivas tras procedimiento de ECP, lo que podría sugerir que el procedimiento es responsable de estos cambios cognitivos. El objetivo del estudio fue comparar los resultados del rendimiento en pruebas cognitivas de pacientes con EP de dos grupos (con ECP y sin ECP). Se recolectaron los resultados de 47 pacientes (n = 16 ECP; n = 31 sin ECP) durante los años de 2011 hasta 2015. Dentro de las funciones y variables evaluadas se encuentran: categorización visual, flexibilidad cognitiva, solución de problemas, atención selectiva, velocidad de procesamiento, inhibición conductual y calidad de vida. En general, no se encontraron diferencias significativas entre los grupos en las funciones evaluadas. En el grupo de participantes con ECP, se encontró mayor cantidad de correlaciones entre las pruebas de semejanzas y las de dígitos inversos, listas de palabras, búsqueda de símbolos y las subpruebas del Wisconsin Card Sorting Test. Así mismo, en los pacientes con ECP se presentó una percepción menor de calidad de vida asociada al tiempo de la enfermedad en comparación con el grupo sin ECP. En conclusión, estos resultados son congruentes con estudios similares de evaluación neuropsicológica y se discute el papel del tratamiento de estimulación en los pacientes, los cuales no siempre tienen un impacto positivo sobre la calidad de vida percibida.

Abstract Patients diagnosed with Parkinson's disease show motor alterations together to cognitive, behavioral, and emotional disturbances. An alternative treatment to the exclusive pharmacological medication is the Deep Brain Stimulation procedure (DBS). Some studies have shown altered behavioral patterns after DBS device implantation, suggesting a relationship between a particular performance in cognitive tests derived from the DBS procedure. Our study aimed to compare the performance of cognitive tests in Parkinson's disease patients with and without DBS. Results were analyzed from 47 patients (n = 16 DBS; n = 31 without DBS) in a range since 2011 to 2015. Functions tested were visual categorization, cognitive flexibility, problem solutions, selective attention, cognitive processing speed, behavioral inhibition, and quality of life. In general, there are non-significative differences between groups in functions tested. However, correlations were found depending on the group (DBS or without DBS patients), with more positive correlations inside the DBS group between the similarity test and inversed digits, list of words, symbol search and the sub-test of the Wisconsin Card Sorting Test. In addition, the DBS group showed a low perception of the quality of life associated with the disorder´s time compared to the without DBS group. In conclusion, these results are congruent with similar studies of neuropsychological evaluation, and the role of treatment is discussed below the perception of the quality of life.

Correlation analysis of total cerebrovascular disease burden and cognitive impairment in patients with acute basal ganglia infarction / 中国神经精神疾病杂志

Objective To investigate the correlation between total burden of cerebral small vessel disease (CSVD) and cognitive impairment in patients with acute basal ganglia infarction. Methods Patients with acute basal ganglia infarction for the first time were enrolled, and the general data of the enrolled patients were collected. Patients were assessed by Montreal cognitive assessment (MoCA). Based on MoCA assessment, patients were then divided into cognitive impairment (CI) group and non-cognitive impairment (NCI) group. CSVD total load scores were conducted afterwards in order to analyze the correlation between the total load of different degrees of cerebral small vessel disease and cognitive impairment. Results A total of 178 patients were enrolled in this study: 135 in the CI group and 43 in the NCI group. There were significant differences in age (t=4.11, P=0.04) but not in high-density lipoprotein (t=2.92, P=0.09), and glycosylated hemoglobin C (t=3.02, P=0.08) between the two groups. The infarct volume was larger in the CI group (CI group: 424.72±36.55, NCI group: 227.02±34.62, t=4.022, P=0.046). There were significant differences in a sing1e lentiform nucleus (χ2=19.08, P<0.01), caudal Nucleus(χ2=9.97, P<0.01), infarction at the site of internal capsule(χ2=3.85, P=0.05), the infarct site involved lentiform nucleus, internal capsule and caudate nucleus at(χ2=4.30, P=0.04), and numbers of patients with moderate-to-severe internal carotid artery stenosis (χ2=4.14, P=0.04) as well as numbers of patients with moderate-to-severe intracranial artery stenosis (χ2=4.19, P=0.04). Similarly, there were significant differences in CSVD total burden (t=3.62, P<0.01), deep white matter hyperintensity (t=9.02, P<0.01), and cerebral microbleeds (t=5.54, P=0.02) between CI group and NCI group. The comparisons on MoCA score, visuospatial and execution, attention, language, generalization and abstraction, memory and orientation but not naming were statistically significant between the two groups. The logistic regression equation showed that CSVD total burden (OR=0.316, 95%Cl: 0.185~0.541, P<0.001), age (OR=0.924, 95%Cl: 0.884~0.967, P=0.001) and infarct volume (OR=0.924, 95%Cl: 0.884~0.967, P=0.001), (95%Cl: 1.000~1.003, P=0.047) was significantly associated with cognitive impairment in patients with acute basal ganglia infarction. Conclusion High CSVD total load score, older age and larger infarct volume may be risk factors for cognitive impairment in patients with acute basal ganglia infarction.

Comparison of two surgical treatments for hypertensive basal ganglia hemorrhage / 中国基层医药

Objective:To investigate the efficacy of minimally invasive puncture and drainage versus small bone window craniotomy in the treatment of hypertensive basal ganglia hemorrhage. Methods:Seventy-three patients with hypertensive basal ganglia hemorrhage who received treatment in Hequ County People's Hospital from April 2018 to December 2020 were included in this study. They were divided into a minimally invasive puncture and drainage group ( n = 38) and a small bone window craniotomy group ( n = 35) according to surgical methods. Clinical efficacy and postoperative complications were compared between the two groups. Results:At 3 months post-surgery, the National Institutes of Health Stroke Scale score in the minimally invasive puncture and drainage group was significantly lower than that in the small bone window craniotomy group [(3.58 ± 1.23) points vs. (6.87 ± 0.97) points, t = 12.62, P < 0.001]. Barthel index in the minimally invasive puncture and drainage group was significantly higher than that in the small bone window craniotomy group [(62.15 ± 6.78) points vs. (43.15 ± 7.15) points, t = 11.65, P < 0.001]. The total response rate in the minimally invasive puncture and drainage group was significantly higher than that in the small bone window craniotomy group [92.11% (35/38) vs. 74.3% (26/35), χ2 = 4.21, P < 0.05]. The incidence of complications in the minimally invasive puncture and drainage group was significantly lower than that in the small bone window craniotomy group [5.2% (2/38) vs. 25.7% (9/35), χ2 = 6.18, P < 0.05]. Conclusion:Minimally invasive puncture and drainage have better clinical efficacy and fewer postoperative complications in the treatment of hypertensive basal ganglia hemorrhage than small bone window craniotomy. Therefore, minimally invasive puncture and drainage for the treatment of hypertensive basal ganglia hemorrhage are worthy of clinical promotion.

The effect of drilling and drainage based on spiral CT-guided on hematoma clearance and serum inflammatory factors levels in patients with basal ganglia region hypertensive cerebral hemorrhage / 中国医师进修杂志

Objective:To investigate the effect of drilling and drainage based on spiral CT-guided on hematoma clearance and serum inflammatory factors levels in patients with basal ganglia region hypertensive cerebral hemorrhage.Methods:A total of 112 patients with basal ganglia region hypertensive cerebral hemorrhage admitted to Lanling County People′s Hospital from May 2017 to February 2020 were selected as the research objects, and 56 patients performed traditional craniotomy(craniotomy group), and 56 patients used spinal CT to locate the hematoma area and puncture point before the surgery, and performed drilling and drainage according the scanning results (drilling group). The operation conditions, hematoma volume changes and hematoma clearance rate in two groups were compared. The levels of neuron-specific enolase (NSE), specific protein S100B, interleukin(IL)-17, IL-1β and C-reactive protein (CRP) in two groups before and after the treatment for 1 month were compared. The scores of National Institute of Health Stroke Scale (NIHSS) and Barthel Index Scale(BI) in two groups before and after the treatment for 3 months were compared.Results:The operative time, intraoperative blood loss, postoperative drainage volume in the drilling group were lower than those in the craniotomy group: (1.21 ± 0.28) h vs. (2.43 ± 0.37) h, (131.98 ± 39.51) ml vs. (231.64 ± 47.65) ml, (41.05 ± 5.68) ml vs. (62.93 ± 7.83) ml; the hematoma clearance rate in the drilling group was higher than that in the craniotomy group: (89.57 ± 6.15)% vs. (77.95 ± 5.92)%, there were statistical differences ( P<0.05). After treatment for 1 month, the levels of S100B, NES, IL-17, IL-1β, CRP in the drilling group were lower than those in the craniotomy group: (0.49 ± 0.18) μg/L vs. (0.67 ± 0.24) μg/L, (15.32 ± 1.67) μg/L vs. (17.61 ± 1.59) μg/L, (147.38 ± 14.86) ng/L vs. (172.59 ± 12.94) ng/L, (84.17 ± 10.48) ng/L vs. (107.43 ± 9.35) ng/L, (33.78 ± 4.77) mg/L vs. (47.01 ± 4.15) mg/L, there were statistical differences ( P<0.05). After treatment for 3 months, the scores of NIHSS in the drilling group was lower than that in the craniotomy group and the scores of BI in thedrilling group was higher than that in the craniotomy group: (3.57 ± 2.13) scores vs. (7.83 ± 2.96) scores, (84.56 ± 8.16) scores vs. (67.43 ± 6.95) scores, there were statistical differences ( P<0.05). The complication rate in the two groups had no statistically differences ( P>0.05). Conclusions:Compared with traditional craniotomy, the drilling and drainage based on spiral CT-guided on hematoma clearance has the advantages of shorter operation time, less injury, better regulation of inflammation and better improvement of neurological function.

Post-varicella arterial ischemic stroke in children and neurocognitive performance: a 4-year follow-up study

ABSTRACT Objective To analyze data from children who were previously healthy and presented with post-varicella arterial ischemic stroke upon arrival when admitted to the emergency room, with focus on the clinical/laboratory aspects, and neurocognitive performance after four-year follow-up. Methods Seven children presenting with arterial ischemic stroke after varicella were evaluated at pediatric emergency services in the city of São Paulo (SP), Brazil. Ischemic stroke was determined by magnetic resonance imaging/magnetic resonance angiography in a topography compatible with the areas supplied by the middle cerebral or internal carotid arteries. IgG-class antibodies against varicella zoster virus and varicella-zoster virus DNA by polymerase chain reaction in cerebrospinal fluid were tested. Patients with prothrombotic conditions were excluded. The Pediatric Stroke Outcome Measure was applied upon admission and 4-years after the stroke. Results All patients (age range: 1.3 to 4 years) included presented chickenpox 5.1 (±3.5) months before. All patients had analysis of anti-varicella-zoster-virus-IgG in cerebrospinal fluid, but only three (43%) had a positive result. Of the patients 43% had no vascular lesions identified in magnetic resonance angiography. All patients showed improvement in their sequela scores. After 4 years, five patients displayed good evolution in the Pediatric Stroke Outcome Measure, and only one patient presented with a score of 2 in the sensorimotor and cognition areas. No recurrence of arterial ischemic stroke was observed. Conclusion We reinforced the non-progressive course of post-varicella arterial ischemic stroke after 4-year follow-up. The presence of varicella-zoster-virus-DNA detected by polymerase chain reaction, and/or intrathecal IgG antibody against varicella zoster virus, and angiopathy location in magnetic resonance angiography were not determining for the diagnosis. Invasive tests, with low sensitivity, should be well considered in the diagnosis of post-varicella arterial ischemic stroke.

Analysis of a case of corticobasal degeneration started with primary progressive aphasia / 中华神经科杂志

Objective:Through a typical case of corticobasal degeneration (CBD) with primary progressive aphasia (PPA) to analyze the clinical characteristics of CBD and the special manifestations of aphasia with that disease.Methods:Retrospective analysis was performed on a patient with PPA based CBD who was admitted to the First Affiliated Hospital, Sun Yat-sen University in July 2020 to summarize the clinical features and diagnostic thinking of CBD.Results:The patient was a 59-year-old male, manifested rapidly progressive dysfunction of language and memory function. The aphasia was mainly featured as slow speech, reduced content and grammatical errors, and diagnosed as PPA, non-fluent grammatical variation. The imaging results showed the atrophy of the left frontal lobe, parietal lobe, basal ganglia and thalamus, coupled with the reduction in 18F-fluorodeoxyglucose radioactive uptake. The patient was finally diagnosed as possible CBD. Conclusions:PPA as the initial manifestation of CBD is very rare in clinical practice. The high non-specificity of clinical features and the lack of typical motor symptoms result in the difficulty of correct diagnosis of CBD. Timely functional imaging in nuclear medicine and reliable biomarkers help to facilitate early diagnosis of atypical CBD.

Clinical and imaging features of basal ganglia germinoma in children and adolescents / 中国医师杂志

Objective:To investigate the clinical and imaging features of basal ganglia germinoma in children and adolescents, so as to improve the accuracy of early diagnosis.Methods:The clinical symptoms and imaging findings of 10 cases of basal ganglia germinoma diagnosed by surgical examination or diagnostic radiotherapy in Xinhua Hospital Affiliated to Medical College of Shanghai Jiaotong University from January 2010 to December 2019 were analyzed retrospectively.Results:There were 9 males and 1 female, aged from 5 to 15 years, with an average age of 9.7 years.There were 10 cases of limb weakness or mild hemiplegia, 1 case of headache and vomiting, and 1 case of extrapyramidal tract sign. There were 9 cases of computed tomography (CT) examination, 5 cases of high density, 4 cases of mixed density, and 3 cases of intrafocal calcification. 10 cases of routine magnetic resonance imaging (MRI) examination, MR T1-weighted imaging (T1WI): 5 cases of low signal, 3 cases of slightly low signal, 1 case of equal low signal, 1 case of equal slightly low signal; MR T2-weighted imaging (T2WI): 3 cases of high signal, 5 cases of slightly high signal, 2 cases of high and low mixed signal; T2 fluid attenuated inversion recovery (T2FLAIR): 1 case of low signal, 2 cases of slightly high signal, 1 case of iso-high signal, 5 cases of high signal, 1 case of high and low mixed signal; Diffusion weighted imaging (DWI): 2 cases of low signal, 1 case of equal signal, 1 case of equal slightly high signal, 4 cases of slightly high signal, 2 cases of high signal; 1 case of functional imaging susceptibility-weighted imaging (SWI): 1 case of low signal; 10 cases of MRI enhancement: 2 cases of no enhancement, 5 cases of mild enhancement, 3 cases of moderate/obvious enhancement, and the enhancement methods can be seen in spot, patch, mass and ring enhancement; Functional imaging magnetic resonance angiography (MRA) in 2 cases: 1 case had slender middle cerebral artery, fewer branch arteries than the opposite side, and 1 case showed no obvious abnormality; 2 cases of positron emission (PET)-CT: the metabolism of methionine (MET) on the affected side was significantly increased in 2 cases.Conclusions:Germinoma in the basal ganglia of children and adolescents are more common in men, with weakness or mild hemiplegia as the main symptom. The imaging findings have certain characteristics. Imaging findings combined with relevant clinical data can improve the accuracy of early diagnosis of germinoma in the basal ganglia.

A case report of biotin-thiamine-responsive basal ganglia disease / 中华神经科杂志

Biotin-thiamine-responsive basal ganglia disease is a rare treatable autosomal recessive neurometabolic disorder caused by mutations in SLC19A3 gene, encoding a transporter of thiamine across the plasma membrane. In the present study, a 29-year-old male patient with epilepsy as the first symptom, accompanied by hypokinesia, extraocular muscle paralysis and delayed dystonia was reported. The brain magnetic resonance imaging revealed abnormal symmetrical signals of bilateral caudate nucleus and lenticular nucleus. The patient was diagnosed as biotin-thiamine-responsive basal ganglia disease by gene detection. After treatment with biotin and thiamine, the symptoms were relieved and the brain lesions subsided.

Surgical treatment of severe spontaneous intracerebral hemorrhage in the basal ganglia in young adults: a comparison between transsylvian-transinsular and transcortical-transtemporal approach / 国际脑血管病杂志

Objective:To investigate the difference in efficacy between transsylvian-transinsular approach and transcortical-transtemporal approach for hematoma evacuation in the treatment of severe basal ganglia intracerebral hemorrhage in young adults.Methods:Young adult patients with severe intracerebral hemorrhage in the basal ganglia region underwent craniotomy hematoma removal in Ankang Central Hospital from February 2012 to February 2021 were retrospectively enrolled. The Glasgow Outcome Scale score was used to evaluate the outcome at 6 months after onset. 4-5 were defined as good outcome and 1-3 were defined as poor outcome. Multivariate logistic regression analysis was used to determine the independent influencing factors of the poor outcomes. Results:A total of 51 patients were enrolled. Their median age was 41 (interquartile range 39-43) years, and 29 were men (56.8%). The median Glasgow Coma Scale score at admission was 6.0 (interquartile range 5.5-7.0), and the median baseline hematoma volume was 38.0 ml (34.5-47.5 ml). Twenty-one patients (41.2%) were in the transsylvian-transinsular approach group and 30 (58.8%) were in the transcortical-transtemporal approach group. There were no significant differences in demographics, vascular risk factors and baseline clinical data between the transsylvian-transinsular approach group and the transcortical-transtemporal approach group. Compared with the transcortical-transtemporal approach group, the amount of intraoperative bleeding and hematoma residue in the transsylvian-transinsular approach group were less, the proportion of patients requiring decompressive craniectomy was lower (33.3% vs. 63.3%; χ2=4.449, P=0.035), and the duration of dehydration medication and hospital stay were shorter (all P<0.05). However, there was no significant difference in the good outcome rate between the two groups (66.7% vs. 56.7%; χ2=0.518, P=0.472). Multivariate logistic regression analysis showed that lower scores of Glasgow Coma Scale at admission (odds ratio 0.128, 95% confidence interval 0.017-0.977; P=0.047) and longer hospital stay (odds ratio 1.402, 95% confidence interval 1.065-1.844; P=0.016) were independently associated with the poor outcomes. Conclusion:For young adult patients with severe basal ganglia intracerebral hemorrhage who underwent hematoma removal, although there was no significant difference between the outcomes of patients with transsylvian-transinsular approach and transcortical-transtemporal approach, the former had more advantages.

Movement Disorders in Brazil: the seminal contributions of Luiz Augusto Franco de Andrade and Egberto Reis Barbosa / Distúrbios dos Movimentos no Brasil: as contribuições exponenciais de Luiz Augusto Franco de Andrade e Egberto Reis Barbosa

ABSTRACT The major advances in the area of movement disorders in Brazil in recent years were driven by the work of Luiz Augusto Franco de Andrade and Egberto Reis Barbosa. This historical review describes the contributions made by these researchers, physicians, and educators to the development of this field in Brazil.

RESUMO Os maiores avanços observados na área de distúrbios do movimento nos últimos anos no Brasil teve como fator catalizador a atuação exponencial dos professores Luiz Augusto Franco de Andrade e Egberto Reis Barbosa. Esta revisão histórica enfatizou as contribuições desses pesquisadores, médicos e professores para o desenvolvimento da área no Brasil.

Hemibalismo en el síndrome hiperglucémico hiperosmolar no cetósico

RESUMEN Se trata de una paciente del sexo femenino de 71 años de edad con diagnóstico de diabetes mellitus tipo 2 en tratamiento irregular con antidiabéticos orales, que acude al Servicio de urgencias por movimientos anormales del hemicuerpo derecho, interpretados como hemibalismo con componentes coreicos, de 3 días de evolución. En el laboratorio se detecta hiperglicemia no cetósica y en la tomografía de cráneo se evidencia hiperdensidad en ganglios caudado y lenticular lado izquierdo. Tras el adecuado control de la glicemia y dosis bajas de haloperidol la paciente evolucionó favorablemente, con disminución de los movimientos anormales.

ABSTRACT This is a 71-year-old female patient with a diagnosis of type 2 diabetes mellitus undergoing irregular treatment with oral antidiabetics, who came to the emergency department due to abnormal movements of the right hemibody, interpreted as hemiballism with choreic components, with 3 days. of evolution. Nonketotic hyperglycemia is detected in the laboratory and hyperdensity in the caudate and lenticular ganglia on the left side is evidenced on the skull tomography. After adequate glycemic control and low doses of haloperidol, the patient evolved favorably, with a decrease in abnormal movements.

Enfermedad de Wilson: experiencia de un centro de referencia en Colombia / Wilson's disease: Experience of a reference center in Colombia

Resumen Introducción: la enfermedad de Wilson es una enfermedad heterogénea causada por mutaciones en el gen ATP7B. La presentación clínica es variable, en fenotipos hepáticos y neuropsiquiátricos. El objetivo de este estudio es describir una cohorte retrospectiva de pacientes. Materiales y métodos: estudio retrospectivo descriptivo de pacientes atendidos en el Hospital Pablo Tobón Uribe desde enero de 2004 a septiembre de 2017. Resultados: se reportaron 27 pacientes, 17 hombres y 10 mujeres. El tiempo de seguimiento medio fue de 2,18 años, el 40% presentó síntomas neurológicos; el 29%, psiquiátricos; y el 85%, alteración hepática. En el laboratorio, el 85% presentó ceruloplasmina baja; 55%, cobre urinario alto; en casos con biopsia hepática, 7 tenían depósito de cobre en coloraciones especiales. En neuroimágenes, el 84% presentó hallazgos sugestivos de enfermedad de Wilson y en 3 casos se documentó una mutación genética patogénica. Durante el seguimiento, el 51% mejoró clínica o bioquímicamente, el 11% se mantuvo estable y el 18% se deterioró. El 88% de los casos sobrevivió al final del seguimiento. Conclusiones: este estudio es la cohorte retrospectiva más grande de Colombia. Los resultados son base para nuevos estudios poblacionales buscando de manera activa la enfermedad para documentarla en su fase preclínica y, de este modo, impactar en el pronóstico.

Abstract Introduction: Wilson's disease is a heterogeneous disorder caused by mutations in the ATP7B gene. Its clinical presentation is variable in hepatic and neuropsychiatric phenotypes. The aim of this study is to describe a retrospective cohort of patients. Materials and methods: A descriptive retrospective study was carried out in patients treated at the Hospital Pablo Tobón Uribe from January 2004 to September 2017. Results: 27 patients were reported, 17 men and 10 women. The mean follow-up time was 2.18 years. 40% of the patients had neurological symptoms, 29% psychiatric symptoms, and 85% hepatic impairment. Lab tests showed that 85% had low ceruloplasmin and 55% had increased urinary copper. In cases that underwent liver biopsy, 7 had special copper colorations. Neuroimaging revealed that 84% had findings suggestive of Wilson's disease and a pathogenic genetic mutation was documented in 3 cases. During follow-up, 51% improved clinically or biochemically, 11% remained stable, and 18% deteriorated. 88% of cases survived at the end of follow-up. Conclusions: This study is the largest retrospective cohort carried out in Colombia. The results are the basis for new population-based studies actively seeking this disease to describe its preclinical development and thus impact prognosis.

Leigh syndrome in an infant: autopsy and histopathology findings

Leigh syndrome is an inherited neurodegenerative disorder of infancy that typically manifests between 3 and 12 months of age. The common neurological manifestations are developmental delay or regression, progressive cognitive decline, dystonia, ataxia, brainstem dysfunction, epileptic seizures, and respiratory dysfunction. Although the disorder is clinically and genetically heterogeneous, the histopathological and radiological features characteristically show focal and bilaterally symmetrical, necrotic lesions in the basal ganglia and brainstem. The syndrome has a characteristic histopathological signature that helps in clinching the diagnosis. We discuss these unique findings on autopsy and radiology in a young infant who succumbed to a subacute, progressive neurological illness suggestive of Leigh syndrome. Our case highlights that Leigh syndrome should be considered in the differential diagnosis of infantile-onset, subacute neuroregression with dystonia and seizures, a high anion gap metabolic acidosis, normal ketones, elevated lactates in blood, brain, and urine, and bilateral basal ganglia involvement.