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Abstract Background Sjogren-Larsson syndrome (SLS) is a neurocutaneous disease with an autosomal recessive inheritance, caused by mutations in the gene that encodes fatty aldehyde dehydrogenase (ALDH3A2), clinically characterized by ichthyosis, spastic diplegia, and cognitive impairment. Brain imaging plays an essential role in the diagnosis, demonstrating a nonspecific leukoencephalopathy. Data regarding brain atrophy and grey matter involvement is scarce and discordant. Objective We performed a volumetric analysis of the brain of two siblings with SLS with the aim of detecting deep grey matter nuclei, cerebellar grey matter, and brainstem volume reduction in these patients. Methods Volume data obtained from the brain magnetic resonance imaging (MRI) of the two patients using an automated segmentation software (Freesurfer) was compared with the volumes of a healthy control group. Results Statistically significant volume reduction was found in the cerebellum cortex, the brainstem, the thalamus, and the pallidum nuclei. Conclusion Volume reduction in grey matter leads to the hypothesis that SLS is not a pure leukoencephalopathy. Grey matter structures affected in the present study suggest a dysfunction more prominent in the thalamic motor pathways.
Resumo Antecedentes A Síndrome de Sjogren-Larsson (SSL) é uma doença neurocutânea de herança autossômica recessiva, causada por mutações no gene que codifica a aldeído graxo desidrogenase (ALDH3A2), caracterizada clinicamente por ictiose, diplegia espástica e comprometimento cognitivo. A imagiologia cerebral desempenha um papel essencial no diagnóstico, demonstrando uma leucoencefalopatia inespecífica. Dados sobre atrofia cerebral e envolvimento da substância cinzenta são escassos e discordantes. Objetivo Realizamos uma análise volumétrica do cérebro de dois irmãos com SLS com o objetivo de detectar núcleos profundos de substância cinzenta, substância cerebral cinzenta e redução do volume do tronco encefálico nestes pacientes. Métodos Os dados de volume obtidos da ressonância magnética (RM) cerebral dos dois pacientes usando um software de segmentação automática (Freesurfer) foram comparados com os volumes de um grupo controle saudável. Resultados Redução de volume estatisticamente significativa foi encontrada no córtex do cerebelo, no tronco cerebral, no tálamo e nos núcleos pálidos. Conclusão A redução do volume da substância cinzenta leva à hipótese de que a SSL não é uma leucoencefalopatia pura. As estruturas da substância cinzenta afetadas no presente estudo sugerem uma disfunção mais proeminente nas vias motoras talâmicas.
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Thalamus plays an important role in the connection of sensory, motor and cognitive functions between multiple subcortical regions and cerebral cortex. In recent years, the important role of thalamus in cognitive function has attracted more and more attention. This article reviews the related research progress of thalamic infarction and cognitive impairment.
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The thalamus plays an important role in the process of production of memory and emotion.Patients with thalamic stroke have memory and emotional disorders.Memory disorders are mainly manifested in the generation of hallucinatory memory and amnesia,while emotional disorders are mainly manifested in the effect of negative emotions.
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The thalamus plays an important role in the process of production of memory and emotion. Patients with thalamic stroke have memory and emotional disorders. Memory disorders are mainly manifested in the generation of hallucinatory memory and amnesia, while emotional disorders are mainly manifested in the effect of negative emotions.
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BACKGROUND: Recently, modern technology such as diffusion tensor imaging (DTI), neuro-navigation and intraoperative neurophysiological monitoring (IOM) have been actively adopted for the treatment of thalamic tumors. We evaluated surgical outcomes and efficacy of the aforementioned technologies for the treatment of pediatric thalamic tumors. METHODS: We retrospectively reviewed clinical data from 37 children with thalamic tumors between 2004 and 2017. There were 44 operations (27 tumor resections, 17 biopsies). DTI was employed in 17 cases, neuro-navigation in 23 cases and IOM in 14 cases. All diagnoses were revised according to the 2016 World Health Organization Classification of Tumors of the Central Nervous System. Progression-free survival (PFS) and overall survival (OS) rates were calculated, and relevant prognostic factors were analyzed. The median follow-up duration was 19 months. RESULTS: Fifteen cases were gross total resections (GTR), 6 subtotal resections (STR), and 6 partial resections (PR). Neurological status did not worsen after 22 tumor resections. There were statistically significant differences in terms of the extent of resection between the groups with DTI, neuro-navigation and IOM (n=12, GTR or STR=12) and the group without at least one of the three techniques (n=15, GTR or STR=9, p=0.020). The mean PFS was 87.2±38.0 months, and the mean OS 90.7±36.1 months. The 5-year PFS was 37%, and the 5-year OS 47%. The histological grade (p≤0.001) and adjuvant therapy (done vs. not done, p=0.016) were significantly related to longer PFS. The histological grade (p=0.002) and the extent of removal (GTR/STR vs. PR/biopsy, p=0.047) were significantly related to longer OS. CONCLUSION: Maximal surgical resection was achieved with acceptable morbidity in children with thalamic tumors by employing DTI, neuro-navigation and IOM. Maximal tumor resection was a relevant clinical factor affecting OS; therefore, it should be considered the initial therapeutic option for pediatric thalamic tumors.
Subject(s)
Child , Humans , Central Nervous System , Classification , Diagnosis , Diffusion Tensor Imaging , Diffusion , Disease-Free Survival , Follow-Up Studies , Intraoperative Neurophysiological Monitoring , Neuronavigation , Retrospective Studies , Thalamic Diseases , Treatment Outcome , World Health OrganizationABSTRACT
RESUMEN: El tálamo es un núcleo gris de la base que sirve como punto de entrecruzamiento de múltiples vías neuronales. Las manifestaciones clínicas producidas por lesiones talámicas son muy diversas, poco sistematizables y relativamente poco conocidas por el médico clínico. A su vez, dichas lesiones responden a variadas etiologías, dentro de las cuales predomina la vascular. En el presente artículo se describen dos casos clínicos de lesiones talámicas que difieren en su presentación y naturaleza: el primero se manifestó con una sintomatología de la esfera neurológica muy variada y correspondía a una lesión de origen vascular, mientras que el segundo se presentó como el clásico síndrome sensitivo de Déjerine-Roussy correspondiendo a una lesión de origen infeccioso.
ABSTRACT: The thalamus is a basal grey nuclei which serves as a cross-linking point for multiple neural networks. Clinical manifestations of thalamic lesions are varied, non-systematized and relatively not familiar to physicians. Moreover, these lesions are associated with numerous disorders, among which vascular lesions are by far the more frequent. Two cases of thalamic lesions that differ in their presentation and nature are described in this article: the first one showed varied neurologic symptoms and was caused by a vascular disease, while the second one presented itself as the classic Déjerine-Roussy sensitive syndrome and was caused by an infectious disease
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Objective: To evaluate the clinical effect of acupuncture in managing thalamic pain syndrome. Methods: Eighty patients with thalamic pain syndrome were randomly allocated into two groups, with 40 cases in the treatment group receiving combined scalp and body acupuncture treatment and 40 cases in the control group receiving single body acupuncture treatment. The intervention was given for 28 d in total, and the effects were evaluated after 14-day and 28-day treatments. Results: The inner-group comparison of McGill Pain Questionnaire (MPQ) showed significant differences after the treatment d 14 in both of the two groups (P<0.05), and after the treatment d 28, the differences were even more significant (P<0.01). After 28-day treatment, compared with pre-treatment, the Transcranial Doppler (TCD) test detected significant changes in the two groups (P<0.05). The total effective rate was 72.5% in the treatment group versus 47.5% in the control group, and the difference was statistically significant (P<0.05). The 3-month follow-up study found the relapse rate was 0 in the treatment group and 15.8% in the control group, and the difference was significant (P<0.05). Conclusion: Acupuncture is effective in treating thalamic pain syndrome and combined scalp and body acupuncture can achieve even better results.