Background: Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytic proliferative disorder classically as a massive cervical lymphadenopathy. However, over the years, extranodal locations were confirmed with the central nervous system involvement in less than 5% of cases, which is marked as a significant differential diagnosis of meningiomas, with which they are widely confused due to the similarity of their radiological images. Case Description: We report a 37-year-old man and 45-year-old man who were diagnosed with intracranial RDD but whose radiological images mimic meningiomas, requiring anatomopathological and tumor’s immunohistochemistry for definitive diagnosis. Moreover, a review of 184 publications with 285 cases of intracranial involvement of this disease was also performed, comparing these findings with those brought in the previous studies. Conclusion: Intracranial Rosai-Dorfman tumors should always be remembered as differential diagnosis of meningiomas since they are similar radiologically and macroscopically. Once remembered and diagnosed, the lesion must be treated following the same pattern of resection done in meningiomas and, treatment’s differences will not occur in the surgical excision technique, but in complementary chemotherapy implementation, radiotherapy, and even with radiosurgery aid, depending on the case. Thus, it is possible to obtain better results than with just the isolated surgical procedure.
Background: The Complex Regional Pain Syndrome (CRPS), known as reflex sympathetic dystrophy, Sudeck atrophy, causalgy or posttraumatic pain has been described as an important cause of chronic morbidity, which acknowledge of clinical limits, pathophysiology and implications of pathogenesis is still little elucidated. Therefore a great dissatisfaction for patients and health professionals has been described regarding to the currently available therapeutic methods. Objectives: The goal of this paper is to discuss the current perspectives of physiopathology, diagnosis and treatment in CRPS. Methods: A review of the literature was carried out using the MEDLINE, LILACS, and SciELO databases, with preference to articles in English, Portuguese and Spanish. Results: The diagnosis is predominantly based in clinical evidences of signs and symptoms. Although it has been described in the literature in many studies and guidelines about the treatment of CRPS, there is no consensus of procedure indications. Between the surgical methods, the use of spinal cord stimulation and others neuromodulators approaches has been described associated to significant rates of success in the management of CRPS. Conclusion: According to the literature and authors experience, the successful treatment of CRPS is based in early diagnosis associated to experienced interdisciplinary team aiming the functional restoration and psychological aspect monitoring.
Introduction: Myoclonus-dystonia syndrome (MDS) is an autosomal-dominant movement disorder characterized by childhood-onset myoclonic jerks and dystonic symptoms. The estimated prevalence for MDS is 1/500.000 and usually it is associated with mutations in the epsilon-sarcoglycan (SGCE) gene. One rarer genetic cause for MDS is the GNAO1 mutation. Cytogenetically located on 16q13, this gene encodes a specific subclass of G protein, a signal-transducing molecule important to the central and peripheral nervous system. This heterotrimeric guanine nucleotide-binding protein is composed of alpha, beta, and gamma subunits. The GNAO1 gene usually encodes for G-alpha-o, one of the four subclasses of the G-alpha subunit. GNAO1 variants can cause a wide clinical spectrum and the two major characteristic features caused by them are early-onset epileptic encephalopathies (EOEEs) and involuntary movements without seizures. Genetic testing for GNAO1 should be considered in patients with EOEE or involuntary movement with severe developmental delay. Objective: Our report is about a 2 years old female patient with MDS due to GNAO1 mutation, a rare genetic condition. The aim of the present case report is to highlight the relevance of genetic testing for GNAO1 in cases of MDS. Case Report: A 2-years-old female patient diagnosed with the Myoclonus-dystonia syndrome due to GNAO1 mutation presented multifocal dystonia and severe myoclonic jerks. GNAO1 is located on chromosome 16 (not X-linked) and the mutation was found by whole exome sequencing. The alteration in the position chr16.56.385.308 resulted from a G to A substitution. The glutamine at codon 246 was replaced with lysine. In addition, the electroencephalogram detected myoclonia with no loss of consciousness. In spite of the absence of epileptic encephalopathy, this neurodevelopmental disorder interferes with her daily tasks, particularly breastfeeding. Low doses of rivotril had been attempted for small periods of time. It is expected that, at the age of six years, she undergoes a neurosurgery to insert DBS (deep brain stimulation) in the internal globus pallidus (GPi). DBS is an effective treatment for even the severe MDS and surgery at an early stage may predict a better outcome.
Objetivo: Las transecciones subpiales múltiples (MST) representan una opción técnica de tratamiento quirúrgico para pacientes con focos epileptogénicos ubicados en áreas corticales elocuentes. Podrían realizarse además de otras técnicas quirúrgicas o solo. Presentamos los resultados clínicos de 20 pacientes que recibieron una cirugía MST única con un seguimiento mínimo de 5 años. Métodos: Los autores estudiaron a todos los pacientes que se sometieron a una intervención quirúrgica entre 2007 y 2019 para la epilepsia refractaria. Entre ellos, 20 tenían MST radiante (rMST) como el único tratamiento quirúrgico con un seguimiento de al menos 5 años. Resultados: A los 5 años de seguimiento, el 80% de nuestros pacientes eran Engel clase I, el 20% eran Engel clase II, ninguno era Engel clase III y ninguno era Engel clase IV. En el último seguimiento, 12 pacientes (60%) no sufrieron convulsiones, quatro (20%) tuvieron una disminución de más del 75% y quatro (20%) no mejoraron después del procedimiento. Ninguno de los pacientes con Engel I tuvo recurrencia de ataques, y los que pertenecían a una clase intermedia mejoraron durante el seguimiento, en algunos casos en asociación con una modificación farmacológica antiepiléptica. Cuatro (20%) tuvieron una complicación transitoria menor, y cuatro pacientes (20%) tuvieron una complicación permanente menor. Conclusiones: La MST realizada sola da un resultado favorable en el 80% de los pacientes (16) con un seguimiento mínimo de 5 años con pocas complicaciones menores. Este procedimiento parece ser efectivo incluso con un seguimiento prolongado en la epilepsia refractaria con los focos epileptogénicos ubicados en áreas elocuentes.
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