Temporal lobe structural evaluation after transsylvian selective amygdalohippocampectomy.

OBJECTIVE: Mesial temporal lobe epilepsy (MTLE) is the most common type of focal epilepsy in adolescents and adults, and in 65% of cases, it is related to hippocampal sclerosis (HS). Selective surgical approaches to the treatment of MTLE have as their main goal resection of the amygdala and hippocampus with minimal damage to the neocortex, temporal stem, and optic radiations (ORs). The object of this study was to evaluate late postoperative imaging findings on the temporal lobe from a structural point of view. METHODS: The authors conducted a retrospective evaluation of all patients with refractory MTLE who had undergone transsylvian selective amygdalohippocampectomy (SAH) in the period from 2002 to 2015. A surgical group was compared to a control group (i.e., adults with refractory MTLE with an indication for surgical treatment of epilepsy but who did not undergo the surgical procedure). The inferior frontooccipital fasciculus (IFOF), uncinate fasciculus (UF), and ORs were evaluated on diffusion tensor imaging analysis. The temporal pole neocortex was evaluated using T2 relaxometry. RESULTS: For the IFOF and UF, there was a decrease in anisotropy, voxels, and fibers in the surgical group compared with those in the control group (p < 0.001). An increase in relaxometry time in the surgical group compared to that in the control group (p < 0.001) was documented, suggesting gliosis and neuronal loss in the temporal pole. CONCLUSIONS: SAH techniques do not seem to totally preserve the temporal stem or even spare the neocortex of the temporal pole. Therefore, although the transsylvian approaches have been considered to be anatomically selective, there is evidence that the temporal pole neocortex suffers structural damage and potentially functional damage with these approaches.

Luteinizing hormone beta mutation and hypogonadism in men and women.

Selective luteinizing hormone deficiency due to mutations in the luteinizing hormone beta-subunit gene (LHB) is a rare cause of hypogonadism. We describe the clinical features of a consanguineous family in which three siblings, two men and one woman, had hypogonadism related to isolated luteinizing hormone deficiency. These subjects have a newly discovered homozygous mutation of a 5' splice site in LHB: IVS2+1G-->C. This mutation disrupts the splicing of messenger RNA (mRNA), generating a gross abnormality in the processing of the luteinizing hormone beta-subunit mRNA, which abrogates the secretion of luteinizing hormone. We also determined that the female phenotype of this LHB mutation is characterized by normal pubertal development, secondary amenorrhea, and infertility.

Neurovascular reconstruction with flow diverter stents for the treatment of 87 intracranial aneurysms: Clinical results.

BACKGROUND: Flow diverter stents represent a new endovascular tool to treat complex aneurysms, such as giant, large, wide-necked and fusiform. The highly dense mash of these stents reduces inflow and outflow inside the aneurysm, resulting in intra aneurysmal thrombosis and stent endothelialization. OBJECTIVES: To present the results of treatment of intracranial aneurysms with flow diverter stents in a single center. METHODS: Retrospective review of 77 patients with 87 aneurysms treated using two different types of flow diverter stent, the Pipeline Embolization Device and SILK stent, between October 2010 and September 2013 in an interventional neuroradiology center. RESULTS: Flow diverter stent placement was successful in 98% of the lesions and resulted in an immediate major stasis within most of the treated aneurysms. The overall aneurysm occlusion rate at six months and 18 months was 80% and 84% respectively. Symptomatic complications occurred in 11 patients (14.3%) with morbidity in eight (10.4%) and mortality in three patients (3.9%). CONCLUSION: Flow diversion is a promising technique for treatment of challenging intracranial aneurysms with acceptable morbidity. A high rate of complete occlusion for small large necked aneurysms, a low morbidity and mortality rate and no recanalization encourage their use in these aneurysms. Further studies accessing long-term aneurysm occlusion and recanalization are required.

Aneurysmatic bone cyst of the craniocervical region: Surgical technique.

Aneurysmal bone cysts (ABCs) are nonneoplastic bone lesions that may originate of any site of skeleton. The spine can be affect up to 30% of the cases, leading to pain, neurological deficits, and pathological fractures in symptomatic patients. The incidence of craniocervical (occipito-C1-2) occurrence is not known. We describe the surgical technique and clinical results of two patients with craniocervical ABCs that underwent primary surgical resection: An 11-year-old girl with a lesion in the posterior aspect of the atlas, and a 28-year-old man with an important hydrocephalus and a posterior expansible lesion on the left side of his posterior fossa. Total resection was achieved on both lesions, with no surgical morbidity. Even though ABCs are nonneoplastic lesions, subtotal resection is associated with early recurrence. The knowledge of the anatomy of the region in order to achieve the occlusion of arterial feeders prior to surgical resection itself is the key point of the surgical strategy.

Basilar invagination: Surgical results.

INTRODUCTION: Basilar invagination (BI) is a congenital craniocervical junction (CCJ) anomaly represented by a prolapsed spine into the skull-base that can result in severe neurological impairment. MATERIALS AND METHODS: In this paper, we retrospective evaluate the surgical treatment of 26 patients surgically treated for symptomatic BI. BI was classified according to instability and neural abnormalities findings. Clinical outcome was evaluated using the Nürick grade system. RESULTS: A total of 26 patients were included in this paper. Their age ranged from 15 to 67 years old (mean 38). Of which, 10 patients were male (38%) and 16 (62%) were female. All patients had some degree of tonsillar herniation, with 25 patients treated with foramen magnum decompression. Nine patients required a craniocervical fixation. Six patients had undergone prior surgery and required a new surgical procedure for progression of neurological symptoms associated with new compression or instability. Most of patients with neurological symptoms secondary to brainstem compression had some improvement during the follow-up. There was mortality in this series, 1 month after surgery, associated with a late removal of the tracheal cannula. CONCLUSIONS: Management of BI requires can provide improvements in neurological outcomes, but requires analysis of the neural and bony anatomy of the CCJ, as well as occult instability. The complexity and heterogeneous presentation requires attention to occult instability on examination and attention to airway problems secondary to concomitant facial malformations.

Stereotactic radiosurgery for spinal metastases: a literature review.

OBJECTIVE: The spine is the most common location for bone metastases. Since cure is not possible, local control and relief of symptoms is the basis for treatment, which is grounded on the use of conventional radiotherapy. Recently, spinal radiosurgery has been proposed for the local control of spinal metastases, whether as primary or salvage treatment. Consequently, we carried out a literature review in order to analyze the indications, efficacy, and safety of radiosurgery in the treatment of spinal metastases. METHODS: We have reviewed the literature using the PubMed gateway with data from the MEDLINE library on studies related to the use of radiosurgery in treatment of bone metastases in spine. The studies were reviewed by all the authors and classified as to level of evidence, using the criterion defined by Wright. RESULTS: The indications found for radiosurgery were primary control of epidural metastases (evidence level II), myeloma (level III), and metastases known to be poor responders to conventional radiotherapy--melanoma and renal cell carcinoma (level III). Spinal radiosurgery was also proposed for salvage treatment after conventional radiotherapy (level II). There is also some evidence as to the safety and efficacy of radiosurgery in cases of extramedullar and intramedullar intradural metastatic tumors (level III) and after spinal decompression and stabilization surgery. CONCLUSION: Radiosurgery can be used in primary or salvage treatment of spinal metastases, improving local disease control and patient symptoms. It should also be considered as initial treatment for radioresistant tumors, such as melanoma and renal cell carcinoma.

Is there a right time for surgery in paraplegic patients secondary to non traumatic spinal cord compression?

Paraplegia is a well-defined state of complete motor deficit in lower limbs, regardless of sensory involvement. The cause of paraplegia usually guides treatment, however, some controversies remain about the time and benefits for spinal cord decompression in nontraumatic paraplegic patients, especially after 48 hours of the onset of paraplegia. The objective of this study was to evaluate the benefits of spinal cord decompression in such patients. We describe three patients with paraplegia secondary to non-traumatic spinal cord compression without sensory deficits, and who were surgically treated after more than 48 hours of the onset of symptoms. All patients, even those with paraplegia during more than 48 hours, had benefits from spinal cord decompression like recovery of gait ability. The duration of paraplegia, which influences prognosis, is not a contra-indication for surgery. The preservation of sensitivity in this group of patients should be considered as a positive prognostic factor when surgery is taken into account.

Surgical Anatomy and approaches to the anterior thoracolumbar spine region / Anatomia cirúrgica e abordagens para a coluna tóraco-lombar

A anatomia cirúrgica da região tóraco-lombar da coluna vertebral (T11-L2) é revisada. As características principais dos grupos musculares, vascularização e estruturas neurais são descritas em detalhes. Apresentamos também uma discussão técnica dos acessos anterior a essa região, como o transtorácico retroperitoneal e o retropleural lateral. Concluímos que o conhecimento anatômico é fundamental para se obter resultados mais seguros e eficazes em cirurgias desta região.

Tuberculose sacral em idosos: Causa incomum de dor lombar refrataria / Sacral tuberculosis in the elderly: An unusual cause of refractory low back pain

A coluna vertebral representa cerca de 50% dos casos de acometimento ósseo pela tuberculose. Entretanto, a tuberculose nacoluna sacral não é uma localização comum, mesmo em países em desenvolvimento. Objetivo: Descrever a importância dediagnóstico de tuberculose vertebral na região sacral. Métodos: Relato de caso de uma paciente de 67 anos apresentando dorlombar baixa por cerca de um ano. Resultados: Avaliação radiológica inicial foi compatível com uma lesão lítica na primeiravertebral sacral (S1), sendo realizada a biopsia da lesão, porém com resultado inconclusivo. Uma nova biopsia foi realizada eMycobacterium tuberculosis bacilli foi visualizado. A paciente foi tratada com agente anti-tuberculose apresentando resoluçãocompleta da dor. Conclusão: Apesar de raro, a tuberculose sacral deve ser considerada como diagnóstico diferencial em lesõeslíticas na região sacral...

Vertebral Tuberculosis represents about 50% of all osseous compromised in tuberculosis. However, sacral tuberculosis is rareeven in developing countries. Objective: Describe the importance of the diagnosis of vertebral tuberculosis in the sacral region.Methods: Case report of a 67 year-old woman who presented with low back pain for one year. Results: Initial radiologicalevaluation was compatible with a lytic lesion at the first sacral (S1) vertebrae on the computed tomography scan. Open surgicalbiopsy was performed, but it was inconclusive. A second procedure was performed and Mycobacterium tuberculosis bacilli werevisualized on microbiological purulent fluid analysis. A complete improvement of pain was obtained after introduction of antituberculousdrugs. Conclusion: Although rare, sacral tuberculosis should be considered as a differential diagnosis of low backpain in endemic regions...

Radiocirurgia estereotáxica para metástases de coluna vertebral: revisão de literatura / Stereotactic radiosurgery for spinal metastases: a literature review

OBJECTIVE: The spine is the most common location for bone metastases. Since cure is not possible, local control and relief of symptoms is the basis for treatment, which is grounded on the use of conventional radiotherapy. Recently, spinal radiosurgery has been proposed for the local control of spinal metastases, whether as primary or salvage treatment. Consequently, we carried out a literature review in order to analyze the indications, efficacy, and safety of radiosurgery in the treatment of spinal metastases. METHODS: We havereviewed the literature using the PubMed gateway with data from the MEDLINE library on studies related to the use of radiosurgery in treatment of bone metastases in spine. The studies were reviewed by all the authors and classified as to level of evidence, using the criterion defined by Wright. RESULTS: The indications found for radiosurgery were primary control of epidural metastases (evidence level II), myeloma (level III), and metastases known to be poor responders to conventional radiotherapy - melanoma and renal cell carcinoma (level III). Spinal radiosurgery was also proposed for salvage treatment after conventional radiotherapy (level II). There is also some evidence as to the safety and efficacy of radiosurgery in cases of extramedullar and intramedullar intradural metastatic tumors (level III) and after spinal decompression and stabilization surgery. CONCLUSION: Radiosurgery can be used in primary or salvage treatment of spinal metastases, improving local disease control and patient symptoms. It should also be considered as initial treatment for radioresistant tumors, such as melanoma and renal cell carcinoma.

OBJETIVO: A coluna vertebral é o local mais comum de metástases ósseas. Uma vez que a cura não pode ser obtida, o controle local e o alívio dos sintomas é a base do tratamento, sendo este fundamentado no uso de radioterapia convencional. Recentemente, a radiocirurgia espinhal foi proposta para o controle local das metástases na coluna, seja como tratamento primário ou de resgate. Dessa forma, realizamos uma revisão da literatura para analisar as indicações, a eficácia e a segurança da radiocirurgia no tratamento das metástases da coluna. MÉTODOS: A revisão de literatura foi realizada no portal PubMed - dados da biblioteca MEDLINE, sobre os estudos relacionados ao uso da radiocirurgia no tratamento para metástases ósseas na coluna vertebral. Os estudos foram revisados por todos os autores e classificados quanto ao nível de evidência, utilizando critério definido por Wright. RESULTADOS: As indicações encontradas para radiocirurgia foram: controle primário de metástases epidurais (nível II de evidência), mieloma (nível III) e metástases sabidamente pouco responsivas à radioterapia convencional - melanoma e carcinoma de células renais - (nível III). A radiocirurgia espinhal também foi proposta para o tratamento de resgate após falha da radioterapia convencional (nível II). Existe ainda alguma evidência quanto à segurança e a eficácia da radiocirurgia em casos de tumores metastáticos intradurais extramedulares e intramedulares (nível III), e após cirurgias de descompressão e estabilização da coluna. CONCLUSÃO: A radiocirurgia, portanto, pode ser usada no tratamento primário ou de resgate de metástases espinhais, melhorando o controle local da doença e dos sintomas dos pacientes. Deve ainda ser considerada como tratamento inicial para tumores radiorresistentes, como melanoma e carcinoma de células renais.

Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone beta subunit mutation.

OBJECTIVE: To quantify gonadal steroid responses to different gonadotropin regimens. DESIGN: Transversal clinical study. SETTING: Academic medical center. PATIENT(S): A 41-year-old woman and her 37-year-old brother with isolated FSH deficiency due to a homozygous Tyr76X FSH beta subunit gene (FSHB) mutation. INTERVENTION(S): Initially, serial LH samples were drawn overnight. After 2-day dexamethasone suppression, steroids were measured at baseline and after hCG, recombinant FSH, or hCG + recombinant FSH administration. MAIN OUTCOME MEASURE(S): Pulse number, peak amplitude, and mean overnight LH levels, as well as basal and stimulated FSH, LH, T, E(2), DHEAS, 17alpha-hydroxyprogesterone (17-OHP), and androstenedione (A). RESULT(S): The mean +/-SD overnight LH was 49.2 +/- 5.7 mIU/mL and 9.1 +/- 2.9 mIU/mL; there were 8 pulses/8 hours and 9 pulses/9 hours, with mean amplitudes of 53.4 +/- 6.5 mIU/mL and 11.7 +/- 1.9 mIU/mL, for the woman and man, respectively. There was no steroid response to recombinant FSH, hCG, or hCG + recombinant FSH in the woman. In the man, T increased after hCG, recombinant FSH, and hCG + recombinant FSH, whereas E(2), A, and 17-OHP increased only after hCG + recombinant FSH. CONCLUSION(S): This report constitutes the first detailed endocrine study of a man with isolated FSH deficiency due to an FSHB mutation and suggests that FSH may have a positive regulatory effect on healthy LH-stimulated Leydig cells, probably mediated by its primary action on Sertoli cells, in a paracrine mechanism.

Is there a right time for surgery in paraplegic patients secondary to non traumatic spinal cord compression? / Há um período exato para cirurgia em pacientes com paraplegia secundária à compressão medular não traumática?

Paraplegia is a well-defined state of complete motor deficit in lower limbs, regardless of sensory involvement. The cause of paraplegia usually guides treatment, however, some controversies remain about the time and benefits for spinal cord decompression in nontraumatic paraplegic patients, especially after 48 hours of the onset of paraplegia. The objective of this study was to evaluate the benefits of spinal cord decompression in such patients. We describe three patients with paraplegia secondary to non-traumatic spinal cord compression without sensory deficits, and who were surgically treated after more than 48 hours of the onset of symptoms. All patients, even those with paraplegia during more than 48 hours, had benefits from spinal cord decompression like recovery of gait ability. The duration of paraplegia, which influences prognosis, is not a contra-indication for surgery. The preservation of sensitivity in this group of patients should be considered as a positive prognostic factor when surgery is taken into account.

A paraplegia é uma condição de déficit motor completo dos membros inferiores, independente do envolvimento de sensibilidade. A causa da paraplegia normalmente guia o tratamento, porém existem controversas sobre o momento e o benefício da descompressão medular em pacientes paraplégicos, principalmente após 48 horas do início dessa condição. O objetivo deste trabalho foi avaliar o beneficio da descompressão medular nesses pacientes. Foram descritos três pacientes com paraplegia secundária à compressão medular não traumática, sem déficits sensoriais e que foram submetidos à cirurgia após 48 horas do início dessa condição. Todos os pacientes, inclusive aqueles com mais de 48 horas do início dos sintomas, apresentaram melhora neurológica com a descompressão medular, como a recuperação da habilidade de marcha. A duração da paraplegia, que influencia no prognóstico, não é uma contraindicação absoluta para o procedimento cirúrgico. A preservação de sensibilidade desse grupo de pacientes deve ser considerada como fator prognóstico positivo quando a cirurgia for levada em conta.

Diffuse meningeal tuberculosis: case report / Tuberculose meníngea difusa: relato de caso

A infecção do sistema nervoso central pela Mycobacterium tuberculosis (MT), apesar de ser incomum em pacientes imunocompetentes, traz um desafio diagnóstico na medicina moderna. O envolvimento subdural da MT pode simular doenças neoplásicas ou inflamatórias, trazendo influência direta na terapêutica. Os autores apresentam nesse trabalho uma paciente de meia idade com envolvimento atípico do espaço subdural pela MT. Uma biópsia aberta foi realizada e o tratamento padrão para MT do sistema nervoso central foram realizados, com significativa melhora da função motora. Nos países em que a MT tem grande prevalência e incidência, a existência de lesão intracraniana atípica deve sempre ser suspeitada como envolvimento do sistema nervoso central pela MT.

central nervous system infection by Mycobacteriumtuberculosis (MT), uncommonly seen in immunocompetentpatients, brings a diagnose challenge in the modern medicine.Subdural space involvement of MT may simulate neoplasticor inflammatory diseases, bringing a direct influence in thetherapeutics. We present a case report of a tetraparetic middleagewoman with an atypical subdural space involvementby MT. Biopsy was done and the standard treatment forcentral nervous system MT was instituted, with a significantimprovement in the motor function. In countries where MTinfection has high prevalence and incidence, an atypicalintracranial mass should be always suspected for centralnervous system involvement by MT.

Variable pathological and clinical features of a large Brazilian family harboring a mutation in the aryl hydrocarbon receptor-interacting protein gene.

BACKGROUND: Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations occur in 15% of familial isolated pituitary adenoma (FIPA) cases. To date, studies have focused on the identification of such mutations in large international cohorts. Detailed genetic and clinical studies within AIP mutation-positive families have been limited. AIM: To undertake a comprehensive study of a large Brazilian FIPA kindred with an E174 frameshift (E174fs) AIP mutation to assess clinical, hormonal, and radiological features in mutation carriers. METHODS: The kindred included 122 subjects across six generations; all underwent clinical examination. Genetic studies were performed to identify E174fs mutation carriers. E174fs-positive subjects underwent magnetic resonance imaging (MRI) and hormonal assessments. RESULTS: Of the ten germline AIP mutation carriers, three had pituitary tumors, while seven were asymptomatic carriers. Three patients with pituitary tumors showed variability in terms of tumor phenotype (two with acromegaly, one with prolactinoma, or mixed prolactin/GH-secreting tumor) and age at diagnosis; both patients with acromegaly had poor responses to octreotide. Tumor AIP immunohistochemistry from the operated patient showed decreased expression when compared with normal tissue. Two adult subjects with normal MRI had elevated IGF-I in the absence of other causes. A 2-year-old child with the E174fs mutation and a normal MRI had premature thelarche, ovarian development, and advanced bone age in the absence of other underlying causes. CONCLUSIONS: The penetrance of pituitary tumors in AIP mutation-positive adult subjects was 33.3%, while clinical/hormonal features were variable. The features noted in AIP-mutation carriers in this kindred suggest that clinical characteristics of such carriers may extend beyond pituitary tumors.

Hemiplegia aguda secundária a lesão axonal difusa após trauma crânio-encefálico (AU) / Acute hemiplegia secondary to diffuse axonal injury after

A lesão axonal difusa (LAD) é uma das principais formasde lesão traumática encefálica, caracterizada pelo envolvimentodas fibras axonais das fibras brancas cerebrais1,2,5. Omecanismo dessa lesão é a somadas forças de aceleração,desaceleração e rotação, principalmente das estruturas próximasda linha média, incluindo a região superior dorsolateralda ponte e mesencéfalo, terço posterior do corpo caloso,substância branca parassagital e ocasionalmente a cápsulainterna4,5,9. Pela importância das estruturas envolvidas e aalta incidência, perto de 50% doas casos de trauma crânioencefálicograve, a LAD é a principal causa e déficit cognitivoassim como estado vegetativo persistente associado aotrauma2,5,8,9. Entretanto a presença de déficit motor associadoa LAD é pouco comum sendo dependente da localizaçãoanatômica6. O objetivo desse trabalho e descrever uma casode hemiplegia aguda relacionada a LAD.