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.

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.

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.

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.

OBJECTIVEMesial 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.METHODSThe 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.RESULTSFor 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.CONCLUSIONSSAH 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.

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.

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.

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