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Introduction: Ectopic posterior pituitary (EPP) is a rare congenital abnormality, sometimes associated with other midline defects, such as pituitary stalk interruption syndrome (PSIS), in which thin or absent pituitary stalk and anterior pituitary hypoplasia are combined to EPP. Most cases are sporadic, with few reports of familial cases, and many congenital hypopituitarism (CH) cases remain unsolved. Objective: To search for candidate genes associated with this condition, we performed trio-based whole-exome sequencing (WES) on patients with EPP, including two familial cases. Methods: This study included subjects with EPP and PSIS diagnosed by a simple MRI protocol (FAST1.2). We performed two distinct analyses in the trio-based WES. We looked for previously described genes associated with pituitary development. Next, we investigated the whole exome for variants inherited in a pattern consistent with a monogenic etiology. Results: Ten families were evaluated; eight were composed of a child with EPP and healthy parents, one has two affected siblings, and one family has a son and mother with EPP. When analyzing the previously described candidate variants associated with pituitary development, we found variants in GLI2 and FGFR1 in three families. We also found six other variants of interest in three patients: KMT2A, GALR3, RTN4R, SEMA3A, NIPBL, and DSCAML1. Conclusion: The analysis allowed us to find previously reported and not reported GLI2 variants, all inherited from healthy parents, which reinforces the incomplete penetrance pattern of GLI2 variants in the development of EPP and draws attention to possible future functional studies of those variants that have a recurrent expression in CH. We also found novel FGFR1 and SEMA3A variants that suggest an oligogenic mechanism in PSIS and EPP, as seen in patients with hypogonadotropic hypogonadism. We report the first case of a patient with Wiedemann-Steiner syndrome and PSIS, suggesting that the KMT2A gene may be related to pituitary development. Furthermore, the trios' analysis allowed us to find five other variants of interest. Future investigations may clarify the roles of these variants in the etiology of EPP and PSIS.

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Chagas disease is an infection caused by Trypanosoma cruzi, a parasite endemic in Latin America. Acute involvement of the CNS by Chagas has been considered rare, but presumed reactivation of chronic disease in immunosuppressed patients has been the subject of recent reports. Our objective is to describe the clinical and imaging characteristics of four patients with Chagas disease and CNS involvement, and the patients had to have available MRI and a diagnosis confirmed by biopsy. The imaging findings were similar, highlighting the presence of focal cerebral lesions with hypointensity on T2-WI, and these lesions assume a "bunch of acai berries appearance", a fruit involved in the transmission of T. cruzi. The post Gd T1-WI shows punctate enhancement. Knowledge of this pattern may be crucial to recognize this disease in immunocompromised patients from endemic areas.

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Objective: Test if the MRI FAST1.2 protocol can detect extra-pituitary midline structural brain abnormalities in patients with ectopic posterior pituitary (EPP), and highlighting their radiological-laboratory correlations. Subjects and methods: Cross-sectional study of patients with EPP and control group. All individuals were submitted to FAST1.2, which combines the FAST1 protocol developed by our group with 3D T2DRIVE imaging. Results: We evaluated 36 individuals with EPP and 78 as control group. Pituitary stalk (PS) was identified in 7/36 patients in EPP group by FAST1, and in 24/36 patients in FAST1.2 (p < 0.001). FAST1 failed to detect PS in one individual in the control group, while the FAST1.2 defined the PS in all individuals. In EPP group, eleven had interhypothalamic adhesion (IHA), three septo-optic dysplasia, and one cerebellar malformation. We didn't observe higher frequency of panhypopituitarism or developmental delay in patients with IHA. In control group, three had pars intermedia cysts, one hydrocephalus, and one hypothalamic hamartoma. Conclusion: FAST1.2 allows confident recognition of midline structural abnormalities, including the pituitary stalk and IHA, thereby making MRI acquisition faster and with no need for contrast administration. IHA could be associated with defects in neuronal migration, as occur in patients with EPP, with no clinical significance.

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INTRODUCTION: Ectopic posterior pituitary (EPP) is a malformation of the hypothalamic-pituitary region presented as a spectrum from isolated growth hormone deficiency (GHD) to multiple pituitary hormone deficiencies (MPHDs). Our goal was to establish whether the FAST1.2 protocol, which combines the FAST1 protocol with 3D-T2 DRIVE images, could identify the pituitary stalk (PS) and the regional anatomy more accurately. METHODS: A retrospective study of 36 individuals with EPP and hypopituitarism and a control group of 78 individuals with eutopic posterior pituitary was conducted. All individuals were submitted to FAST1.2. The position and size of the pituitary lobes were described, and the presence/absence of the PS was confirmed. RESULTS: FAST1 identified the PS in 19% of individuals with EPP, while FAST1.2 identified the PS in 67% (p < 0.001). In the FAST1.2 protocol, the PS was visible in all control individuals. All EPP patients with isolated GHD had visible PS in FAST1.2, while only 58.6% of MPHD cases had visible PS. The size of the anterior lobe and the anteroposterior length of the posterior pituitary were smaller in the EPP group versus controls (p < 0.001). We noticed a reduced anterior pituitary lobe in both diameters in MPHD patients (p < 0.05). Six patients acquired new pituitary hormone deficiencies not recognized at the time of MRI; in this group, only 1 patient had a PS not visible in FAST1.2. DISCUSSION/CONCLUSION: The FAST1.2 protocol could prevent the misdiagnosis of idiopathic GHD in patients with short stature and could also be important in the progression to MPHD. The PS could be considered a predictor of hypopituitarism, but its use as an isolated indicator for the progression to MPHD is not recommended. Our results reinforce the use of the size of the anterior lobe as a predictor of hypopituitarism and a possible predictor of the degree of pituitary insufficiency. The FAST1.2 protocol could be used as an alternative to gadolinium administration, as a cheaper and faster method, while eliminating the potential risks associated with the administration of contrast media.

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PURPOSE: The aim of this study was to evaluate the integrity of the corticospinal tracts (CST) in patients with SCA3 and age- and gender-matched healthy control subjects using diffusion tensor imaging (DTI). We also looked at the clinical correlates of such diffusivity abnormalities. METHODS: We assessed 2 cohorts from different Brazilian centers: cohort 1 (n = 29) scanned in a 1.5 T magnet and cohort 2 (n = 91) scanned in a 3.0 T magnet. We used Pearson's coefficients to assess the correlation of CST DTI parameters and ataxia severity (expressed by SARA scores). RESULTS: Two different results were obtained. Cohort 1 showed no significant between-group differences in DTI parameters. Cohort 2 showed significant between-group differences in the FA values in the bilateral precentral gyri (p < 0.001), bilateral superior corona radiata (p < 0.001), bilateral posterior limb of the internal capsule (p < 0.001), bilateral cerebral peduncle (p < 0.001), and bilateral basis pontis (p < 0.001). There was moderate correlation between CST diffusivity parameters and SARA scores in cohort 2 (Pearson correlation coefficient: 0.40-0.59). CONCLUSION: DTI particularly at 3 T is able to uncover and quantify CST damage in SCA3. Moreover, CST microstructural damage may contribute with ataxia severity in the disease.

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In addition to findings from conventional magnetic resonance imaging, modern magnetic resonance imaging techniques have provided important information about tumor metabolism, in vivo metabolite formation, water molecule diffusion, microvascular density, and blood-brain barrier permeability, all of which have improved the in vivo diagnostic accuracy of this method in the evaluation of primary central nervous system lymphoma. These nonconventional magnetic resonance techniques are useful in the clinical practice because they enhance conventional magnetic resonance imaging by reinforcing the possibility of a diagnosis and by allowing the early detection of disease recurrence. This report is a review of the most relevant contributions of nonconventional magnetic resonance techniques to the imaging diagnosis of primary central nervous system lymphoma, the differential diagnosis of this disease, and the prognosis of patients. This paper aims to describe a wide range of presentations of primary central nervous system lymphoma, their appearance in imaging, and the differential diagnoses of this disease.

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AIMS: To report false-negative normal growth hormone (GH) peak response in patients with ectopic posterior pituitary gland (EPP) identified with a simplified magnetic resonance imaging (FAST1-MRI). METHODS: We analyzed 75 EPP patients with short stature and reduced growth velocity. Sagittal-T1 imaging (thickness: 2 mm and gap: 0.2 mm) without gadolinium administration was used. A GH peak of ≥5 ng/ml after clonidine or insulin stimulation was considered normal. RESULTS: Normal GH response was observed in 15 of 75 (20%) patients [mean (SDS) peak = 8.2 (4.1) ng/ml]. Age at diagnosis [6.5 (3.0) years vs. 7.8 (4.1) years], gender (10 males/5 females vs. 44 males/16 females), pubertal stage (14 prepubertal/1 pubertal vs. 51 prepubertal/7 pubertal), and target height [-0.4 (0.6) vs. -0.4 (0.9)] were recorded. The perinatal history did not differ between responsive and nonresponsive patients. There was a trend to more frequent multiple hormone deficiency in nonresponsive when compared with responsive patients [3/15 (20%) and 31/60 (51.7%), respectively (p = 0.055)]. Height at diagnosis was lower in nonresponsive patients (p = 0.042). No significant difference in the IGF1 levels (p = 0.598) was observed between the groups. CONCLUSION: Normal GH values after stimulation tests do not exclude EPP-associated GH deficiency. A simplified fast acquisition sagittal-T1 MRI protocol investigation included at the initial diagnostic approach is able to prevent misdiagnosis of GH deficiency in patients with short stature.

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Traumatic brain injury (TBI) is the main cause of death in trauma victims and causes high rates of disability and neurological sequelae. Approximately 38-65% of traumatic brain contusions (TBC) demonstrate hemorrhagic expansion on serial computed tomography (CT) scans. Thus far, however, no single variable can accurately predict the hemorrhage expansion of a TBC. Our purpose was to evaluate contrast extravasation (CE) as a predictor of expansion, mortality, and poor outcome in TBC in a Brazilian cohort. After Institutional Review Board approval, we used multidetector CT angiography (MDCTA) to study 121 consecutive patients (106 men, 87.6%) with ages varying from 10 to 85 years. Informed consent was obtained from all subjects. The clinical and imaging findings were correlated with the findings on the initial MDCTA using either the Fisher exact test or Student t test and a multivariate logistic regression model. Of the persons who presented CE in TBC, 21.8% died (in-hospital mortality), whereas in the absence of this sign, the mortality rate was 7.6% (p = 0.014). In addition, expansion of the hemorrhagic component of the TBC was detected in 61.1% of the CE-positive patients, whereas expansion was only observed in 10% of the CE-negative patients (p < 0.001). Poor outcome was observed in 24.2% of the patients in the CE-negative group, but in the presence of CE, 72.7% evolved with poor outcome (p < 0.001). The CE was a strong independent predictor of expansion, poor outcome, and increased risk of in-hospital mortality in our series of patients with TBC.

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OBJECTIVE: Intracerebral hemorrhage (ICH) occurs in 10% to 15% of all strokes and is accompanied by high rates of mortality, disability, and neurological sequelae. Our aim was to assess the presence and prognostic implications of the active extravasation of contrast within the hemorrhage (spot sign) in a series of patients with secondary ICH. METHODS: We analysed 59 subjects who arrived at a tertiary hospital with secondary ICH and a brain parenchyma hemorrhage greater than 2.0 cm in any axis. RESULTS: Spot sign was observed in 11 subjects, including 8 patients with saccular aneurysm, 1 with arteriovenous malformation, 1 with coagulation disorder and 1 with venous sinus thrombosis. A 37.5% mortality rate was documented in the spot sign-negative group, whereas the presence of this imaging finding was followed by an 81.8% in-hospital mortality rate. CONCLUSIONS: Spot sign was correlated with vascular etiology and was a predictor of mortality in our series of patients.

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Tumors of the pineal region are rare and can be challenging to differentiate by imaging. Papillary tumor of the pineal region (PTPR) was recently recognized as a neoplasm in the World Health Organization (WHO) 2007 classification, arising from specialized ependymocytes in the subcommissural organ, which is located in the pineal region. It is a rare histological type of pineal tumor with only a few cases reported. Here, we describe a case of histologically confirmed PTPR in a 17-year-old man who presented with a headache. A literature review was performed to clarify the clinical, radiological, and pathological features of PTPR. Pineal neoplasms do not have pathognomonic imaging findings; however, we discuss T1 hyperintensity, which is a key for imaging diagnosis according to recent reports. In particular, if the hyperintensity in T1 is not due to fat, calcification, melanin, or hemorrhage in a mass of the posterior commissure or pineal region, the diagnosis of a PTPR may be suggested, as observed in this case.

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The superimposed clinical features of motor neuron disease (MND) and frontotemporal dementia (FTD) comprise a distinct, yet not fully understood, neurological overlap syndrome whose clinicopathological basis has recently been reviewed. Here, we present a review of the clinical, pathological and genetic basis of MND-FTD and the role of MRI in its diagnosis. In doing so, we discuss current techniques that depict the involvement of the selective corticospinal tract (CST) and temporal lobe in MND-FTD.

As características clínicas sobreposta da doença do neurônio motor (DNM) e demência frontotemporal (DFT) compreendem um distinto ainda não totalmente compreendido, base neurológica síndrome de sobreposição clínico-patológico foi recentemente revisto. Aqui, apresentamos uma revisão das bases clínicas, patológicas e genética de DNM-DFT e o papel da ressonância magnética no diagnóstico STI. Ao fazê-lo, discutimos as técnicas atuais que retratam o envolvimento do trato corticoespinhal seletiva (TCS) e lobo temporal em DNM-DFT.

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We report a case of a typical MRI from a patient with bulbar-onset sporadic amyotrophic lateral sclerosis associated with Chiari type 1 malformation. Our report reinforces the conventional neuroimaging appearance associated with each condition and the associated abnormalities on a clinical and advanced imaging techniques basis. The MRI signal intensity was useful for detecting upper motor neuron degeneration based on corticospinal tract signal intensity, while diffusion tensor imaging parameters were limited to this purpose. Our description reinforces the relevance of the T1 magnetisation transfer sequence to demonstrate corticospinal tract degeneration and corroborate an amyotrophic lateral sclerosis diagnosis in an individual participant, when there is a potential concurrent 'amyotrophic lateral sclerosis mimic syndrome'. To our knowledge, this is the first description of the non-conventional MR techniques applicability to distinguish the impact of amyotrophic lateral sclerosis from Chiari 1 malformation.

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UNLABELLED: Neuro-Behçet's disease (NBD) presents cognitive and behavioral symptoms possibly explained by secondary dysfunction of frontal and temporal cortices due to subcortical damage, as NBD commonly involves the brainstem and basal ganglia. Nonetheless, there are reports of cognitive impairment in patients without neurological manifestations. OBJECTIVE: To evaluate cognitive function in Behçet's disease (BD) patients with and without neurological manifestations and to analyze clinical variables associated with cognitive deficits. METHODS: This is a cross-sectional study that compared healthy controls, BD patients without neurological manifestations and NBD patients. Each group comprised 24 participants. All participants underwent neuropsychological evaluation, Hamilton Anxiety Rating Scale (HAM-A), Beck Depression Inventory (BDI) application and brain MRI. Cumulative prednisone dose, years of education, and presence of white-matter lesions in brain MRI were recorded. RESULTS: 41.6% of BD and 41.6% of NBD patients showed impaired language and executive function, whereas visual memory was impaired only in NBD patients. Multiple logistic regression revealed that anxiety (OR 1.09 95% CI 1.03-1.16, p=0.003) and lower educational level (OR 0.62 95% CI 0.48-0.80, p<0.0001) were independently associated with cognitive impairment. CONCLUSION: Cognitive impairment occurs frequently in patients with BD independently of neurological manifestation. Low educational level and anxiety are risk factors for cognitive impairment in BD.

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OBJECTIVES: Sleep disorders, especially restless legs syndrome (RLS) and rapid eye movement sleep behavior disorder (RBD), are common in spinocerebellar ataxia type 3 or Machado-Joseph disease (MJD), and a possible underlying dopaminergic dysfunction is implicated. This study assessed the relationship between sleep disorders in MJD and dopamine transporter (DAT) densities. PATIENTS AND METHODS: Twenty-two patients with MJD and twenty healthy subjects were enrolled in this study. MJD patients underwent clinical sleep evaluation and polysomnography. SPECT with [(99m)Tc]-TRODAT-1, was performed in all subjects. RESULTS: DAT densities were significantly reduced in MJD group when compared to controls. No significant correlation was found between DAT densities and RLS or RBD in MJD. CONCLUSION: Our study failed to demonstrate a clear correlation between sleep disorders and DAT densities in MJD patients, hence suggesting that extrastriatal and non-presynaptic dopamine pathways could be implicated in MJD-related sleep disorders.

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Cognitive and olfactory impairments have been demonstrated in patients with Machado-Joseph disease (MJD), and a possible relationship with dopaminergic dysfunction is implicated. However, there is still controversy regarding the pattern of striatal dopaminergic dysfunction in patients with MJD. In this study, we investigated whether these patients had different dopamine transporter (DAT) densities as compared to healthy subjects, and correlated these data with cognitive performance and sense of smell. Twenty-two MJD patients and 20 control subjects were enrolled. The neuropsychological assessment comprised the spatial span, symbol search, picture completion, stroop color word test, trail making test and phonemic verbal fluency test. The 16-item Sniffin' Sticks was used to evaluate odor identification. DAT imaging was performed using the SPECT radioligand [(99m)Tc]-TRODAT-1, alongside with Magnetic Resonance imaging. Patients with MJD showed significantly lower DAT density in the caudate (1.34 ± 0.27 versus 2.02 ± 0.50, p < 0.001), posterior putamen (0.81 ± 0.32 versus 1.32 ± 0.34, p < 0.001) and anterior putamen (1.10 ± 0.31 versus 1.85 ± 0.45, p < 0.001) compared with healthy controls. The putamen/caudate ratio was also significantly lower in patients compared with controls (0.73 ± 0.038 versus 0.85 ± 0.032, p = 0.027). Even though we had only two patients with parkinsonism, we detected striatal dopaminergic deficits in those patients. No significant correlations were detected between DAT density and cognitive performance or Sniffin' Sticks scores. The data suggests that striatal dopamine deficit is not involved in cognitive or sense of smell deficits. This finding raises the possibility of extra-striatal dopamine and other neurotransmitter system involvement or of cerebellum neurodegeneration exerting a direct influence on cognitive and sensorial information processing in MJD.

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