Assessment of different regions of interest-based methods for [99mTc]Tc DAT-SPECT quantification using an anthropomorphic striatal phantom.

BACKGROUND AND AIMS: Molecular imaging of the dopamine transporters (DAT) provides valuable information about neurodegenerative diseases, such as Parkinson's. This study assessed the accuracy and precision of DAT-SPECT quantification methods. METHODS: Twenty-three DAT-SPECT images of a striatal phantom were acquired. The specific (caudate and putamen) and the non-specific (background activity) chambers were filled with [99mTc]Tc. Different specific-to-non-specific activity ratios (10, 9, 8, 7, 6, 5, 4, 3 and 2 to 1) and the specific binding ratio (SBR) were calculated. Five methods using ROIs were assessed: (a) Manual ROIs on SPECT images; (b) TwoBox and (c) ThreeBox methods and Volume of Interest (VOI) using structural images; (d) MRI and (e) CT. Accuracy was evaluated by the concordance correlation coefficient (CCC) and precision by Pearson's coefficient and linear regression. RESULTS: The SBR quantified in the specific and striatal chambers resulted in a CCC increase with a decrease in the nominal values. For lower SBR, MRI and CT showed higher CCCs when caudate ([Formula: see text] = 0.89 e [Formula: see text] = 0.84) and putamen ([Formula: see text] = 0.86 e [Formula: see text] = 0.82) were evaluated. For striatal assessments, the TwoBox method was the most accurate ([Formula: see text] = 0.95). High Pearson's coefficients were found in the correlations between all methods. CONCLUSIONS: All five methods showed high precision even when applied to images with different activities. MRI and CT were the most accurate for assessing the caudate or putamen. To assess the striatal chamber and in the absence of structural information, the TwoBox method is advisable.

Reference Values for Dopamine Transporter Imaging With 99m Tc-TRODAT-1 in Healthy Subjects and Parkinson's Disease Patients.

PURPOSE: The aim of this study was to evaluate different quantitative indexes of striatum dopamine transporter density in healthy subjects and patients with PD. PATIENTS AND METHODS: Sixty-seven patients, 23 healthy (8 male; 59 ± 11 years old) and 44 age-matched patients (29 male; 59 ± 7 years old), with various degrees of severity of idiopathic PD (duration of symptoms, 10 ± 6 years; Hoehn and Yahr Scale, 2.16 ± 0.65; UPDRS-3, 29.74 ± 17.79). All patients performed 99m Tc-TRODAT-1 SPECT. Binding potential indexes (BPIs) of striatum and subregions, asymmetry index (AI), and putamen/caudate ratio (P/C) were calculated. RESULTS: Binding potential index was lower in the PD than in healthy subjects. A BPI cutoff for striatum and putamen ranging from 0.73 to 0.78 showed 95% to 100% sensitivity and 84% to 88% specificity. For the caudate nucleus, a BPI threshold of 0.8 to 0.88 revealed 100% sensitivity and 77% to 84% specificity. The BPI's respective areas under the curve ranged from 0.92 to 0.98. For AI and P/C, the area under the curve was less than 0.70. Binding potential index intraclass correlation coefficient was close to 1.0 in the intraobserver evaluation and 0.76 to 0.87 in the interobserver assessment. Intraclass correlation coefficient for AI and P/C was inferior to 0.75 in the intraobserver and interobserver evaluations. CONCLUSIONS: Different semiquantitative indices differentiated PD and healthy subjects and may help the differential diagnosis of other entities involving the dopaminergic system. Asymmetry index and P/C performances were lower than BPI, including their intraobserver and interobserver reliability, and therefore should be used with caution.

Temporal and spatial changes in cerebral blood flow in neuropsychiatric systemic lupus erythematosus: a subtraction brain spect study.

This study was addressed to evaluate the temporal and spatial changes in regional cerebral blood flow (rCBF) of patients with neuropsychiatric systemic lupus erythematosus (NPSLE). Our objective was to correlate the subtracted SPECT coregistered to MRI features (SISCOM) with demographic, clinical and laboratory findings to shed light upon the pathophysiological evolution of the NPSLE. Twenty-six NPSLE patients with MRI and pre- and post-treatment brain SPECT with [99mTc]Tc-ECD. SISCOM features were categorized as improvement, worsening, activation and/or deactivation of rCBF findings. Patients mean age of 43.19 years and 65.38% white were evaluated. The patients mean age at onset of SLE was 26.05 and 42.29 for NPSLE. The mean time between the onset of SLE and first NPSLE symptoms was 05.57 years. The disease has already been initiated as NPSLE in 4 patients. The SLEDAI average score was 31.69 and the SLICC/ACR-DI score was 06.96. The patients underwent an average of 09.23 cyclophosphamide. The SISCOM findings showed functional and pathological states on different brain regions. The rCBF changes were not associated with index scores. There was, however, a trend towards an association between lower SLEDAI scores with improvement and higher SLEDAI with worsening in SISCOM, Also a trend of association between lower SLICC score with improvement, and higher SLICC with worsening. The female gender was predictive of activation and worsening, separately, and deactivation and worsening in a set. Non-white patients were predictive of worsening. The seizure was predictive of deactivation separately, and deactivation and worsening in a set. Finally, normal C3 was a predictor of improvement. The present study showed dynamic brain changes in NPSLE patients. SISCOM technique showed improved rCBF in some brain areas, and worsening, activation and deactivation in others. There were associations between rCBF changes and gender, skin colour and complement C3 and association trends with SLEDAI and SLICC scores.

Regional cerebral blood flow at rest in obesity.

OBJECTIVES: Imaging studies have shown brain abnormalities associated with eating behavior (taste perception, food intake, and food reward), neural connectivity, and cognition related to obesity. The aim of this study was to investigate whether obese individuals have changes in regional cerebral blood flow (rCBF) during fasting and rest using single-photon emission computed tomography (SPECT), and whether these differences are associated with body fat and serum levels of leptin, insulin, and glucose. METHODS: For this purpose, rCBF assessed by ([99]mTc)-ECD-SPECT was compared between 10 obese women (30 ± 5 y of age, body fat: 38 ± 3 kg) and 10 lean women (30 ± 6 y of age, body fat: 17 ± 5 kg) using statistical parametric mapping. Pearson's coefficient and linear regression were used to search for associations among variables. RESULTS: The obese women showed antagonic rCBF in the left frontoparietal region and greater rCBF in areas related to the default mode network and the salience network (P = 0.0001). Positive linear correlations of rCBF, body fat, and the serum levels of glucose and insulin were found, but no associations were detected using linear regression. CONCLUSION: Obese women showed rCBF differences in areas related to the frontoparietal neural circuit, the default mode network, and the salience network, suggesting loss of cognitive control and a higher perception of physiologic processes, such as hunger. Hyperactivation in these areas might jeopardize the recognition of changes in energy homeostasis.

The Reperfusion of Ischemic Vasculitis in a Patient with Neuropsychiatric Lupus: A Serial Single-Photon Emission Computed Tomography Study.

We report a 44-year-old female patient diagnosed with neuropsychiatric systemic lupus erythematosus and probable ischemia secondary to vasculitis in the speech motor region (Broca's area). After corticosteroid treatment, the patient recovered the speech, presented clinical improvement, and SISCOM showed reperfusion of the ischemic area (luxury perfusion).

Characterization of resolution, sensitivity, and shielding of a gamma-probe for sentinel lymph node localization: an experimental study.

OBJECTIVE: The aim of this study was to evaluate angular, spatial, and energy resolution, sensitivity, and shielding of a gamma-probe. MATERIALS AND METHODS: The EUROPROBE II gamma-probe (EuroRad) with sources of technetium-99m was assessed according to NEMA NU-3-2004. Resolution tests were evaluated considering the full width at half maximum (FWHM). The following parameters were evaluated: angular resolution in air, spatial resolution with a scattering medium and in air, energy resolution, and sensitivity and shielding. The collimator was used to evaluate angular and spatial resolution, sensitivity, and shielding. Background radiation was considered and did not affect the counts. RESULTS: FWHM of angular resolution (at 3/30 cm) was 39.17°/33.13° with the collimator and 74.08°/71.51° without the collimator; FWHM of spatial resolution in air at 10 mm was 13.32 mm with the collimator and 21.23 mm without the collimator. Energy resolution (%FWHM) was 20.51%. Sensitivity at 10 mm was 4.642±5 cps/MBq without the collimator and 1.063±2 cps/MBq with the collimator; shielding effectiveness of the probe tip was 99.52%. Background was not relevant to the counts. CONCLUSION: We showed that the collimator improved angular and spatial resolution to the detriment of sensitivity. Feasible results of energy resolution, sensitivity, and shielding were achieved.

Systematic review of the efficacy in seizure control and safety of neuronavigation in epilepsy surgery: The need for well-designed prospective studies.

PURPOSE: To evaluate the efficacy of surgery with neuronavigation compared to conventional neurosurgical treatment of epilepsy in terms of safety and seizure outcomes and to assess the quality of the evidence base of neuronavigation in this clinical context. METHOD: Systematic review using the electronic databases of Cochrane, CRD, PubMed, Embase, SciELO and LILACS in Portuguese, English and Spanish. The [MeSH] terms included "epilepsy" and "neuronavigation". ELIGIBILITY CRITERIA: Studies assessing surgery with neuronavigation for the surgical treatment of epilepsy or brain injuries associated with epileptic seizures. RESULTS: We identified 28 original articles. All articles yielded scientific evidence of low quality. Outcome data presented in the articles identified was heterogeneous and did not amount to compelling evidence that epilepsy surgery with neuronavigation produces higher rates of seizure control, a reduced need for reoperations, or lower rates of complications or postoperative neurological deficits. CONCLUSION: We were unable to find any publications providing convincing evidence that neuronavigation improves outcomes of epilepsy surgery. Whilst this does not mean that neuronavigation cannot improve neurosurgical outcomes in this clinical setting, well-designed research studies evaluating the role of neuronavigation are urgently needed.

Good response of low-fat/high-protein diet in a patient with chyluria.

UNLABELLED: Chyluria is an inappropriate urinary excretion of chyle that turns the urine milky. A nutritional approach based on low-fat/high-protein content diet associated or not with medium-chain triglyceride (MCT) showed to be an efficient conservative treatment to improve the milky urine appearance in a patient with chyluria. CASE REPORT: A 30-year-old female patient was admitted with chyluria of unknown etiology. An ureteropyeloscopy revealed a single lesion in each kidney, both with linear aspect and measuring 5 mm in extension. These lesions were located close to the renal papillae and were leaking a cloudy and milky fluid. Both lesions were laser cauterized followed by improvement of the milky urine. However, the chyluria relapsed after few months and a low-fat/high-protein content diet with 10 g of soybean oil to meet the requirements essential fatty acids (EFA) and with MCT from coconut oil as alternative to prepare foods was started. Few weeks later the patient returned reporting consistent improvement of the milky urine appearance related with the use of the diet. However since the diet was tasteless and time consuming to prepare, she reported low compliance to diet with MCT and the milky urine relapsed. The MCT was discontinued and the diet with EFA source was maintained with better compliance. Since then the chyluria remains in remission. In conclusion, the dramatic improvement of the milky urine with low-fat/high-protein diet with EFA source observed in our patient demonstrates that this nutritional approach is efficient with fast results to treat chyluria during long term.

Late evaluation of the relationship between morphological and functional renal changes and hypertension after non-operative treatment of high-grade renal injuries.

OBJECTIVE: To evaluate the anatomical and functional renal alterations and the association with post-traumatic arterial hypertension. METHODS: The studied population included patients who sustained high grades renal injury (grades III to V) successfully non-operative management after staging by computed tomography over a 16-year period. Beyond the review of medical records, these patients were invited to the following protocol: clinical and laboratory evaluation, abdominal computed tomography, magnetic resonance angiography, DMSA renal scintigraphy, and ambulatory blood pressure monitoring. The hypertensive patients also were submitted to dynamic renal scintigraphy (99mTc EC), using captopril stimulation to verify renal vascular etiology. RESULTS: Of the 31 patients, there were thirteen grade III, sixteen grade IV (nine lacerations, and seven vascular lesions), and two grade V injuries. All the patients were asymptomatic and an average follow up post-injury of 6.4 years. None had abnormal BUN or seric creatinine. The percentage of renal volume reduction correlates with the severity as defined by OIS. There was no evidence of renal artery stenosis in Magnetic Resonance angiography (MRA). DMSA scanning demonstrated a decline in percentage of total renal function corresponding to injury severity (42.2 ± 5.5% for grade III, 35.3 ± 12.8% for grade IV, 13.5 ± 19.1 for grade V). Six patients (19.4%) had severe compromised function (< 30%). There was statistically significant difference in the decrease in renal function between parenchymal and vascular causes for grade IV injuries (p < 0.001). The 24-hour ambulatory blood pressure monitoring detected nine patients (29%) with post-traumatic hypertension. All the patients were male, mean 35.6 years, 77.8 % had a familial history of arterial hypertension, 66.7% had grade III renal injury, and average post-injury time was 7.8 years. Seven patients had negative captopril renography. CONCLUSIONS: Late results of renal function after conservative treatment of high grades renal injuries are favorable, except for patients with grades IV with vascular injuries and grade V renal injuries. Moreover, arterial hypertension does not correlate with the grade of renal injury or reduction of renal function.

The neurobiological substrates of behavioral manifestations during temporal lobe seizures: a neuroethological and ictal SPECT correlation study.

Ictal behavior coupled with SPECT findings during 28 seizures in patients with temporal lobe epilepsy (TLE) with unilateral hippocampal sclerosis (13 left; 15 right) was displayed as flowcharts from right-sided (RTLE) plus left-sided (LTLE) seizures. Ictal SPECT was classified blind to neuroethology. Behaviors were categorized as ipsilateral to the epileptogenic zone (IL), contralateral to the epileptogenic zone (CL), or bilateral. SPECT intensity and region were categorized as IL or CL to the epileptogenic zone. All patients developed automatisms and had hyperperfusion in their temporal lobes. Patients' verbal responses to questions had statistical interactions in RTLE but not in LTLE sum. Most CL dystonic posturing was correlated to IL basal ganglia hyperperfusion. Basal ganglia activation occurred in seizures without dystonic posturing and CL manual automatisms, and lack of IL dystonic posturing and the presence of CL cerebellar hemispheric hyperperfusion were also observed. Coupling of neuroethology and SPECT findings reliably evaluates ictal behavior and functionality of associated brain areas.

Ictal technetium-99 m ethyl cysteinate dimer single-photon emission tomographic findings in epileptic patients with polymicrogyria syndromes: a subtraction of ictal-interictal SPECT coregistered to MRI study.

PURPOSE: To describe the ictal technetium-99 m-ECD SPECT findings in polymicrogyria syndromes (PMG) during epileptic seizures. METHODS: We investigated 17 patients with PMG syndromes during presurgical workup, which included long-term video-electroencephalographic (EEG) monitoring, neurological and psychiatry assessments, invasive EEG, and the subtraction of ictal-interictal SPECT coregistered to magnetic resonance imaging (MRI) (SISCOM). RESULTS: The analysis of the PMG cortex, using SISCOM, revealed intense hyperperfusion in the polymicrogyric lesion during epileptic seizures in all patients. Interestingly, other localizing investigations showed heterogeneous findings. Twelve patients underwent epilepsy surgery, three achieved seizure-freedom, five have worthwhile improvement, and four patients remained unchanged. CONCLUSIONS: Our study strongly suggests the involvement of PMG in seizure generation or early propagation. Both conventional ictal single-photon emission computed tomography (SPECT) and SISCOM appeared as the single contributive exam to suggest the localization of the epileptogenic zone. Despite the limited number of resective epilepsy surgery in our study (n = 9), we found a strong prognostic role of SISCOM in predicting surgical outcome. This result may be of great value on surgical decision-making of whether or not the whole or part of the PMG lesion should be surgically resected.

Neurobiological substrates of electroconvulsive therapy for Tourette syndrome: a Serial SISCOM study.

We report the case of an adult male patient with Tourette syndrome, self-injurious behavior and depression, refractory to conventional treatment, and whose symptoms remitted after electroconvulsive therapy. Serial Technetium 99m-Ethyl-Cysteinate-Dimer single photon emission tomographies were applied, before, during, and after electroconvulsive therapy. The neural substrates of this treatment process were further analyzed by woxel-wise subtracted single photon emission tomography images.

Epistaxis during a generalized seizure leading to an atypical ictal SPECT finding at the skull base

INTRODUCTION: Generalized tonic-clonic seizures (GTCS) are among the most dramatic types of epileptic seizures and may be accompanied by rising blood pressure and pulse rate, physical injuries from falling, muscular convulsions, tongue biting, or aspiration pneumonia. Epistaxis is an uncommon complication of generalized seizures and investigations should exclude local or systemic disorders. OBJECTIVE: We aim to report a 29-year-old male patient with medically intractable right temporal lobe epilepsy whose ictal SPECT showed a conspicuous high extracerebral accumulation of the tracer at the skull base. METHODS: The tracer 99mTc-ECD was injected during a GTCS complicated by simultaneous epistaxis during a long term video-electroencephalographic monitoring. RESULTS: Initially, SPECT images showed an unexpected hot spot at the skull base suggesting pharyngeal or pituitary tumors. Clinical history disclosed chronic sinusitis and rare episodes of epistaxis. White and red cells blood count, platelet count, serum biochemistry, coagulation tests, and rest arterial blood pressure were normal. Computed tomography and MRI excluded sinusoidal expansive or vascular lesions, head trauma, fractures or acute infections. Subtracted SPECT disclosed a focal high concentration of the radiotracer within the left sphenoid sinus, probably related to the nose bleeding. CONCLUSION: This is a singular case of a brain SPECT artifact secondary to a nasal bleeding during a generalized seizure that was misinterpreted as neoplastic disease. Also, this case raises concerns about the pathophysiological relationship among epileptic seizures, nasal bleedings and chronic sinusitis.

INTRODUÇÃO: As crises generalizadas tônico-clônicas (CGTC) constituem-se em formas dramáticas de crises epilépticas e podem acompanhar-se de aumento da pressão arterial e da freqüência cardíaca, traumas decorrentes de quedas, abalos musculares, mordedura de língua e pneumonias aspirativas. A epistaxe é uma complicação incomum e investigações médicas devem excluir distúrbios locais ou sistêmicos. OBJETIVO: Relatar o caso de um paciente de 29 anos de idade com epilepsia do lobo temporal direito clinicamente intratável e cujo SPECT crítico mostrou uma área de acúmulo anormal do traçador na base do crânio. MÉTODO: O traçador 99mTc-ECD foi injetado durante uma CGTC complicada por simultânea epistaxe na narina esquerda durante a monitorização vídeo-eletroencefalográfica. RESULTADOS: O SPECT crítico evidenciou área de acúmulo anormal do traçador na base do crânio sugerindo tumor de natureza neuronal ou glial e de origem faríngea ou pituitária. A história clínica evidenciou sinusite crônica e raros episódios de epistaxe. Exames hematológicos das series branca e vermelha, contagem de plaquetas, bioquímica sérica, testes de coagulação e medidas de pressão arterial em repouso foram normais. A Tomografia Computadorizada e a Ressonância Magnética (RM) excluíram lesões expansivas ou vasculares, trauma craniano, fraturas ou infecções agudas. A subtração baseada em voxel das imagens de SPECT crítico e intercrítico alinhada ao espaço 3D da RM evidenciou uma alta concentração do traçador no seio esfenoidal esquerdo. CONCLUSÃO: Este é um caso singular de um artefato ao SPECT crítico secundário ao sangramento nasal durante uma crise epiléptica e que foi inicialmente interpretado como doença neoplásica. Este caso também indaga sobre o possível relacionamento fisiopatológico entre crises epilépticas, sangramentos nasais e sinusite crônica.

Pontine activation during focal status epilepticus secondary to hamartoma of the floor of the fourth ventricle.

Epileptic seizures associated with hamartoma of the floor of the fourth ventricle (HFFV) are generally resistant to antiepileptic medication, may evolve into status epilepticus, and can respond favorably to surgical therapy. HFFV are rare, and during the neonatal or infantile period may be associated with repetitive and stereotyped attacks of hemifacial spasm, eye blinking, facial movements, head deviation and dysautonomic manifestations. Similarly, to gelastic seizures provoked by hypothalamic hamartomas, it has been suggested that these spells arise from within the HFFV, thus constituting a type of non-cortical seizure. We report an infant female patient that developed continuous left hemifacial attacks since she was 2-month-old, and that underwent presurgical investigation when she was 18-month-old. MRI disclosed a left sided HFFV, Video-EEG showed non-localizing and non-lateralizing findings, and SPECT aligned with MRI showed marked hyperperfusion within the hamartoma, spreading to ipsilateral cerebellar parenchyma and brainstem nuclei. Patient underwent lesionectomy and became seizure-free. We found two evidences on literature supporting the hypothesis of non-cortical seizures related to HFFV. The first, intra-cerebellar recordings surrounding hamartoma showed electrical activity related to seizures. The second, subtracted SPECT co-registered MRI showed hyperemia within hamartoma. The present report provides the third additional evidence. We found the involvement not only of the hamartoma, and pars of cerebellar hemisphere, but also an intense hyperemia involving brainstem nuclei during seizures. We believe that all these findings suggest a short subcortical network responsible for generating seizures in HFFV patients.

SPECT and PET Imaging in epilepsy: principles and clinical applications

Functional neuroimaging with single photon emission computed tomography (SPECT) and positron emission tomography (PET) has documented several perfusion, metabolic and neurochemical dysfunctions in a variety of neurological conditions. In the presurgical workup of medically intractable epilepsies, a group of investigations is included to ascertain the lacalization of the epileptogenic zone. The aim of the present study is to review the principles and revelant investigations about the application of SPECT and PET to the epilepsies. We reviewed the physiological aspects of cerebral blood flow during seizures, pharmacological characteriristics of radiopharmaceuticals, and clinical applications of SPECT in the investigation of epileptic seizures, and provided a review of the main clinical contributions of PET in epilepsy. SPECT and PET have an important and complementary role in the presurgical evaluation as well as in pathophysiological researchs about epilepsy. Both may evaluate the ictal and interictal states of cerebral functions, playing a particular role in those patients who present with inconclusive studies of both Magnetic Resonance Imaging and the Video - EEG monitoring. Additionally, they may avoid or guide invasive neurophysiological studies, and help suggest the localization of the epileptogenic zone in those cases with extensive or multiple lesions

Interictal SPECT in patients with mesial temporal lobe epilepsy and psychosis: a case-control study.

Psychosis is commonly observed in patients with mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS). Interictal single photon emission computed tomography (SPECT) was performed to compare regional cerebral blood flow (rCBF) pattern of MTLE-HS patients with psychosis of epilepsy (POE) comorbidity and MTLE-HS patients without any psychiatric disorders (Control group). For this, 21 patients with POE and 23 Control patients were matched by educational level, clinical, demographic, electrophysiological, and MRI data. SPECT scans were acquired using (99m)Tc and interpreted with a semiquantitative method. We analyzed brain regions of interest (ROI) of frontal, temporal, and parietal cortex, in addition to subcortical structures. There were no significant statistical differences of ROI between the POE group and the Control group after Bonferroni adjustment. However, we observed a trend for rCBF increase of right posterior cingulate in the POE Group. This increase would be in accordance with recent findings of cingulate abnormalities in schizophrenia, suggesting that abnormal function in this region might be associated with the psychotic phenomena.

Ictal chronology and interictal spikes predict perfusion patterns in temporal lobe epilepsy: a multivariate study.

Typical (TPP) and atypical (APP) perfusion patterns (PP) may be seen in ictal SPECT of patients with temporal lobe epilepsy (TLE). APP may pose problem in the lateralization of the epileptogenic zone (EZ). We aimed to investigate predictive variables for the occurrence of TPP and APP. Fifty-one TLE patients were submitted to successful anterior-mesial temporal lobectomy. Univariate (UVA) and multivariate (MVA) analysis were performed upon clinical data, distribution of interictal spikes, and ictal chronology of seizures. From MVA, a final predictive model (FPM) was determined to better predict TPP and APP. Forty patients showed TPP (78.5%) and 11 patients APP (21.5%). Accuracy of ictal SPECT was higher in the unilateral (UIS) than in the bilateral (BIS) interictal spikes group (P = 0.05). FPM showed that patients exhibiting BIS, with shorter proportion of the electrographic seizure occurring after completion of tracer injection, and longer clinical than EEG seizure duration had more APP (P = 0.003). Generalized tonic-clonic seizures did not result in more APP. We concluded that analysis of ictal SPECT in TLE requires the knowledge of TPP and APP, the distribution of interictal spikes on temporal lobes and the ictal chronology of seizures. BIS showed that beyond a more complex epileptogenicity and seizure propagation, they may also lead to APP.

Fragile X syndrome: clinical, electroencephalographic and neuroimaging characteristics

We studied 11 patients (9 males) with cytogenetic diagnosis of fragile X syndrome (FXS) with the purpose of investigating the neural circuitry involved in this condition. The ages ranged from 8 to 19. All the individuals presented large ears, elongated faces and autistic features. Ten patients had severe mental retardation. Attention disorder was found in 10 individuals. Electroencephalographic recordings were abnormal in 6 of 10 patients examined, showing focal epileptiform discharges predominantly in frontal and parietal areas. All patients underwent magnetic resonance imaging studies which were abnormal in 8 of them. The most important abnormalities were reduction of the cerebellar vermis and enlargement of the IV ventricle. Single photon emission computerized tomography (SPECT) was performed in 7 patients and was abnormal in all of them, the most frequent finding being a hypoperfusion of the inferior portions of the frontal lobes. Based on the clinical picture, neuropsychological findings and functional and structural imaging studies we suggest that FXS presents with a dysfunction involving a large area of the central nervous system: cerebellum - basal frontal regions - parietal lobes. The literature points to a disturbance involving the same neural circuitry in patients with austin.