Surgery and Radiosurgery in Autism: A Retrospective Study in 10 Patients.

INTRODUCTION: A subgroup of patients with autism spectrum disorder (ASD) show self or heteroaggression, dyscontrol episodes, and others are of obsessive-compulsive disorder (OCD) profile; some of them are resistant to medical and behavioural treatment. We describe the long-term outcome in a group of these patients, treated with radiofrequency brain lesions or combined stereotactic surgery and Gamma Knife (GK) radiosurgery. METHODS: We reviewed the medical records of 10 ASD patients with pathological aggressiveness and OCD, who had undergone radiofrequency lesions and/or radiosurgery with GK in our institution. RESULTS: The 10 patients had a significant reduction of their symptoms (PCQ 39.9 and 33, OAS 11.8 and 5, CYBOCS-ASD 30.4 and 20), preoperatively and in the last follow-up, respectively; p < 0.005 (in all cases), although all but 2 needed more than 1 treatment to maintain this improvement. CONCLUSIONS: We observed a marked improvement in behaviour, quality of life, and relationship with the environment in all our 10 patients after the lesioning treatments, without long-lasting side effects.

Epilepsy Associated with Temporal Pole Encephaloceles : An Unrecognized Manifestation of Idiopathic Intracranial Hypertension?

PURPOSE: We hypothesized that epilepsy associated with temporal pole encephaloceles (ETPE) could be the consequence and an unrecognized manifestation of idiopathic intracranial hypertension (IIH). To test this hypothesis in patients with ETPEs we evaluated: 1) the frequency of two radiological signs of IIH and 2) whether these patients develop over time clinical manifestations suggestive of elevated intracranial pressure (ICP). METHODS: Case-control study comparing two cardinal radiological signs of IIH pituitary gland height (PGH) and the diameter of the two optic nerve sheaths (ONS) between 29 patients with ETPEs (TPE group) and 29 patients with focal epilepsy of other etiologies (control group), adjusted by age, sex, body mass index (BMI), age at epilepsy onset and epilepsy duration. Analysis was performed using conventional and ordinal logistic regression. The measurements in both groups were compared with validated radiological criteria of IIH. RESULTS: Of the patients 17 (63%) in the TPE group had all three measurements over the cut-off values for IIH, while no patients in the control group had all three findings. The TPE group patients had lower PGH (3.2 ± 1.0 mm vs. 4.9 ± 1.3 mm, p < 0.001) and larger diameter of ONS than controls (p < 0.001), being similar to validated data of IIH. No patient with TPE had clinical manifestations of elevated ICP (mean follow-up 15.1 ± 11.7 years). CONCLUSION: Patients with ETPEs frequently had radiological signs of IIH while not developing typical manifestations of elevated ICP over time. In this way, ETPEs could be an unrecognized manifestation of IIH, and temporal lobe seizures the only clinical expression of this epilepsy syndrome.

Cortical plasticity catalyzed by prehabilitation enables extensive resection of brain tumors in eloquent areas.

OBJECTIVE The extent of resection is the most important prognostic factor following brain glioma surgery. However, eloquent areas within tumors limit the extent of resection and, thus, critically affect outcomes. The authors hypothesized that presurgical suppression of the eloquent areas within a tumor by continuous cortical electrical stimulation, coupled with appropriate behavioral training ("prehabilitation"), would induce plastic reorganization and enable a more extensive resection. METHODS The authors report on 5 patients harboring gliomas involving eloquent brain areas within tumors as identified on intraoperative stimulation mapping. A grid of electrodes was placed over the residual tumor, and continuous cortical electrical stimulation was targeted to the functional areas. The stimulation intensity was adjusted daily to provoke a mild functional impairment while the function was intensively trained. RESULTS The stimulation intensity required to impair function increased progressively in all patients, and all underwent another operation a mean of 33.6 days later (range 27-37 days), when the maximal stimulation voltage in all active contacts induced no functional deficit. In all cases, a substantially more extensive resection of the tumor was possible. Intraoperative mapping and functional MRI demonstrated a plastic reorganization, and most previously demonstrated eloquent areas within the tumor were silent, while there was new functional activation of brain areas in the same region or toward the contralateral hemisphere. CONCLUSIONS Prehabilitation with continuous cortical electrical stimulation and appropriate behavioral training prior to surgery in patients with WHO Grade II and III gliomas affecting eloquent areas accelerate plastic changes. This can help maximize tumor resection and, thus, improve survival while maintaining function.

Small temporal pole encephalocele: A hidden cause of "normal" MRI temporal lobe epilepsy.

OBJECTIVE: Small temporal pole encephalocele (STPE) can be the pathologic substrate of epilepsy in a subgroup of patients with noninformative magnetic resonance imaging (MRI). Herein, we analyzed the clinical, neurophysiologic, and radiologic features of the epilepsy found in 22 patients with STPE, and the frequency of STPE in patients with refractory focal epilepsy (RFE). METHODS: We performed an observational study of all patients with STPE identified at our epilepsy unit from January 2007 to December 2014. Cases were detected through a systematic search of our database of RFE patients evaluated for surgery, and a prospective collection of patients identified at the outpatient clinic. The RFE database was also employed to analyze the frequency of STPE among the different clinical subgroups. RESULTS: We identified 22 patients with STPE (11 women), including 12 (4.0%) of 303 patients from the RFE database, and 10 from the outpatient clinic. The median age was 51.5 years (range 29-75) and the median age at seizure onset was 38.5 years (range 15-73). Typically, 12 (80%) of 15 patients with left STPE reported seizures with impairment of language. Among the RFE cases, STPE were found in 9.6% of patients with temporal lobe epilepsy (TLE), and in 0.5% of those with extra-TLE (p = 0.0001). STPEs were more frequent in TLE patients with an initial MRI study reported as normal (23.3%) than in those with MRI-visible lesions (1.4%; p = 0.0002). Stereo-electroencephalography was performed in four patients, confirming the localization of the epileptogenic zone at the temporal pole with late participation of the hippocampus. Long-term seizure control was achieved in four of five operated patients. SIGNIFICANCE: STPE can be a hidden cause of TLE in a subgroup of patients with an initial report of "normal" MRI. Early identification of this lesion may help to select patients for presurgical evaluation and tailored resection.

Seizure and developmental outcomes after hemispherectomy in children and adolescents with intractable epilepsy.

PURPOSE: The aim of this study is to describe a series of pediatric hemispherectomies, reviewing pathologic substrate, epilepsy characteristics and seizure outcome as well as developmental profiles, before and after surgery, in different domains. METHODS: Seventeen patients with full pre-surgical work-up, minimum follow-up of 12 months, and at least one post-surgical neuropsychological evaluation were selected. Three had Rasmussen encephalitis (RE), five hemispheric malformations of cortical development (MCD), and nine hemispheric vascular lesions. RESULTS: At latest follow-up, all patients with RE and 66.7 % of those with vascular lesions are in Engel's class I; in the latter group, pre-surgical independent contralateral EEG discharges statistically correlated with a worse seizure outcome. Patients with MCD showed the worst seizure outcome. Pre-surgical language transfer to the right hemisphere was confirmed in a boy with left RE, operated on at 6 years of age. Patients with MCD and vascular lesions already showed severe global developmental delay before surgery, which persists afterwards. A linear correlation was found between earlier age at surgery and better outcome in personal-social, gross motor, and adaptive domains, in the vascular lesions group. The case with highest cognitive improvement had continuous spike and wave during sleep on pre-surgical EEG. CONCLUSIONS: Pathologic substrate was the main factor related with seizure outcome. In children with MCD and vascular lesions, although developmental progression is apparent, significant post-surgical improvements are restricted by the severity of pre-surgical neuropsychological disturbances and a slow maturation. Early surgery assessment is recommended to enhance the possibilities for a better quality of life in terms of seizure control, as well as better autonomy and socialization.

Epilepsy surgery in children with developmental tumours.

We report our experience regarding evaluation, surgical treatment and outcomes in a population of 21 children with histopathologically confirmed developmental tumours [nine dysembryoplastic neuroepithelial tumours (DNET), ten gangliogliomas (GG) and two gangliocytomas (GC)] and related epilepsy, analyzing video-EEG, MRI and neuropsychological data, before and after surgery. Most children had focal epilepsy correlating well with lesion location. One patient had epileptic spasms and generalized discharges. Tumours were located in the temporal lobe in 13 patients. Mean age at surgery was 11.16 years. Postsurgical MRI showed residual tumour growth in one DNET. One child had a recurrent ganglioglioma with anaplastic transformation. At latest follow-up (mean 4.68 years) 95.2% of patients were seizure-free and no significant neuropsychological declines were observed. Evidence from our study suggests that, in this setting, surgery should be performed before criteria for refractory epilepsy are met, particularly in cases with early seizure onset, in order to optimize cognitive outcome.

Pascual-Castroviejo type II syndrome (P-CIIS). Importance of the presence of persistent embryonic arteries.

INTRODUCTION: Cutaneous hemangioma and vascular malformation are two vascular abnormalities frequently associated with absence or hypoplasia of one or both carotid and/or vertebral arteries, presence of persistent embryonic arteries, especially the trigeminal, cerebellar malformations, and coarctation of the aortic arch and/or congenital cardiopathy. This disease is known as Pascual-Castroviejo type II syndrome (P-CIIS) and by the acronym PHACE. MATERIAL AND METHODS: Three patients (two females and one male) with facial hemangioma are studied during the first years of age by magnetic resonance angiography (MRA) and their vascular evolution to adult age followed through several MRA controls. RESULTS: All the three patients showed persistence of the trigeminal artery associated to other intra- and extracranial vascular abnormalities of type hemangioma or hemangiomatous arteries that presented progressive involution with decreased arterial caliber without appearing cerebrovascular stroke or hypoxic zones because, at the same time, collateral vascularization appeared through connections between the embryonic arteries and the peripheral branches of the internal carotids or connections between branches of the external and internal carotids. Only one patient had obstruction of a branch of the left middle cerebral artery after 3 days, with gastroenteritis with elevated fever at 17 months of life that caused parenchymal infarct in the left cerebral region supplied by the obstructed artery. CONCLUSIONS: The presence of embryonic arteries, especially the trigeminal, and connections between branches of the internal and external carotids, mainly through the internal maxillary and ophthalmic arteries, ensure the cerebral supply in the P-CIIS despite the progressive involvement of the cerebral arteries.

A clinical and magnetoencephalography study of MRI-negative startle epilepsy.

OBJECTIVE: The goal of this study was to investigate clinical findings, ictal semiology, and results of video/electroencephalography (video/EEG), and magnetoencephalography (MEG) in patients with startle epilepsy and normal brain MRI. METHODS: Four patients (mean age 12.5 years) with startle epilepsy were investigated with MRI, video/EEG, and MEG. RESULTS: Epilepsy diagnosis was established in childhood, and all had spontaneous and reflex seizures. Reflex seizures were triggered by sudden, unexpected sounds and tactile stimuli. The neurological examinations and MRIs were normal. MEG recordings showed focal epileptiform activity. An ictal MEG was obtained in one patient. Source modeling yielded dipole sources in right central frontal region. CONCLUSION: The present study demonstrates that the origin of epileptiform activity in startle epilepsy can be localized in brain areas associated with supplementary motor seizures, even in patients with normal brain MRI. MEG adds complementary information to the localization of epileptiform activity and can be useful in planning invasive studies in cases evaluated for epilepsy surgery.

Predicting the histopathological grade of cerebral gliomas using high b value MR DW imaging at 3-tesla.

BACKGROUND: Our aim was to prospectively assess whether magnetic resonance (MR) diffusion-weighted (DW) imaging using high b values can predict better than b value of 1,000 s/mm(2) the histopathological grade of cerebral gliomas. METHODS: Fifty-four patients with histologically verified brain gliomas (35 high-grade and 19 low-grade gliomas) underwent MR DW imaging. Isotropic DW images and apparent diffusion coefficient (ADC) were obtained with b values of 1,000 and 3,000 s/mm(2). Each tumor was evaluated as being hyperintense, iso-intense or hypointense to normal, contralateral-hemisphere white matter. RESULTS: Most of the patients with high- and low-grade gliomas showed areas of increased signal intensity on their isotropic images, obtained with a b value of 1,000 s/mm(2). However, with a b value of 3,000 s/mm(2) the areas of increased signal intensity were seen in 97.1% of the high-grade gliomas, while 94.7% of the low-grade gliomas showed no area of increased signal intensity. The mean area under the ROC curve for ADC ratio, obtained with a b value of 3,000 s/mm(2), was significantly higher than that obtained with 1,000 s/mm(2) (.932 vs. .856, P= .04). CONCLUSION: High b value DW MR might be useful as a complementary tool in preoperative assessment of the histopathological grading of cerebral gliomas.

The claustrum and its projection system in the human brain: a microsurgical and tractographic anatomical study.

OBJECT: The goal in this study was to examine the microsurgical and tractographic anatomy of the claustrum and its projection fibers, and to analyze the functional and surgical implications of the findings. METHODS: Fifteen formalin-fixed human brain hemispheres were dissected using the Klingler fiber dissection technique, with the aid of an operating microscope at x 6-40 magnification. Magnetic resonance imaging studies of 5 normal brains were analyzed using diffusion tensor (DT) imaging-based tractography software. RESULTS: Both the claustrum and external capsule have 2 parts: dorsal and ventral. The dorsal part of the external capsule is mainly composed of the claustrocortical fibers that converge into the gray matter of the dorsal claustrum. Results of the tractography studies coincided with the fiber dissection findings and showed that the claustrocortical fibers connect the claustrum with the superior frontal, precentral, postcentral, and posterior parietal cortices, and are topographically organized. The ventral part of the external capsule is formed by the uncinate and inferior occipitofrontal fascicles, which traverse the ventral part of the claustrum, connecting the orbitofrontal and prefrontal cortex with the amygdaloid, temporal, and occipital cortices. The relationship between the insular surface and the underlying fiber tracts, and between the medial lower surface of the claustrum and the lateral lenticulostriate arteries is described. CONCLUSIONS: The combination of the fiber dissection technique and DT imaging-based tractography supports the presence of the claustrocortical system as an integrative network in humans and offers the potential to aid in understanding the diffusion of gliomas in the insula and other areas of the brain.

Occipital lobe epilepsy secondary to ulegyria.

OBJECTIVE: To analyse clinical and therapeutic aspects of epilepsy secondary to ulegyria in adults. PATIENTS: Out of 1,020 consecutive patients studied at a tertiary care epilepsy centre, eight cases of ulegyria were identified. All patients had comprehensive clinical evaluation, neuropsychological testing, interictal EEG, and brain magnetic resonance imaging (MRI). In addition, five patients had video-EEG monitoring. Ulegyria was confirmed by histological analysis in two patients who had successful epilepsy surgery. RESULTS: All patients had a history of perinatal asphyxia. In four of them there was psychomotor developmental delay. Mean age at onset of seizures was 5.8 years (range first week to 21 years). Brain MRI demonstrated predominant involvement of occipito-parietal cortical and subcortical areas. This posterior distribution of lesions was also supported by the presence of auras with occipital and parietal semiology in six patients, and signs of visuospatial dysfunction in five. Four patients had medically refractory epilepsy and two of them had significant improvement with surgical treatment. CONCLUSIONS: In this group of adult epileptic patients with ulegyria brain MRI, ictal semiology, and neurological examination are consistent with occipital lobe epilepsy. Most patients have severe epilepsy, but in some of them epilepsy can be controlled with antiepileptic drugs, while in others surgical treatment can be effective. Brain MRI criteria of ulegyria are well established, and in two cases it was possible to confirm their diagnosis with histological analysis.