Biomedical subjects

Fernando Cendes

Publications and source records attributed to Fernando Cendes.

86 records · Page 5Linked to original sources

PubMed2002

Magnetic resonance imaging evidence of hippocampal sclerosis in asymptomatic, first-degree relatives of patients with familial mesial temporal lobe epilepsy.

OBJECTIVE: To investigate the presence of hippocampal atrophy (HA) and other magnetic resonance imaging (MRI) signs of hippocampal sclerosis (HS) in asymptomatic relatives of patients with familial mesial temporal lobe epilepsy (FMTLE). METHODS: We invited first-degree, asymptomatic relatives of patients with FMTLE to participate in our MRI protocol. After obtaining informed consent, all participating individuals underwent an MRI examination. Hippocampal abnormality was determined by qualitative and volumetric analyses, using a standard protocol. RESULTS: We studied 52 asymptomatic individuals (27 men), with a mean age of 32 years (range, 7-71 years), from 11 families with FMTLE. Volumetric studies showed HA in 18 (34%) of 52 individuals: 11 had left HA and 7 had bilateral HA. In addition, careful visual analysis of T1- and T2-weighted images showed additional classic MRI signs of HS (such as abnormal T2 signal and/or abnormal internal structure) in 14 of these 18 individuals. There was no age difference between individuals with and without HA (t test, P =.80). CONCLUSIONS: Our findings indicate that MRI evidence of HS is not necessarily related to seizure severity and may occur in individuals who never had seizures. In addition, these observations strongly indicate that HS in FMTLE is not a consequence of recurrent seizures and is determined by a strong genetic predisposition. The determination of seizure severity in patients with FMTLE probably depends on the interaction of different factors, both genetic and environmental.

Adolescent↗

PubMed2002

Crossed cerebellar atrophy in patients with precocious destructive brain insults.

OBJECTIVE: To analyze the frequency and pathogenetic factors of crossed cerebellar atrophy (CCA) in adult patients with epilepsy secondary to destructive brain insults of early development. METHODS: We studied 51 adult patients with epilepsy and precocious destructive lesions. Patients were divided into 3 groups according to the topographic distribution of their lesions on magnetic resonance imaging: group A, hemispheric (n = 9); group B, main arterial territory (n = 25); and group C, arterial border zone (n = 17). We evaluated the presence of CCA visually and with cerebellar volumetric measurement, correlating it with the clinical data. Other features shown on magnetic resonance imaging, such as the thalamus, brainstem, and middle cerebellar peduncle, were also carefully analyzed. RESULTS: Seven patients (13%) had CCA that was associated with the extent of the supratentorial lesion (6 from group A, 1 from group B, and none from group C; P<.001). Status epilepticus was present in 6 patients from group A and in none from the other groups. There was an association between the antecedent of status epilepticus and CCA (P<.001). All patients had atrophy of the cerebral peduncle ipsilateral to the supratentorial lesion and 4 had contralateral atrophy of the middle cerebellar peduncle. The duration of epilepsy was not associated with the presence of CCA (P =.20). CONCLUSIONS: Our data suggest that in patients with epilepsy and destructive insults early in life, the extent of the supratentorial lesion as well as the antecedent of status epilepticus play a major role in the pathogenesis of CCA. Recurrent seizures do not seem to be relevant to the development of CCA.

Adolescent↗

PubMed2002

Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development.

CONTEXT: Although the causes of some malformations of cortical development (MCD) have been established, others remain unclear. There are several lines of evidence supporting the theory of a complex mechanism that involves genetic and environmental factors. OBJECTIVE: To investigate the interrelationship of genetics and prenatal injury in the genesis of MCD. PATIENTS AND DESIGN: A series of 76 consecutive patients with MCD and their families were systematically questioned about their family histories of epilepsy or other neurological impairment and the occurrence of prenatal events. Whenever possible, magnetic resonance imaging was performed in other family members if MCD was suspected or in the presence of any neurological impairment. Patients were divided into 3 groups according to the type of MCD. Patients in group 1 had focal cortical dysplasia, group 2 had heterotopias (periventricular or subcortical) or agyria-pachygyria, and group 3 had polymicrogyria or schizencephaly. These findings were also compared with a disease-control group of 40 consecutive patients with epilepsy but without MCD. SETTING: Neurology clinic of a university hospital. RESULTS: Of the 76 patients with MCD, 21 (28%) had focal cortical dysplasia, 19 (25%) had heterotopias or agyria-pachygyria, and 36 (47%) had polymicrogyria or schizencephaly. There were 39 men and 37 women, aged 2 to 52 years (mean age, 13 years). In group 2, 6 patients (32%) had a family history of MCD, mental retardation, or miscarriages, suggesting a genetic predisposition. In group 3, family history of MCD was present in 5 patients (14%). Prenatal events occurred in 28 patients with MCD (37%) and 2 controls (5%) and were more frequent in patients with heterotopia or agyria-pachygyria and polymicrogyria (P<.001). Conversely, epilepsy occurred in all patients in group 1, in 17 patients (89%) in group 2, and in 17 patients (47%) in group 3. In group 3, epilepsy was less frequent (P<.001) and also more easily controlled (P =.005) than in other forms of MCD. CONCLUSIONS: Our findings support the idea of a spectrum among the different types of MCD. Focal cortical dysplasia (group 1) is associated with more frequent and severe epilepsy and less important genetic and prenatal events, heterotopias and agyria-pachygyria (group 2) are frequently associated with genetic predisposition, and polymicrogyria and schizencephaly (group 3) are less frequently associated with epilepsy but have a stronger association with genetic and detectable prenatal events.

Adolescent↗

PubMed2002

Mesial temporal lobe abnormalities in a family with 15q26qter trisomy.

BACKGROUND: The association of chromosomal imbalances and neurologic abnormalities is well known. OBJECTIVE: To describe a family with 2 brothers presenting with 15q trisomy due to a maternal equilibrated translocation involving chromosomes 12 and 15. DESIGN, SETTING, AND PATIENTS: Among patients with epilepsy followed up in our hospital, we identified 2 brothers with epilepsy and mental retardation who presented dysmorphic features. Detailed clinical, electroencephalographic, and magnetic resonance imaging investigation was performed. In addition, we collected blood samples for karyotyping. RESULTS: Clinical findings included minor dysmorphic features, mental retardation, abnormal behavior, and secondary generalized epilepsy. Electroencephalography showed left temporal slow waves in the older brother and background abnormality associated with generalized and multifocal epileptiform discharges in the other. Their magnetic resonance images showed mesial temporal lobe malformation, including the hippocampus and parahippocampal and fusiform gyri, with abnormal shape and axis. CONCLUSIONS: To our knowledge, this is the first report of mesial temporal lobe malformation associated with chromosomal abnormalities. Our finding may contribute to the understanding of the genetic mechanisms involved in central nervous system malformations, especially in the mesial temporal lobe structures.

Adolescent↗

PubMed2002

Daytime outpatient versus inpatient video-EEG monitoring for presurgical evaluation in temporal lobe epilepsy.

Video-EEG monitoring documentation of seizure localization is one of the most important aspects of a presurgical investigation in refractory temporal lobe epilepsy (TLE) patients. The objective of this study was to evaluate the efficacy of inpatient versus daytime outpatient telemetry. The authors evaluated prospectively 73 patients with medically intractable TLE. Ninety-one telemetry sessions were performed: 35 as inpatients and 56 as outpatients. Outpatient monitoring was performed in the EEG laboratory. They used 18-channel digital EEG. Medications were not changed in the outpatient group. For analysis of the data, time was counted in periods (12 hours = 1 period). Statistical analyses were performed using Student's t-test and the chi2 test. There were no differences between the two groups (outpatient versus inpatient) with respect to age and mean seizure frequency before monitoring, mean time to record the first seizure (1.1 versus 1.4 periods), mean number of seizures per period (0.6 for both groups), lateralization by interictal spiking (46% versus 57%), and lateralization by ictal EEG (59% versus 77%). Daytime outpatient video-EEG monitoring for presurgical evaluation is efficient and comparable with inpatient monitoring. Therefore, the improved cost benefit of outpatient monitoring may increase the access to surgery for individuals with intractable TLE.

Adolescent↗

PubMed2002

Neuroimaging characteristics of pseudosubcortical laminar heterotopia.

Subcortical laminar heterotopia (SLH) is a subtype of malformation of cortical development characterized by laminar gray matter between the cortex and ventricles, which can vary in thickness and may be continuous or discontinuous. The objective of this study is to describe a normal finding of high-resolution magnetic resonance imaging that may simulate an SLH. SLH is isointense to cortex on both T1- and T2-weighted/FLAIR images, usually both anteriorly and posteriorly in location. Conversely, pseudo-SLH is a normal variant present only at the posterior aspect of the brain, and with dark signal on both T1- and T2-weighted/FLAIR images.

Brain Diseases↗

PubMed2002

Neuroimaging of acute cerebellitis.

Acute cerebellitis is one of the main causes of acute cerebellar dysfunction in childhood and may be infectious, postinfectious, or postvaccination. The etiology of acute cerebellitis is usually viral. Varicella zoster, Epsten-Barr, rubeola, pertussis, diphtheria, and coxsackie viruses are the most frequently involved agents. Diagnosing of acute cerebellitis can sometimes be difficult because the patient may present only mild cerebellar signs and the examination of cerebrospinal fluid may be normal. The authors present the clinical and neuroimaging findings of 2 patients presenting with acute cerebellitis. Their magnetic resonance imaging showed hyperintense signal of cerebellar gray matter in T2-weighted sequences, which is a strong indication of a diagnosis of acute cerebellitis.

Acute Disease↗

PubMed2002

Acute psychotic disorders induced by topiramate: report of two cases.

We report on two epileptic patients who developed acute psychosis after the use of topiramate (TPM). One patient exhibited severe psychomotor agitation, heteroaggressiveness, auditory and visual hallucinations as well as severe paranoid and mystic delusions. The other patient had psychomotor agitation, depersonalization, derealization, severe anxiety and deluded that he was losing his memory. Both patients had to be taken to the casualty room. After interruption of TPM in one patient and reduction of dose in the other, a full remission of the psychotic symptoms was obtained without the need of antipsychotic drugs. Clinicians should be aware of the possibility of development of acute psychotic symptoms in patients undergoing TPM treatment.

Acute Disease↗

PubMed2002

Rasmussen's encephalitis: the relevance of neuropsychological assessment in patient's treatment and follow up.

Rasmussen's encephalitis is characterized by refractory epilepsy, neurological deterioration and progressive atrophy of one cerebral hemisphere. The objective of this study is to describe the importance of neuropsychological evaluation in the treatment decision and follow-up of patients with Rasmusseńs encephalitis. Neuropsychological assessment was performed in two steps. Firstly, the clinical history was obtained and the Vineland adaptative behavior scale (VABS) was applied. After this first step, the patients with social maturity level equal or higher than the inferior limit underwent a battery of neuropsychological assessment. We evaluated three patients before any specific treatment was started, and six months after the intervention (surgery or plasmapheresis). Patient 1 underwent left hemispherectomy and had global improvement on second neuropsychological assessment. This suggests that the decision of performing surgery was adequate. Patients 2 and 3 underwent plasmapheresis. They did not present cognitive decline between both evaluations which suggest that our decision of postponing surgery was adequate as well. We conclude that neuropsychological assessment is important when evaluating patients with Rasmusseńs encephalitis. That is especially true for patients in whom disease progression is slow, and surgery timing has to be carefully planned.

Adaptation, Psychological↗

PubMed2002

Association of family history of epilepsy with earlier age at seizure onset in patients with focal cortical dysplasia.

OBJECTIVE: To establish the contribution of family history of epilepsy to seizure onset in patients with focal cortical dysplasia (FCD). PATIENTS AND METHODS: From January 1998 to January 2001, we prospectively evaluated 19 consecutive patients (10 male, 9 female) with a diagnosis of FCD based on magnetic resonance imaging. All patients and at least 1 family member were directly interviewed by the same observer after completion of a semistructured questionnaire. Initially, we classified patients into 2 groups: presence or absence of family history of epilepsy. Patients with a family history of epilepsy were subdivided into 2 groups: patients with a family history of epilepsy in first-degree relatives or multiple relatives (n=5) and patients with a family history of epilepsy in relatives who were not first-degree (n=4). Statistical analysis was performed with use of the nonparametric tests Kruskal-Wallis and Kaplan-Meier (survival analysis). P=.05 was considered statistically significant. RESULTS: The ages of the patients ranged from 3 to 41 years (mean, 15.6 years). All patients had similar type and extent of cortical dysgenesis. Ages at seizure onset varied from 1 month to 22 years, with a mean of 5.8 years. Nine patients had a family history of epilepsy. The mean age at the first seizure in patients with a family history of epilepsy was 2.6 years compared with 8.5 years in those with no relatives having epilepsy (P=.02). When patients with a family history of epilepsy were classified further, the mean age at first seizure was 1.9 years for patients with a family history of epilepsy in first-degree or multiple relatives and 3.9 years for patients with a family history of epilepsy in relatives who were not first-degree compared with 8.5 years for patients with no family history of epilepsy (P=.04). CONCLUSION: Our results show that a family history of epilepsy is associated with an earlier age at seizure onset in patients with FCD. Although this is a preliminary finding and a larger sample is needed to confirm these results, we believe these observations provide evidence that genetic modifiers could become an important issue in the clinical presentation of patients with dysplastic lesions.

Adolescent↗

PubMed2002

Focal cortical dysplasia: improving diagnosis and localization with magnetic resonance imaging multiplanar and curvilinear reconstruction.

OBJECTIVE: To establish the contribution of multiplanar reconstruction (MPR) and curvilinear reformatting (CR) to the MRI investigation of focal cortical dysplasia (FCD). METHODS: From a group of patients with intractable frontal lobe epilepsy, we selected patients with neuroimaging diagnosis of FCD. The diagnosis of FCD was based on the neuroimaging findings after a three step evaluation, always in the same order: (a) plain MRI films, (b) MPR, and (c) CR. After the selection of patients, the process of reviewing all the images in the three stages described above was performed by one of us, who did not take part on the selection of patients nor on the initial evaluation, and who was blind to the clinical and EEG findings of the patients. For data analysis, we first assessed the contribution of the additional findings of MPR analysis compared to the results of the evaluation using only plain MRI films, as is usually done in routine practice. Second, we assessed the contribution of CR to the findings of plain MRI films plus MPR. After completing the multistep evaluation, we all went back to review the plain MRI films with knowledge of lesion topography, in order to identify possible subtle features associated with FCD. RESULTS: Seventeen patients met the inclusion criteria. Twelve had imaging diagnosis of FCD and were included in the second step of this project. Plain films of high resolution MRI showed the lesion in 6 (50%) of the 12 patients. By adding MPR to the plain MRI films, we identified lesions in all 12 patients. Furthermore, we found that MPR provided a better lesion localization and ascertainment of its relationship to other cerebral structures in 5 of 6 (83%) patients who had a lesion identified on plain films. By adding CR to the plain MRI films plus MPR analysis, we observed that (a) CR also allowed the identification of the dysplastic lesion in all patients, (b) CR improved lesion localization in one patient, and (c) CR provided a better visualization of the lesion extent in 4 patients (33%), showed a larger lesion in 3, and demonstrated that part of the area suspected as abnormal was more likely volume averaging in 2. CONCLUSION: MPR and CR analysis add to the neuroimaging evaluation of FCD by improving the lesion diagnosis and localization. CR helps to establish the extent of the lesion more precisely, allowing the visualization of some areas not shown on high resolution MRI and MPR. These techniques are complementary and do not replace the conventional wisdom of MRI analysis.

Adolescent↗

PubMed2002

[Idiopathic generalized epilepsies misdiagnosed as partial epilepsies].

Idiopathic generalized epilepsy (IGE) is often not recognized with serious consequences on the sufferers. We examined factors contributing to the missed diagnosis of IGE in 41 adults attending our epilepsy clinic with diagnosis of partial epilepsy who had semiology or EEG findings suggesting a possible differential diagnosis. After careful re-evaluation, the diagnosis of IGE was established in 25 patients: 22 (88%) with JME, one with juvenile absence, one with perioral myoclonia with absences, one with eyelid myoclonia with typical absences. Myoclonic jerks, the hallmark of the JME and other IGE, were not usually reported by patients or misdiagnosed as focal motor seizures. Brief and infrequent absence seizures and focal EEG abnormalities were other factors contributing to not recognizing JME. All 25 patients did not achieve seizure control before re-evaluation of diagnosis. After appropriate diagnosis of IGE and change of AED to valproate or valproic acid, 19 (76%) became seizure free and six (24%) had a significant improvement on seizure control. Association with lamotrigine provided further improvement in three of these patients. An appropriate questioning to identify myoclonic and absence seizures and a proper interpretation in the context of whole clinical constellation are essential for a correct seizure classification and diagnosis of IGE in adults.

Adolescent↗

PubMed2001

Severe Amnesia in Epilepsy: Causes, Anatomopsychological Considerations, and Treatment.

Severe amnesia in epileptic patients is a catastrophic condition that may be due to different etiologies. Because of the striking findings and thorough neuropsychological studies of Patient H.M., the literature has focused on postsurgical occurrence of such memory impairment, with much less emphasis on other causes. Here we summarize, for comparison, the history of H.M. We report five patients with pronounced memory loss who had extensive neuropsychological and electroencephalographic testing. MRI was also performed in four of the patients, MRI volumetric measurements of amygdala and hippocampal formation in three, and measurements of entorhinal cortex in two. The amnesia occurred after head trauma in one patient, following encephalitis in one, after partial status epilepticus in two, and after unilateral surgical resection in a woman with bilateral lesions. On the basis of these studies it was impossible to distinguish the role of recurrent temporal lobe epileptic seizures as distinct from underlying lesions in the genesis and course of the memory loss. We review here the anatomical substrate, neuropsychological, and other investigations and the etiological factors leading to the amnesia in these patients, together with current concepts regarding possible causes of such severe memory dysfunction. In patients with this degree of severity of memory deficit, temporal resection in an attempt to control seizures did not lead to a measurable increase in memory problems. It also, however, did not bring about worthwhile improvement in seizure control.

Journal Article↗

PubMedDate not supplied

[Characterization of the linguistic profile of a family with Perisylvian Syndrome].

BACKGROUND: Perisylvian syndrome refers to a variety of clinical manifestations associated to lesions in the perisylvian or opercular regions. Polymicrogyria is the most common structural malformation found. The syndrome may be inherited and the clinical spectrum includes subtle language disturbances on one end and more severe characteristics such as prominent pseudobulbar signs and refractory epilepsy on the other end. Other studies have already associated perisylvian polymicrogyria with developmental language disorders or specific language impairment. AIM: to describe the language deficits of four members of a family with Perisylvian Syndrome, and to correlate these deficits to neuroimaging data. METHOD: The patients underwent neuroimaging investigation, psychological assessment using the Weschler Intelligence Scales, and specific speech-language evaluation. The following tests were used for the assessment of vocabulary, phonology, syntax, pragmatics, reading and writing: Thematical Pictures of Yavas, ABFW-Child Language Test, Peabody Picture Vocabulary Test (PPVT), and other specific protocols. RESULTS: Magnetic resonance imaging revealed perisylvian polymicrogyria in all of the subjects, with varied locations and extensions. Speech-language assessment indicated significant oral and written language deficits in all of the subjects. CONCLUSION: The obtained data indicate that language impairment can co-exist with reading deficits in members of the same family. Neuroimaging findings reveal cortical alterations that are associated to specific language impairments within the spectrum of the Perisylvian Syndrome. Another important aspect evidenced by this study is the similarities in the language profiles of siblings and mother, suggesting that a variety of linguistic manifestations exist within the spectrum of the syndrome. Perisylvian polymicrogyria can be one of the neurobiological malformations involved in the manifestation of these deficits.

Adolescent↗