Rosanna Maria Di Bartolo

Childhood absence epilepsy: evolution and prognostic factors.

Summary:  Purpose: To evaluate how diagnostic criteria influence remission rates for patients with childhood absence epilepsy (CAE) and to assess clinical and EEG parameters as predictors of outcome.

Celiac disease and epilepsy in pediatric patients

Among 783 patients referred to our institute with different types of seizures as presenting symptom, systematic evaluation of antigliadin and antiendomysial antibodies in the serum has identified nine in whom jejunal biopsy has subsequently confirmed the diagnosis of celiac disease (CD). In three of them brain imaging showed the presence of calcified areas in the occipital region. They had complex partial seizures (CPS), associated in two with transient episodes of blindness. In another patient with CPS and generalized tonic-clonic seizures (GTCS) progressive multifocal cerebral calcifications were noted. In the other six patients with CPS and/or GTCS cerebral calcifications were absent. Symptoms of CD in all these cases were either not previously taken into account, or they were very mild or completely absent. In a group of 36 patients with clinically manifest CD, regular follow-up, and good compliance with the dietary regimen, no clinical seizures were reported. The pathogenetic mechanism and the relationship between epilepsy and an early diagnosis and treatment of celiac disease are discussed.

Epilepsy in Neurofibromatosis 1

Neurofibromatosis 1 is the most common neurocutaneous disease. Neurologic manifestations are mainly represented by tumors such as optic gliomas, focal areas of high T2-weighted signal known as unidentified bright objects, and mental retardation or learning disabilities. The prevalence of seizures has been reported to range from 3.8 to 6%. In the present study, we evaluated prevalence, type, and etiology of epilepsy in a neurofibromatosis 1 population. A retrospective analysis of 198 patients affected by neurofibromatosis 1 was performed. Fourteen patients (7%) were found to be epileptic. Every patient underwent electroencephalographic examination and neuroimaging investigations. Thirteen were submitted to magnetic resonance imaging (MRI) study and one to computed tomographic (CT) scanning. Single-photon emission computed tomographic and positron emission tomographic studies were performed in a few selected cases. Seizures were partial in 12 of these (85%) and generalized in 2 (15%). In nine (64%), epilepsy was secondary to brain lesions: five of these had cerebral tumors (three with epilepsy as the first symptom), three had cortical malformation, and one had mesial temporal sclerosis. Seizures were controlled rapidly in eight (57%) and drug resistant in four (29%). Two patients were lost at follow-up. All patients with uncontrolled seizures had severe mental retardation, and three of these had malformations of cortical development. Our observations and our re-evaluation of the literature indicate that patients with neurofibromatosis 1 have an increased risk of epilepsy related to intracranial masses and cytoarchitectural abnormalities, and seizures can represent the first symptom of a tumor or cortical malformation. Brain MRI and, in selected cases, functional studies appear to be useful in patients with neurofibromatosis 1 who present with seizures, especially if associated with mental retardation. (J Child Neurol 2003;18:338—342).

Association of Chiari I Malformation, Mental Retardation, Speech Delay, and Epilepsy: A Specific Disorder?

OBJECTIVEThe Chiari I malformation is defined as tonsillar herniation of at least 3 to 5 mm below the foramen magnum. Although Chiari I malformation is considered to derive from a mesodermal disorder resulting in underdevelopment of the posterior fossa relative to its content, evidence for a possible heterogeneous etiology also has been reported. The aim of the present study is to elucidate the relationship between Chiari I malformation and mental retardation, speech delay, and epilepsy to consider a possible specific pathogenetic background. METHODSThirty-five patients with Chiari I malformations were identified by use of magnetic resonance imaging during a period between 1993 and 1999. The study consisted of nine patients (four boys and five girls) who were affected by mental retardation, speech delay, and epilepsy. All patients underwent electroencephalography and brain and cervical spine magnetic resonance imaging. RESULTSAll patients were mentally retarded with a mean intelligence quotient of 50. Seven patients had a positive history for speech delay, and five were epileptic. Electroencephalograms demonstrated abnormalities in seven patients. The mean tonsillar displacement was 10.1 mm. A thin corpus callosum and a wide cavum septum pellucidum were present in three patients. Neither hydromyelia nor scoliosis was observed. No correlation between the degree of the ectopia and clinical manifestation was noted. CONCLUSIONThe association of Chiari I malformation with epilepsy, speech delay, and mental retardation may not be a mere incidental finding but may be a marker for a different pathogenetic background.

Electroencephalographic and epileptic patterns in X chromosome anomalies.

Although epilepsy and mental retardation are commonly observed in individuals with chromosomal aberrations, the identification of EEG/epileptic profiles in those with specific chromosome anomalies remains difficult. A few syndromes seem to show peculiar clinical and EEG associations. The authors report an electroclinical investigation on a group of patients carrying X chromosome anomalies: 16 patients with Turners syndrome, 17 with Klinefelters syndrome, 1 with an X–autosomal rearrangement, 2 with Xq isochromosome [Xq(i)], and 7 with triple X syndrome. Epilepsy and/or EEG anomalies were found in three of the patients with Klinefelters syndrome, in one patient with an X–autosomal rearrangement, and in five of those with triple X syndrome. No epilepsy or EEG anomalies were detected in the other patients. Epilepsy may be associated with Klinefelters syndrome. In addition, the authors found that an electroclinical pattern, represented by paroxysmal activity in the posterior regions (temporo-parieto-occipital areas) with complex partial seizures and easily controlled by antiepileptic drugs, may be present in patients with triple X syndrome. In contrast, gross X–autosomal rearrangements are associated with polymorphic EEG/epileptic findings. Although further studies are needed to validate these observations, they clearly confirm the strict relationship between X chromosome anomalies and epilepsy.

Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations. A review.

UNLABELLED Epilepsy and electroencephalographic (EEG) anomalies are common in subjects carrying chromosomal aberrations. We report clinical and EEG investigations on 13 patients carrying chromosome 2 anomalies, including two patients with inversions, six with translocations, two with partial duplications and three with interstitial deletion syndromes. Epilepsy and/or EEG anomalies were found in one patient with a chromosome 2 translocation, in both of those carrying partial duplications and in all three with interstitial deletion syndromes. No epilepsy or EEG anomalies were detected in the remaining patients. CONCLUSIONS Epilepsy may be associated with chromosome 2 aberrations. Gross rearrangements involving the long arm of chromosome 2 might be more often associated with epilepsy than those involving the short arm. The association of epilepsy with chromosome 2 duplications is less clear. In particular, our observations and a review of the literature appear to suggest that a strict relationship between epilepsy and interstitial deletions involving the 2q24-q31 region. In the latter disorder tonic and focal seizures occur early in life. Generalized and focal myoclonic jerks tend to appear in infancy and are subsequently followed by seizures mixed in type. Seizures usually persist up to late childhood and are drug resistant. Further studies are necessary to better define the electroclinical patterns of patients carrying deletions in 2q24-q31. These may help to direct systematic study of this--probably underestimated--cause of severe epilepsy.

Schinzel–Giedion syndrome: a further cause of West syndrome

Schinzel-Giedion syndrome (SGS) is a rare disorder with a likely autosomal recessive pattern of inheritance which is characterized by several facial dysmorphisms, midface hypoplasia, multiple skeletal anomalies including short and sclerotic skull base, short neck, and post-axial polydactyly. Cardiac and urogenital malformations are also present. Thirty-three cases have been described so far. We report on a boy affected by SGS in whom a long-term EEG follow-up showed a progressive deterioration of the background bioelectric activity ending, at the age of 19 months, with a hypsarrhythmic pattern clinically correlated with severe and refractory infantile spasms. EEG deterioration and neuroradiological findings, which showed progressive brain atrophy, confirm the neurodegenerative nature of SGS. We also re-evaluated all the published cases and found that 33% of patients with SGS experienced neonatal seizures and another 25% developed West syndrome in the following months. The seizures appeared extremely refractory to several anticonvulsive treatments. In conclusion, we believe that SGS should be included among the causes of secondary West syndrome.

Epilepsy and Electroencephalographic Findings in Pericentric Inversion of Chromosome 12

Epilepsy, together with mental retardation, represents a common manifestation of chromosomal aberrations. Specific electroencephalographic (EEG) and epileptic patterns have been described in several chromosomal disorders, such as Angelmans syndrome, Miller-Dieker syndrome, Wolf-Hirschhorn syndrome, and ring 20 syndrome. A peculiar electroclinical pattern has also been identified in trisomy 12p syndrome. We report three patients with a pericentric inversion of chromosome 12, with breakpoints localized to p11-q13 and affected by epilepsy or EEG anomalies. Two suffered from epilepsy, which, in the clinical course, was mainly characterized by complex partial seizures with a semiology related to the temporal lobe. In one patient, myoclonic absences, head drop, and massive jerky attacks were also present. In both patients, generalized 3 Hz bursts were registered, together with multifocal and focal paroxysmal activity, which were most prominent in the temporoparietal and temporal areas, respectively. In the other patient, who had no epilepsy, EEG showed bioccipital paroxysmal activity. In all patients, the clinical picture was characterized by the presence of moderate mental retardation and behavioral disorders. The incidence of epilepsy or EEG anomalies among patients with a pericentric inversion of chromosome 12 remains to be ascertained. However, the present study confirms that chromosome 12 anomalies can be associated with epilepsy. Although myoclonic absence-like episodes can occasionally be part of the epileptic phenotype, the electroclinical pattern in pericentric inversion of chromosome 12 seems to be more polymorphic when compared with that observed in trisomy 12p syndrome. (J Child Neurol 2004;19:604-608).

Segregation analysis in typical absence epilepsy .

mental confusion.7 Only rarely autonomic symptoms with changes in skin color, sweating, increased salivation or dilatation of pupils can be present.6 Absence epilepsy must be distinguished from &dquo;absences&dquo; due to complex partial seizures. Separation of absence seizures from complex partial seizure is relatively easy, however, the problem becomes more complicated when typical absence seizures are to be distinguished from other types of absences. Juvenile myoclonic epilepsy,g~9 benign childhood myoclonic epilepsy, and eyelid myoclonias with absences’0,11 I

Typical absence seizures associated with localization-related epilepsy: A clinical and electroencephalographic characterization

INTRODUCTION This paper describes the characteristics of patients with typical absence seizures associated with localization related epilepsy (LRE) and compares electroclinical features of absences occurring in these patients with those having childhood absence epilepsy (CAE). METHODS Consecutive patients presenting with both LRE and typical absences in their epilepsy history were included in the study (Group 1). Clinical assessments and EEG investigations were conducted during the follow-up. Patients observed during the same period, but with typical absences fulfilling the CAE diagnostic criteria, were assigned to a second group (Group 2). RESULTS Fourteen patients were included in Group 1. These patients had a mean age at their last visit of 11.3 years (range 7.2-16.8), with a mean follow-up period of 6.8 years. In all patients LRE was the first type of seizure to occur at median age of 4.95+/-2.1 years (range 1.9-8.8). Typical absences appeared at median age of 7.5+/-2.5 years (range 4.5-12.5), and were well controlled by therapy. Ictal EEG and semiology features of typical absences did not show any distinctive features when compared to those of Group 2 represented by 53 patients affected by CAE. However, age at onset was significantly higher in Group 1, as was the number of patients who underwent polytherapy, and the number with relapses after drug discontinuation. None of patients in Group 1 showed terminal remission. CONCLUSION Although clinically heterogeneous and rare, the association of LRE with typical absences may be more than coincidental. In these patients, typical absences responded well to therapy, but terminal remission rates were lower than for CAE patients.