1,720,971 research outputs found
Atypical BECTS and homocystinuria
No full textReported is an association of atypical benign childhood epilepsy with centrotemporal spikes (BECTS) and homocystinuria in three apparently healthy children with borderline intelligence, two of whom had difficult-to-control seizures. In all three, EEG were suggestive of BECTS, although the clinical features were not. Homocystinuria could not be diagnosed for several years, pending metabolic evaluation
Surgery removes EEG abnormalities in patient with Chiari type I malformation and poor CSF flow
No full textOBJECTIVE: To study the outcome of EEG from patients with Chiari I malformations and nonspecific EEG abnormalities, after posterior fossa decompression and CSF flow normalization.
METHODS: Three 'apparently asymptomatic' children who had been diagnosed with Arnold-Chiari type 1 EEG abnormalities and who exhibited (a) a wide range of abnormalities according to common anatomical Chiari MRI classifications (Elster AD, Chen MY. Chiari I malformations: clinical and radiologic reappraisal. Radiology 1992;183:347-53), (b) a lack of specific, clinical signs of increased intracranial pressure, and (c) apparently unrelated, EEG-nonspecific abnormalities (focal intermittent rhythmic delta activity (IRDA)--solely in patients 1 and 3, and with focal IRDA plus spikes and spike waves of high voltage in patient 2). Standard EEGs were recorded before surgery and within one month of surgery, which was performed in conjunction with intraoperative echo-Doppler ultrasonography to control CSF flow. Subsequent EEGs and clinical follow-ups were performed within 6-12 months of surgery.
RESULTS: In all patients, intraoperative echo-Doppler ultrasonographic control demonstrated poor CSF flow, which was completely restored by posterior fossa decompression. In all patients, the EEG abnormalities disappeared within one month of surgery and the EEGs were normal at follow-up.
CONCLUSIONS: A new CNS symptom, identified as focal IRDA alone or focal IRDA plus spikes and spike waves of high voltage in the EEG, seems to be associated with poor CSF flow in 'apparently asymptomatic' patients with Chiari type I malformations.
SIGNIFICANCE: The identified, paroxysmal EEG abnormalities should be interpreted as an indirect sign of subtle CNS distress.
PMID:16545599[PubMed - indexed for MEDLINE
Schinzel-Giedion syndrome: a further cause of West syndrome
No full textSchinzel-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
Late-onset childhood occipital epilepsy(Gastaut type): a family study
No full textLate onset childhood occipital epilepsy-Gastaut type (LOCOE) is a rare idiopathic epilepsy syndrome with an uncertain long-term prognosis. Elementary visual hallucinations and interictal spike-and-wave complexes in the occipital areas represent the main electroclinical findings of the syndrome. The functional nature of LOCOE has been emphasized together with the presence of genetic predisposition in the affected patients. Here, we report on two families in which two patients, respectively, showed electroclinical features compatible with LOCOE. Although further studies are needed to validate our observations, the involvement of two generations in one of the families we studied may corroborate the previously formulated hypothesis of an autosomal dominant model of inheritance in LOCOE. Of course, the identification of larger families is propaedeutic to linkage analysis studies
Massive lamotrigine poisoning. A case report
No full textLamotrigine (LTG) represents the most commonly prescribed of the so-called new generation antiepileptic drugs. We describe a child who was admitted to the emergency room because of generalized tonic-clonic status epilepticus followed by a complex neurological picture with hyperkinesia and acute ataxia as a result of a LTG intoxication. The experience on acute LTG intoxication is very limited in pediatrics. The present case provides information on the clinical picture related to LTG overdose and confirms that drug intoxications should be considered in the differential diagnosis strategy when severe and polymorphic neurological symptoms occur acutely
Typical absence seizures associated with localization-related epilepsy: a clinical and electroencephalographic characterization
No full textINTRODUCTION:
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
Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations. A review
No full textEpilepsy 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 epileps
Myoclonic ecephalopathy in the CDKL5 gene mutation
No full textAbstract
OBJECTIVE: Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. The purpose of this study was to analyze the epileptic histories and EEGs of patients with the CDKL5 mutation.
METHODS: We reviewed the epilepsy histories and electroclinical analyses of three girls aged 9.5, 7.4, and 9.4 years, each with a mutation of the CDKL5 gene.
RESULTS: We revealed the presence of an encephalopathy that started by 1.5 months of age. At first, seizures involved tonic spasms or complex partial seizures, and were complicated by the later appearance of complex partial, tonic, and unexpectedly, myoclonic seizures. This form of epilepsy was drug resistant. Routine and prolonged video EEGs both displayed a homogeneous electroclinical pattern consisting of (a) unique background with diffuse high voltage sharp waves of 6-7 Hz, and absence of the typical rhythmic frontal-central theta activity present in Rett syndrome; (b) unique awake and sleep background, with diffuse, high voltage, continuous sharp waves with multifocal and diffuse spikes; (c) rhythmic, diffuse, 15 Hz activity accompanied clinically by tonic seizures; (d) intercritical pattern with pseudoperiodic, diffuse, sharp waves or pseudoperiodic, diffuse spike and polyspike or wave discharges; and (e) diffuse, spike, polyspike and wave discharges accompanied by massive or focal myoclonias or both.
CONCLUSIONS: Patients with the CDKL5 mutation have an early onset, epileptic encephalopathy in infancy that evolves into myoclonic seizures in childhood with a unique EEG pattern.
SIGNIFICANCE: Recognizing this type of encephalopathy could be useful in prompting clinicians to proceed further with their diagnostic work in patients not fitting the criteria of classical Rett syndrome.
PMID:16326141[PubMed - indexed for MEDLINE
Photoparoxysmal responses in children with chromosomal aberrations
No full textAbstract
Electroencephalographic (EEG) anomalies and epilepsy are commonly observed in the clinical picture of patients with chromosomal aberrations. However, no investigations have been performed on the relationship between chromosomal disorders and photoparoxysmal response (PPR). In this study, we evaluate the characteristics of PPRs elicited with intermittent photic stimulation during a routine electroencephalogram in children affected by chromosomal anomalies and correlated this with the clinical profile of the child. A review of the literature has also been performed. PPRs occurred in 14% (4/28) of patients. PPRs were brief
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