Seizures during treatment of Vitamin B12 deficiency.

Epileptic seizures during infancy have a wide variety of clinical presentations and the outcome differs according to the etiology. Among the benign and rare causes of infantile seizures, Vitamin B12 deficiency has been encountered. Common symptoms of Vitamin B12 deficiency in infants include megaloblastic anemia, feeding difficulties, developmental delay, microcephaly, failure to thrive, hypotonia, lethargy, irritability, involuntary movements, seizures and cerebral atrophy. Involuntary movements and seizures may rarely be the initial symptoms of Vitamin B12 deficiency. Involuntary movements have also been reported to appear after initiation of Vitamin B12 supplementation in isolated cases, whereas, no such information exits for seizures. In this paper, three infants with Vitamin B12 deficiency associated with motor and mental retardation are reported because of long-lasting focal/multifocal epileptic seizures following the initiation of intramuscular Vitamin B12 treatment. Antiepileptics were introduced in addition to Vitamin B12. Seizures disappeared within a few days or weeks; electroencephalographic findings were normalized in a few months. No relapses occurred during the follow-up period.

Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency.

OBJECTIVE: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a neurometabolic disorder characterized by excessive GABA levels and seizures. There has been no clinical phenotype described to date with heterozygosity for SSADH deficiency. METHODS: A patient heterozygous for SSADH deficiency presented with absence and myoclonic seizures. EEG monitoring and enzymatic, metabolic, and molecular studies for SSADH were obtained on the patient and family members. RESULTS: EEG recordings yielded generalized 3-4 Hz spike-wave paroxysms and trains of multiple spikes in the heterozygous patient, and photosensitivity in the heterozygous patient and parent as well as in the sibling with homozygous deficiency. The heterozygous patient and parents did not manifest 4-OH-butyric aciduria but SSADH levels were low and a splice site mutation of the SSADH gene was identified in each. CONCLUSIONS: Heterozygosity for SSADH deficiency may be associated with an epilepsy syndrome characterized by absence and myoclonic seizures, photoparoxysmal EEG and generalized epileptiform discharges SIGNIFICANCE: Heterozygous SSADH deficiency may be suspected, given an appropriate family history in the setting of an apparently idiopathic generalized epilepsy. Pathogenic explanations may relate to regional elevations in GABA or GHB concentrations.

Hot water epilepsy: clinical and electrophysiologic findings based on 21 cases.

PURPOSE: Our aim is to outline the clinical and electroencephalographic (EEG) features of patients with hot water epilepsy (HWE), a rare and unique form of reflex epilepsy. METHODS: Twenty-one patients with HWE, seen in our clinic until 1999, were studied. Male outnumbered female subjects in a ratio of 3:1. The age at the onset of seizures ranged from 19 months to 27 years (mean age at onset, 12 years). RESULTS: The main factors precipitating seizures were bathing with hot water and/or pouring water over the head. Six patients reported self-induction, either by increasing the heat or the amount of water and/or recalling earlier bathing experiences. Nine patients expressed feeling pleasure during the seizures. Twenty patients had partial seizures, eight of whom also had secondarily generalized seizures. One patient had apparent generalized seizures only. Spontaneous seizures were present in 62% of the cases. Interictal epileptogenic abnormalities were documented in the EEGs of eight patients; the other eight had normal EEGs. The major sites of epileptogenic activity were over the unilateral temporal regions (in 40% of patients). Neuroimaging studies available for 12 patients (four cranial computed tomography and eight cranial magnetic resonance imaging scans) revealed normal findings. Seizure control in patients who were followed up was achieved by reducing the temperature or the duration of the bath or shower; several of the patients required medication. CONCLUSIONS: The major findings of this study are that HWE has a male preponderance, can be self-induced, is often done for pleasure, has complex triggering factors, and shows temporally located abnormalities in the EEGs. Although HWE is generally known to be self-limited, antiepileptic drug treatment may sometimes be necessary to control seizures. Hot water epilepsy should be classified separately among the epileptic syndromes.

Surgical outcome of epilepsy patients evaluated with a noninvasive protocol.

Surgery is now an accepted treatment for some medically intractable epilepsies. Presurgical evaluation is particularly important for the localization of the epileptogenic zone, which may necessitate sophisticated imaging techniques and intracranial electroencephalogram (EEG) recordings. If patients are carefully selected, however, successful results can be achieved with noninvasive evaluation methods. Seventy-seven patients were operated on for intractable seizures. All patients underwent EEG, neuropsychological, psychiatric, and magnetic resonance imaging investigations. Ictal EEG-video recording was performed in all nonlesional and in some lesional cases that had discordant data. Selective amygdalo-hippocampectomy was performed on patients with mesial temporal lobe epilepsy (MTLE), an extended or a limited lesionectomy was performed on patients with structural lesions, and a lesionectomy with deafferentation was performed on two patients with West syndrome. Electrocorticography was not used. Temporal lobe directed surgery was performed in 63.6% of the cases. The pathological examinations of all cases showed hippocampal sclerosis (HS) in 43%, tumor or tumor-like lesions in 36%, and cortical dysplasia in 5% of patients. After a mean follow-up of 17 months (range, 2-53), 75% of the patients were seizure-free with or without aura and 15% had a marked improvement, whereas 10% did not benefit from surgery. Neuropsychological outcome of patients with MTLE and HS also showed worthwhile results. Our patients, who were evaluated without pre- and perioperative intracranial recordings and other sophisticated techniques, had an outcome comparable to those in other series from more experienced centers. Our experience indicates that successful results, especially for patients with MTLE-HS and lesion-related epilepsies, can be obtained at centers with limited resources if the diagnoses and evaluation procedures are performed carefully.

Ictal and interictal SPECT findings in childhood absence epilepsy.

The purpose of this study was to investigate the informative value of single photon emission tomography (SPECT) in relation to the pathophysiological functioning of the brain during absence seizures and the origin of ictal discharges in idiopathic generalized epilepsies (IGEs). Six patients with childhood absence epilepsy (CAE) were selected for the study and two consecutive SPECT sessions were performed concomitant with EEG recordings revealing normal results and during hyperventilation (HV) studies where the ictal discharges were induced either alone or accompanied by clinical absence seizures. All six patients had ictal discharges in their EEGs during HV and two of them also had clinical absences. SPECT findings during HV revealed an overall increase in the cerebral blood flow (CBF) with significantly higher values as compared to the baseline data. There was no indication for any focal origin in either the interictal or the ictal SPECT findings. Results of the study were supportive for the concept of subcortical origin for the absence seizures and they were also promising for the diagnostic value of ictal SPECT in epileptic cases with undetermined origin as to whether they were localization-related or generalized.

A study on visual evoked responses in childhood epilepsy with occipital paroxysms.

As some apparently idiopatic epilepsies may occasionally pose diagnostic difficulties in regard to their precise status of etiology, evoked potentials, particularly visual evoked potential (VEP), may contribute to the diagnosis of childhood epilepsy with occipital paroxysms (CEOP) as a subsidiary method of evaluation. This study includes 19 children (10 boys 52.6%; 9 girls 47.4%) ranging in age from 5 to 17 years (mean SD = 9.68 3.28) suffering from CEOP and a control group of 30 normal children, matched for chronological age and sex. Peak amplitudes and latencies of the P100 component for pattern-shift VEP (PVEP) and of major positivity for flash VEP (FVEP) are measured, respectively. The results from this study demonstrate that amplitude and latency values in patients with CEOP differs insignificantly when compared with controls. Although, non-significantly, mean values of amplitudes for both PVEP and FVEP were higher in the patients than in the normal children, whereas latencies in FVEP were somewhat longer. There may be some tendency for the amplitudes to increase and the latencies to be delayed in VEPs in patients with CEOP, when an overall interpretation of our and similar studies are considered. In certain cases of diagnostic difficulty, VEP values may provide further information for the clinician, regarding either a symptomatic or an idiopathic nature of the underlying disorder.

Neuropsychological functions in idiopathic occipital lobe epilepsy.

PURPOSE: Despite the benign prognoses of idiopathic partial epilepsies, particularly regarding the response of seizures to treatment, some evidence now exists that patients with such disorders may have subtle neuropsychological deficits. This study was designed to investigate several modalities of neuropsychological functioning in a group of 21 patients, ranging from 6 to 14 years of age, with idiopathic occipital lobe epilepsy (IOLE). The case patients were compared with 21 healthy controls matched for age, sex, and socioeconomic status. METHODS: A battery of age-appropriate neuropsychological tests was administered individually to all the participants. Tests were chosen on the basis of age-appropriate norms, their ability to represent a wide variety of functional domains, and their appropriateness in a cross-cultural setting. The tests were selected to measure functioning in six domains: intellectual functioning, attention, memory, academic achievement, visual-motor functioning, and executive functioning; some were further subdivided by their verbal-versus-visual modality of functioning. RESULTS: The results revealed no significant difference in basic neurophysiological functions between the patient and control groups, although the case patients' performance scores were lower in attention (p < 0.01) and memory (p < 0.01), as well as in intellectual functioning (p <.05). CONCLUSIONS: The possibility of subtle cognitive deficits in IOLE patients should always be considered, though further studies are necessary to elaborate their precise and long-term effects.