Siblings with cystic leukoencephalopathy and megalencephaly.

Cystic leukoencephalopathy with megalencephaly is a newly described entity with mild clinical involvement. Patients suffer from developmental problems and seizures in childhood. Progression is gradual into adulthood. Typical magnetic resonance imaging findings include subcortical cysts and diffuse leukoencephalopathy. The etiology is unknown with possibly autosomal-recessive inheritance. We present two pairs of siblings with this disease and emphasize the characteristic and variable patterns even within the same family.

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.

Benign rolandic epilepsy: neuropsychological findings.

Benign rolandic epilepsy (BRE) is a partial idiopathic epilepsy of childhood presenting with a nocturnal seizure and with a typical EEG showing centrotemporal spike and multifocal or generalized sharp slow waves. Although normal neurological and intellectual development are expected in BRE, it is not infrequent to detect subtle defects in neuropsychological functions and neuromotor development. This study included 20 cases of BRE diagnosed according to the criteria of ILAE. The patients underwent several tests of neuropsychological functions as well as detailed neurological examination and the results were compared statistically to normal controls. In the patient group, a family history of language delay or learning disability (P < 0.005), presence of consanguinity (P < 0. 05), dyspraxia in the lower extremities (to imitation) (P < 0.05), difficulties in go-no-go test (P < 0.001), as well as some problems related to language such as dysprosody (P = 0.05), minor motor deficits in the left (P < 0.05) and right upper extremity (P < 0.05) were significantly more frequent compared to the control group. One should be rather guarded against the prognosis in BRE with respect to the higher cortical functions and neurodevelopmental problems.

Variations of IL2, IL6, TNF alpha plasmatic levels in relapsing remitting multiple sclerosis.

We performed a longitudinal analysis of serum IL2, IL6 and TNF alpha concentrations in 40 relapsing remitting MS patients and 20 healthy subjects. Disease activity was quantified by Minimal Record of Disease (M.R.D.) for MS, every 2 or 3 months. IL2, IL6 TNF alpha production was analysed without and with PHA stimulation of whole blood for 2 hours at 37 degrees C. No significant change in IL2 level was found in MS serum. Individual TNF alpha production was significantly increased (P < 0.007) during relapses. The global spontaneous IL6 production was markedly higher in the relapse group than in the control group (P < 0.01) and than in the remission group (P < 0.002) without significant individual variations of cytokine levels regarding the disease activity. Productions of cytokines were enhanced by PHA stimulation, a condition that however suppressed the differences observed without mitogen stimulation. Our data suggest that TNF alpha could be a marker for relapses while IL6 might reflect the global activity of the immune system in MS.