Electroencephalography, Doppler vascular scanning, and single photon emission computed tomography in a child with hydranencephaly and intractable seizures.

In a child with hydranencephaly and refractory seizures, the electroencephalogram showed a flat isoelectric pattern with no significant slow waves or epileptiform activity; cranial computed tomography, magnetic resonance imaging, Doppler vascular scanning, and single photon emission computed tomography (SPECT) were done to define the pathogenesis of the seizures. The investigations were suggestive of a lack of significant cortical, subcortical, or thalamic structures with hypoplasia of the vermis and cerebellum. SPECT showed little activity in the base of the brain and cerebellum. The cause of the seizures remained unclear in spite of the investigations.

Antenatal imaging of a near-term fetus with primary acalvaria.

We report a near-term fetus with primary acalvaria, an extremely rare malformation characterized by the complete absence of the membranous neurocranium. Sonographic findings were considered consistent with this condition, which was confirmed by magnetic resonance imaging. Spontaneous vaginal delivery resulted in a fresh stillbirth, with an intact cranial sac.

Bilateral symmetrical frontoparietal polymicrogyria.

A patient with bilateral symmetrical frontoparietal polymicrogyria is reported. Severe developmental delay, mental retardation, spastic tetraplegia, and seizures were the main clinical features. Magnetic resonance imaging revealed bilateral thick cortex with irregular gyri and festoon-like grey-white matter junction in the frontoparietal areas. Bilateral frontoparietal polymicrogyria might represent either a severe form of a spectrum of malformations involving the frontoparietal area or a further variety of the congenital bilateral symmetrical polymicrogyria syndromes in addition to bilateral frontal polymicrogyria, bilateral perisylvian syndrome, and bilateral parasagittal parieto-occipital polymicrogyria.

L-2-hydroxyglutaric aciduria in two siblings.

Two Pakistani siblings with L-2-hydroxyglutaric aciduria are reported herein. A 6-year-old male and a 2-year-old female, born to consanguineous parents, had chronic slowly progressive neurodegenerative disorder with insidious onset after infancy. Mental regression and seizures were evident in both patients, whereas cerebellar dysfunction was the main motor handicap in the male and pyramidal symptoms were prominent in the female. Magnetic resonance imaging revealed bilateral symmetrical abnormal signal in the subcortical white matter, internal and external capsules, basal ganglia, and dentate nuclei. The underlying metabolic defect, which is likely inherited in an autosomal recessive mode, remains unknown in this disorder.

Temporal lobe epilepsy in children: etiology in a cohort with new-onset seizures.

PURPOSE: The aim of this study was to characterize the incidence and etiology of temporal lobe epilepsy (TLE) in a community-based cohort of children with new-onset disease. METHODS: A community-based cohort of 30 children with TLE was studied. The patients had new-onset disease before age 14 years between 1995 and 1999. They underwent clinical, EEG, and magnetic resonance imaging investigations. RESULTS: The patients could be divided in three main groups according to likely etiology, as suggested by Harvey et al. (Neurology 1997;49:960-8). Group 1 consisted of eight (26.7%) children with malformations or long-standing, nonprogressive tumors (developmental TLE). Arachnoid cysts were found in three, dual pathology [cortical dysplasia and hippocampal sclerosis (HS)] in one, and focal cortical dysplasia with glioproliferative changes in one patient. Dysembryoplastic neuroepithelial tumor was responsible for the epilepsy in one, and ganglioglioma, in two children. Group 2 consisted of seven (23.3%) children with a significant antecedent and/or HS. Five children had a significant illness or event before the onset of TLE, including perinatal hypoxic-ischemic encephalopathy in one, encephalitis in one, traumatic brain injury in two, and complex febrile seizures in one. HS was found in the patients with traumatic brain injury and complex febrile seizures in the history in addition to two children without known antecedents. Group 3 comprised 15 (50%) children with no abnormality on neuroimaging and no significant antecedents (cryptogenic TLE). CONCLUSIONS: Etiologic differences between children with new-onset TLE may have prognostic implications: children with TLE and significant antecedents/HS are expected to have the greatest risk of continued seizures and psychological problems.