Dysembryoplastic neuroepithelial tumour (DNT) is a newly recognized brain mass lesion with distinctive pathological features and a favourable prognosis. We reviewed the clinical, electroencephalographic, neuroimaging and pathological features of 16 patients with DNT who underwent surgery; only one patient did not have epilepsy. Mean age at seizure onset was 9.5 years (range: 1 week to 30 years) and surgery 17 years (range: 7 months to 37 years). The mean verbal IQ was 94.6 (range: 79-110) and performance IQ 105 (range: 79-130) (n = 10). The EEG was abnormal in all cases reviewed (n = 13): localized slow activity was seen in 12 and interictal spiking in 10 patients, being less extensive than or concordant with the lesion in three and more extensive than or distant to the lesion in seven. X-ray CT was normal in three out of 11 patients. Magnetic resonance imaging provided detailed anatomical information: the lesion was predominantly intracortical, although in six patients, there was also white matter involvement. The lesion involved the temporal lobe in all but one patient where it was in the cingulate gyrus. Of the temporal lobe cases, MRI showed that the lesion involved, or was in close proximity to, mesial temporal structures in 11 out of 14 patients. Other magnetic resonance features included: circumscribed hyperintensity on long TE/TR images (10 patients), hypointensity on short TR images (12 patients), and cyst formation (five patients). Calcification was seen on CT in four patients. Post surgical follow-up ranged from 8 to 30 months (mean 16.2 months): 12 patients are seizure free and two have a > 80% reduction in seizure frequency (n = 14). Histopathological characteristics included a heterogeneous composition in all cases, calcification (13 cases), dysplastic features (12 cases) and isolated foci of subpial spread (five cases). The presence of occasional mitoses in 12 cases and immunoreactivity to the proliferating cell nuclear antigen in six cases indicate that these lesions have cellular proliferative activity and that there may be a need to follow these patients postoperatively.
Chronic encephalitis and epilepsy (Rasmussen's encephalitis) is a rare progressive disorder of uncertain etiology that usually occurs in children, producing focal epilepsy, hemiparesis, and intellectual deterioration. We identified 13 patients in whom seizures developed in adolescence or adulthood with a pathologic picture of chronic encephalitis. The clinical characteristics were more variable than those occurring in children, with the patients falling into three groups: five patients developed seizures in adulthood, but otherwise showed many resemblances to the childhood form; five developed seizures in adolescence, with similar presentation but rather more benign course than in the younger patients; and three presented with clinical features initially suggestive of a tumor. Occipital onset to the seizures appeared to be more common than in the childhood form, and bilateral disease also occurred.
In this article we describe the neuropathological changes in three patients with neuroacanthocytosis and review the neuropathology of the other eight cases reported in the literature. Macroscopically the brains showed enlargement of the lateral ventricles, especially the frontal horns. The most severely and consistently affected brain areas were the caudate nucleus and putamen, which were atrophic and showed by light microscopy marked neuronal loss and gliosis. Small and medium-sized striatal neurons were particularly depleted. The globus pallidus was almost as severely involved as the striatum. In some cases the thalamus, substantia nigra, and anterior horns of the spinal cord showed pathology, mainly neuronal loss and mild gliosis. Brain areas with no pathology included the subthalamic nucleus, cerebral cortex, cerebellum, pons, and medulla. The preservation of these areas may help in the neuropathological distinction of neuroacanthocytosis from Huntington's disease.
Two unrelated and previously healthy girls, aged 17 and 18, presented with a subacute encephalopathy, visual and sensory symptoms and signs, and prominent seizures that were difficult to control. Brain MRI showed lesions (high signal on T2 weighted images) in the occipital lobes and thalamus; EEG showed slow wave activity with superimposed polyspikes. Inexorable downhill progression led to death in hepatic failure within eight months of onset. Histopathological findings in both patients ((a) chronic hepatitis with prominent bile duct proliferation, fatty change, and fibrosis; (b) This young woman, who was entirely normal until 18 years of age, suddenly saw flashing lights and had impaired vision in both upper visual fields. The teichopsia resolved after three days but blurred vision persisted and she complained of headache. Next day she had a generalised seizure: examination showed pendular nystagmus and left homonymous hemianopia, but no other abnormal findings. Routine haematological and biochemical investigations including liver function tests, brain CT, carotid angiography and CSF examination were normal. An EEG showed almost continuous polymorphic slow waves (2/s) and polyspikes over the posterior part of the hemisphere (fig 1). She was treated with carbamazepine; her alanine aminotransferase was marginally increased on this, but bilirubin and alkaline phosphatase were normal. She then started to have frequent focal seizures, with clonic jerking of the left arm and deviation of the eyes to the left. Positive visual symptoms recurred. The EEG had deteriorated with polyspike and slow wave activity now over the left hemisphere, although the right sided predominance of the abnormality persisted. Repeat CT showed an ill defined low density lesion in the right occipital lobe, mainly involving white matter. Brain MRI showed increased signal in the medial temporal and occipital lobes on the right on T2 weighted images. She then developed multifocal myoclonus and a left lateral gaze palsy. Three weeks after admission she had five generalised seizures, and one week later continuous left sided jerking with confusion and drowsiness. There was cervical lymphadenopathy. She developed a left hemiparesis; plantar responses were extensor. A further CT was normal, but MRI showed bilateral areas of high signal in the occipital lobes and thalamus (fig 2). Pattern visual evoked potentials were of normal latency, but asymmetric, with smaller responses over the right hemisphere. Sensory nerve action potentials were reduced in amplitude. She was treated with intravenous acyclovir. Routine blood investigations and repeat CSF examination remained normal; blood and CSF viral titres were normal. Her seizures did not respond to intravenous phenytoin or chlormethiazole, but were partly suppressed by phenobarbitone and carbamazepine.She made a partial recovery, with resolution of her field defect to a left lower 320 on 11 May 2018 by guest. Protected by copyright.
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