1/8. Clinical and video-polygraphic features of epileptic spasms in adults with cortical migration disorder.The International classification of Epileptic Syndromes considers epileptic spasms to be typical seizures of West syndrome. literature reports show that spasms are present in epileptic syndromes other than West syndrome but there are few data on their characteristics in adults. We describe ictal, clinical and video-polygraphic findings in three patients (aged 21, 32 and 57 years) with epileptic spasms and with diffuse (case 2), focal right fronto-parietal (case 1) and bi-opercular (case 3) pachygyria. Spasms had been present since the ages of 1 month, 11 and 27 years respectively. Only one patient is mentally retarded. Two of our patients (cases 2 and 3) have partial seizures. Ictal polygraphic studies showed a positive, diffuse, high amplitude slow wave activity during spasms, with superimposed fast activity, followed by a diffuse flattening in all cases with a typical muscle pattern. Epileptic spasms, as typically described in West syndrome, can maintain the same semeiological and electroencephalographic features during adulthood in certain patients with cortical dysplasia.- - - - - - - - - - ranking = 1keywords = pachygyria (Clic here for more details about this article) |
2/8. Total callosotomy for a case of lissencephaly presenting with West syndrome and generalized seizures.CASE REPORT: An 11-month-old girl had an onset of oculogyric crisis at 2 months and she presented with epileptic spasms and generalized tonic seizures with series formation at 3 months. Her seizures were medically intractable and her development had gradually regressed after that. MRI showed severe lissencephaly in bilateral hemispheres. Interictal EEG showed hypsarrhythmia periodically and sporadic spike waves in the right hemisphere. The generalized tonic seizures began with bi-frontal polyspikes on EEG. Our diagnosis was lissencephaly presenting with West syndrome and generalized tonic seizures. A total callosotomy was performed at 11 months.OUTCOME: Postoperative frequency of seizures decreased prominently and developmental progression was resumed.CONCLUSIONS: This case showed that the corpus callosum may play an important role in some types of symptomatic West syndrome. Corpus callosotomy for treating symptomatic West syndrome should be considered as an option after careful selection and consideration of the timing of surgery.- - - - - - - - - - ranking = 2.6850982612645keywords = lissencephaly (Clic here for more details about this article) |
3/8. Infantile spasm induced by hemispheric pachygyria ultrasound, MRIand Tc-99m HMPAO SPECT.We report a case of infantile spasm induced by hemisphere pachygria in which ultrasound and MRI provided precise anatomic information of hemisphere pachygria and Tc-99m HMPAO SPECT scintigraphy supplied an accurate assessment regional cerebral blood flow of infantile spasm during a seizure.- - - - - - - - - - ranking = 4keywords = pachygyria (Clic here for more details about this article) |
4/8. Computed tomography of the brain in the smith-lemli-opitz syndrome.Computed tomographic (CT) scans of the brain in a child with smith-lemli-opitz syndrome revealed enlargement of the ventricular system, hypoplasia of the cerebellum, and abnormal thickening of the gray matter, consistent with pachygyria. These findings have been previously noted in autopsies performed on patients with this disorder. We conclude that CT scanning is a valuable tool in the evaluation of children suspected of having the smith-lemli-opitz syndrome.- - - - - - - - - - ranking = 1keywords = pachygyria (Clic here for more details about this article) |
5/8. Clinical manifestations and evaluation of isolated lissencephaly.lissencephaly ("smooth brain") is a brain malformation characterized by a smooth cerebral surface, incomplete neuronal migration, and secondary abnormalities such as mental retardation, seizures, and minor facial dysmorphisms. Recent reports have produced evidence supporting several different causes including submicroscopic deletions in chromosome band 17p13.3, autosomal recessive inheritance, intrauterine infection, and intrauterine perfusion failure. We describe the clinical manifestations in seven patients with lissencephaly, and review pertinent studies regarding possible causes. The clinical manifestations were uniformly severe. All patients had severe mental retardation, hypotonia, often combined with spastic paralysis, and infantile spasms which did not respond to treatment. Most had poor growth, postnatal microcephaly, feeding problems, and frequent respiratory infections including pneumonia. None had other significant birth defects. Appropriate studies include computed tomography or magnetic resonance imaging (sometimes both), chromosome analysis, dna analysis of the lissencephaly region on chromosome 17, electroencephalography and sometimes metabolic studies.- - - - - - - - - - ranking = 2.6850982612645keywords = lissencephaly (Clic here for more details about this article) |
6/8. Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?Four children with congenital muscular dystrophy (CMD), eye and brain abnormalities are described. Their clinical and neuroradiological features are compatible with a diagnosis of walker-warburg syndrome (WWS), according to the criteria proposed by Dobyns et al. (i.e., presence of type II lissencephaly, typical cerebellar and retinal malformations, CMD), who also conclude that WWS is indistinguishable from the muscle-eye-brain disease (MEBD) described by Santavuori. On the basis of our own experience and two recently published series, we emphasize certain features that are different in patients with WWS and patients with MEBD, which make their inclusion in the same syndrome dubious.- - - - - - - - - - ranking = 0.44751637687741keywords = lissencephaly (Clic here for more details about this article) |
7/8. aicardi syndrome: more than meets the eye.An eight-month-old girl with infantile spasms and apparent blindness had electroencephalographic findings compatible with aicardi syndrome. In addition to optic nerve hypoplasia, there were multiple congenital retinal malformations in the right eye, including chorioretinal lacunae, anomalous retinal vessels, posterior scleral ectasia, and a peripheral fibrous ridge. magnetic resonance imaging demonstrated agenesis of the corpus callosum, absence of the septum pellucidum, optic nerve and chiasmal hypoplasia, pachygyria, cortical heterotopias, colpocephaly, and hypoplasia of the cerebellar vermis. This patient illustrates the broad spectrum of cerebroretinal malformations now known to characterize aicardi syndrome.- - - - - - - - - - ranking = 1keywords = pachygyria (Clic here for more details about this article) |
8/8. Hemimegalencephaly--morphological and immunocytochemical study.Hemimegalencephaly (HME), a rare congenital abnormality characterized by unilateral enlargement of the cerebral hemisphere, is one of the less common causes of intractable seizures. We report a 6-month-old infant with uncontrolled seizures who was diagnosed to have a large mass lesion based on a CT scan. Postmortem examination revealed left-sided HME with pachygyria, widened cortex, indistinct grey-white junction, and distorted deep nuclear masses. Histological features included loss of cortical lamination, large atypical neurons with argyrophilic accumulations, ballooned cells, neuronal heterotopia, and astrocytosis with dystrophic calcification. The heterotopic neurons in the white matter were present in a radial pattern suggestive of aberrant neuronal migration. Several large neurons were dystrophic with cytoskeletal abnormalities like phosphorylated high molecular weight neurofilament and ubiquitin in the cytoplasm. However, typical neurofibrillary tangles with congo red and tau positivity were not observed. synaptophysin labelling was found to be decreased in the cortex, but some of the abnormal neurons had dense perisomatic label. The majority of the balloon cells were astrocytic in origin, being positive for glial fibrillary acidic protein and negative for the neuronal markers. Although the etiology of HME is not known, it provides an opportunity to study anomalous development of the brain and neuronal developmental abnormalities.- - - - - - - - - - ranking = 1keywords = pachygyria (Clic here for more details about this article) |