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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Unusual computed tomographic findings were observed in two infants with similar clinical pictures including delay in developmental milestones, seizures, decerebrated posture, and microcephaly. Computed tomography revealed small brain with widened subarachnoid space, smooth surface of the brain, uniformly enlarged ventricles, wide sylvian cisterns, and lack of insular opercularization. These findings coincide with pathologic features of lissencephaly (agyria), a rare congenital anomaly of the brain due to interruption of neuronal migration.
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PMID:Lissencephaly (agyria) on computed tomography. 42 98

A clinico-pathological report is given on 4 cases of agyria (premature neonate to age 13 months), 3 cases of pachygyria (aged 2,5 to 4,3 years) and a boy aged 4,5 years with temporal pachygyria and frontal microgyrias. Clinical features, more pronounced in agyria than in pachygyria, were microcephaly, frequent facial anomalies, neonatal feeding difficulties, hypotonia with subsequent seizures, hypsarrhythmic EEG pattern in 3 children, arrest of psychomotor development and signs of decerebration. One case of agyria occurred with familial faciorenal dysplasia, two were associated with congenital heart disease, and the fourth with chromosomal abnormality. Morphologically, the colpocephalic brain showed a four-layered agyric pallium with radially aligned cell columns and periventricular heterotopias, lacking differentiation of the claustra, olivary heterotopias and cerebellar dysgenesias in the 4 younger infants. In the agyric neonate additional agenesis of corpus callosum was present. Pachygyric brains showed a six-layered cortex, periventricular heterotopias, lacking differentiation of the claustra, but no cerebello-olivary anomalies. Cytoarchitectonic analysis of the agyric cortex suggests a disorder of neuronal migration during stage III of neocortex formation (Rakic and Sidman) between the 11th and 13th fetal week, while the pachygyric cortex showing the later formed layers II and IV presumable is caused by an attenuated and later disorder acting in early stage IV of neocortex formation, i. e. around or after the 13th fetal week. Additional insula-claustrum dysplasia, olivary and cerebellar anomalies are due to concomittent migration disorders between the 11th and 14th week. Along this period there is a gradient from agyric to normal six-layered cortex, whereas microgyria presumably results from an event occurring after migration has terminated (after the 16th fetal week). Etiological factors of agyria-pachygyria may be both hereditary (familial lissencephaly-syndrome) and environmental ones (prenatal drug application or intrauterine perfusion disorders).
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PMID:Agyria-pachygyria (lissencephaly syndrome). 98 18

We report clinical, cytogenetic, and molecular studies in 65 patients with isolated lissencephaly sequence (ILS). All had type I lissencephaly of varying severity and a grossly normal cerebellum. Some had additional brain abnormalities. Facial appearance was essentially normal. All had severe to profound mental retardation, seizures, hypotonia that evolved into spasticity, and feeding difficulties. Clinical and laboratory studies demonstrated etiologic heterogeneity. Molecular studies detected microdeletions in chromosome band 17p13.3 in six of 44 patients tested, confirming that deletion of all or part of this "critical region" is the cause of ILS in some cases. There were slightly larger deletions in the same region in a majority of patients with Miller-Dieker syndrome. One patient had an apparently balanced, de novo reciprocal translocation with breakpoints at Xq22 and 2p25. Four sibs from two families had a new, autosomal recessive syndrome of ILS with neonatal death. Other causes supported by clinical observations include autosomal recessive inheritance, intrauterine infection, and intrauterine perfusion failure. Those ILS probands in whom no etiology could be established had 41 sibs of whom three were affected, giving an empiric recurrence risk of 7%.
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PMID:Causal heterogeneity in isolated lissencephaly. 162 Mar 49

Twenty-one neonates with subependymal cysts detected by neurosonography soon after birth were prospectively examined. The clinical and cranial sonographic findings were evaluated with respect to short-term prognosis. The prognosis was poor in 6 patients with congenital viral infection (4 with cytomegalovirus infection and 2 with rubella infection). Five patients also had neurodevelopmental abnormalities (2 with neonatal epileptic seizures, 2 with chromosomal abnormalities, and 1 with lissencephaly). The remaining 10 patients had normal psychomotor development. The incidence of congenital viral infection was statistically correlated with a poor neurodevelopmental outcome. A correlation did not exist between the short-term prognosis and each of the other clinical factors or cranial sonographic findings. Our evidence suggests that further investigation of possible subependymal cyst etiologies is required during a careful, long-term follow-up period.
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PMID:Clinical analyses and short-term prognoses of neonates with subependymal cysts. 196 31

A 3-month-old white male with linear nevus sebaceous syndrome (LNSS), facial deformities, brain malformations, and cortical blindness is presented. Facial deformities included left ear hypertrophy and a left-sided hamartomatous neck mass. Magnetic resonance imaging suggested that a central nervous system (CNS) abnormality, involving gray and white matter, should be linked with LNSS. Magnetic resonance imaging was more useful than computed tomography in demonstrating the full spectrum of CNS anomalies, including unilateral lissencephaly, a paucity of white matter, excessive and heterotopic gray matter, apparent left schizencephaly, and unilateral left colpocephaly (dilation of atrium and posterior horn of lateral ventricle). Postmortem examination revealed left hemisphere megalencephaly with a dilated posterior horn of the lateral ventricle. The impressive gray matter heterotopias likely were the source of the patient's seizures and perhaps the ultimate cause of death. Megalencephaly and other deviations of neuronal migration should be considered as a dramatic component of LNSS.
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PMID:Linear nevus sebaceous syndrome: megalencephaly and heterotopic gray matter. 202 93

A 3570 gram male newborn was born to a 29-year-old mother at the gestational age of 40 weeks with gross abnormalities of flexion contracture of third and fifth fingers and fourth toes bilaterally. After birth, cyanotic spell while feeding was found, and a series of examinations were done. The abnormalities were focused on brain echogram, computed tomogram and magnetic resonance imaging examination, which showed a large posterior fossa cyst, cerebellar hypoplasia complicated with multiple severe supratentorial anomalies, including marked ventricular dilatation, cerebral agyria, agenesis of corpus callosum, absence of thalamus and basal ganglion, and optic nerve atrophy. Clinically, the patient had neonatal seizure and high fever. The diagnosis of Dandy-Walker complex type A was made according to the new classification presented by Barkovick et al. in 1989.
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PMID:[Dandy-Walker complex with multiple anomalies: report of one case]. 206 87

Lissencephaly type I has been described as either the cerebral expression of a complex malformation syndrome such as Miller-Dieker syndrome (MDS), or as isolated lissencephaly sequence (ILS). In a nation-wide study in The Netherlands, of 21 patients with lissecephaly type I, four were found to have MDS and 17 ILS. New clinical aspects were as follows: the mean life-span of the entire group was longer than previously reported; patients with lissencephaly grades 3 or 4 (mixture of agyria and pachygyria, or complete pachygyria) developed seizures later than those with grades 1 and 2 (complete and almost complete agyria); microcephaly was not always present in patients with grades 3 and 4 lissencephaly; and patients with lissencephaly grades 1 and 2 had hardly any psychomotor development, while those with grades 3 and 4 were severely retarded.
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PMID:Diagnostic features and clinical signs of 21 patients with lissencephaly type 1. 221 85

I analyzed 18 cases of brain malformations detected by autopsy and five cases of lissencephaly diagnosed by CT scan or MRI. 1) Autopsy Cases Brain malformations were highly complicated, and many cases showed more than one type of brain malformation. Epileptic seizures were observed in 13 of 18 cases. In most cases, the seizures were characterized by infantile onset, a high incidence of tonic seizures and difficulties in controlling them. 2) Patients with Lissencephaly They all had severely retarded psychomotor development. Tonic seizures were observed in all the five patients, two of whom had a past history of infantile spasms. The EEG patterns of these patients were varied. It is thought that a relationship exists between the severity of CT or MRI findings and that of EEG findings.
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PMID:Special etiologies in the classification of epilepsy--with special reference to brain malformations. 225 20

One and a half year-old boy was admitted to our hospital with a history of intractable myoclonic epilepsy. Seizures were fairly controlled on carbamazepine, phenobarbital, diphenylhydantoin and clonazepam, but still occurred several times per month. Neurological examination showed mild psychomotor retardation. The CT and MR imaging studies showed both large heterotopic gray matter and supracerebellar arachnoid cyst. No enhancement was noted after the administration of contrast medium. No calcification was present. In the MR image, a large nodule in the right hemisphere showed almost the same signal intensity as the cortical gray matter. The right lateral ventricle was absent for a portion of the anterior horn. The sulci on the right parietal lobe were almost absent, suggesting the region of agyria.
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PMID:[MR imaging of large heterotopic gray matter]. 250 Jan 42

We report the case of an infant with facial dysmorphism, congenital hydrocephalus, severe hypotonia and absence of psychomotor development, with ocular and cerebral malformations consistent with the diagnosis of Walker-Warburg syndrome (WWS). Investigations included a cerebral CT scan indicative of type II lissencephaly and a muscular biopsy which showed findings of muscular dystrophy. The association of hypotonia, developmental delay and seizures with a neuronal migration disturbance and retinal involvement raised the suspicion of a peroxisomal disorder. The pertinent biochemical investigations, however, were negative. The features of this syndrome are reviewed, emphasizing the similarities with other related disorders as cerebro-oculo-muscular syndrome. We suggest that muscle involvement should be investigated in every case of WWS.
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PMID:[Walker-Warburg syndrome: cerebro-ocular dysgenesis and congenital muscular dystrophy]. 261 34


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