Cases reported "Spasms, Infantile"

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1/26. Folinic acid-responsive neonatal seizures.

    We report three cases of folinic acid-responsive intractable neonatal seizures. All patients were born at term following normal gestation and delivery. In the first infant, seizures began on the 5th day of life and were unresponsive to phenobarbital, pyridoxine, and valproate, but stopped within 24 hours of initiation of folinic acid treatment at the age of 6 months. Her sibling had died at age 6 months with intractable seizures. In the second infant, seizures began in the 2nd hour of life. These were initially controlled with phenobarbital; however, at 3 months of age she developed status epilepticus refractory to anticonvulsants, steroids, and pyridoxine and she required repeated induction of pentobarbital coma. seizures stopped within 24 hours of starting folinic acid. seizures and encephalopathy were noted in the third infant on the 2nd day of life. These were controlled with phenobarbital, but at 8 weeks of age seizures recurred and were difficult to control despite the addition of phenytoin. Immediately after folinic acid was initiated the seizures stopped. Breakthrough seizures in all patients have responded to increases in folinic acid; two of the three remain on standard anticonvulsants. All patients have global developmental delay. Cranial magnetic resonance imaging in the second patient shows diffuse atrophy, and in the third patient shows increased signal on T2 images in the white matter of the frontal and parietal lobes. Analysis of cerebrospinal fluid from these patients using high-performance liquid chromatography with electrochemical detection has consistently revealed an as-yet unidentified compound, which can be used as a marker for this condition. We suggest that cerebrospinal fluid be analyzed for the presence of this compound and a trial of folinic acid be considered in neonates with unexplained early onset intractable seizures.
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ranking = 1
keywords = status epilepticus, epilepticus, status
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2/26. Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency.

    We treated a female patient with West syndrome caused by thiamine-responsive pyruvate dehydrogenase complex (PDHC) deficiency. Infantile spasms occurred in association with elevated blood and CSF lactate concentrations; these symptoms disappeared when lactate concentrations had been lowered by treatment with concomitant sodium dichloroacetate (DCA) and high dose thiamine. Sequencing the patient's PDHC E(1)alpha subunit revealed a substitution of serine for glycine at position 89 in exon 3 (G89S). This mutation must be a de novo mutation because it was not found in either parents' genome dna. To our knowledge, five previously described patients with PDHC deficiency have displayed the West syndrome. All six known patients, including our own, were female, even though an approximately equal number of males and females have been identified with PDHC deficiency and overall West syndrome occurs somewhat more frequently in males. These results indicated that West syndrome occurred more frequently in female patients with PDHC deficiency. It is suggested that lactate concentration should be measured in patients with West syndrome for potential PDHC deficiency, especially in females.
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ranking = 0.0014507732105081
keywords = complex
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3/26. Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis.

    We report seven families and two sporadic cases in which benign infantile convulsions and paroxysmal kinesigenic choreoathetosis were co-segregated. Clinical investigations included physical and neurological examinations, blood electrolyte values, interictal and ictal electroencephalograms, and computed tomography or magnetic resonance imaging of the brain. The family pedigree was confirmed and the clinical history of the relatives was obtained. Seventeen individuals developed infantile convulsions followed by paroxysmal dyskinesias during childhood or adolescence. Six had only infantile convulsions, and two had only paroxysmal dyskinesias. The seizures never persisted into childhood or recurred in adulthood. The seizure type was a complex partial seizure, with or without secondary generalization, in nine of 14 patients. Paroxysmal dyskinesias, a subgroup of paroxysmal kinesigenic choreoathetosis, occurred for less than 5 min. The attacks of dyskinesias began at age 5-12 years in most patients, and tended to remit in adulthood. The mode of inheritance was apparently autosomal dominant in four of the families (17 affected individuals), who were diagnosed with ICCA syndrome (infantile convulsions and paroxysmal choreoathetosis). However, the condition occurred only among siblings in three families (six patients), and sporadically in two patients, suggesting genetic heterogeneity in this distinct co-segregation.
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ranking = 0.00029015464210163
keywords = complex
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4/26. The pseudo-rhythmic electroendephalogram after cardiac arrest.

    Five cases are presented showing on the EEG pseudo-rhythmic discharges appearing on almost flat lines, after reanimation of a cardiac arrest. The morphology of the complexes is quite similar, except in the period immediately preceding death, where they are more disformed. All patients died within the following days, except one. In four of the five cases myoclonic jerks occurred, consisting of brief convulsions over the whole body, especially in the arms and the face. A literature survey shows that this EEG pattern after circulatory arrest, is not rare. It is almost always followed by death. Myoclonic jerks may or may not be present and are not necessarily synchronous with the EEG discharges. The electrogenetic origin is not yet elucidated, although it seems that the pattern may appear at a state of complete loss of cortical function.
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ranking = 0.00029015464210163
keywords = complex
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5/26. Childhood-onset epilepsy associated with polymicrogyria.

    To study the electroclinical characteristics of patients with childhood-onset epilepsy who showed polymicrogyria (PMG) on MRI, we classified 15 patients according to the location of PMG on MRI. The composition of the subjects was as follows: four patients with PMG in both hemispheres; three with localized PMG in one hemisphere associated with other lesions such as porencephaly; and eight with only localized PMG in one hemisphere. We investigated the electroclinical characteristics of the epileptic syndromes associated with these different types of PMG. Four patients suffered from infantile spasms during their clinical course. Five patients suffered from epilepsy with electrical status epilepticus during slow sleep (ESES) and ESES-related epilepsy. The other six patients had only localization-related epilepsy throughout their clinical course. patients with PMG in both hemispheres, and localized PMG in one hemisphere associated with other lesions tended to have early-onset intractable seizures, especially infantile spasms. On the other hand, patients with only localized PMG in one hemisphere had ESES and ESES-related epilepsy or localization-related epilepsy, and their seizure prognosis was relatively favorable. These findings are useful in predicting the outcome of patients with PMG.
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ranking = 1
keywords = status epilepticus, epilepticus, status
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6/26. Epileptic spasms in clusters without hypsarrhythmia in infancy.

    Spasms are defined as epileptic seizures characterized by brief axial contraction, in flexion, extension or mixed, symmetric or asymmetric, lasting from a fraction of a second to 1-2s, and are associated with a slow-wave transient or sharp and slow-wave complex, followed or not by voltage attenuation. Epileptic spasms usually appear in clusters and are age-dependent. This type of epileptic spasms associated with the particular EEG pattern, hypsar rhythmia, constitutes the basis for the diagnosis of West syndrome. The question is, how to nosologically define those patients who clearly present epileptic spasms in clusters without modified or typical hypsarrhythmia and with or without focal paroxysmal discharges on the interictal EEG. In the present series, the four patients show that epileptic spasms in clusters may occur in infancy, without hypsarrhythmia. They all presented the following features: normal neuropsychological development before onset of epileptic spasms, clusters of epileptic spasms, focal clinical and/or EEG abnormalities, normal neuroradiological imaging, neurometabolic investigations and karyotypes. In three of the patients, seizures were refractory to AEDs. Epileptic spasms in clusters without hypsarrhythmia that start in the first year of life represent a subtype of infantile spasms that generally are refractory to AEDs. It is not yet clear whether it should be considered as a variant of West syndrome or not [Published with Video sequence].
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ranking = 0.00029015464210163
keywords = complex
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7/26. epilepsy in angelman syndrome associated with chromosome 15q deletion.

    We report eight sporadic cases of typical angelman syndrome (AS) associated with chromosome 15q12 deletion. Age at first visit was 3-35 months (average 18 months), and follow-up period was 4-20 years (average 14.1 years). The characteristic features of epilepsy in AS are (a) seizure onset in early childhood (8 of 8); (b) evolution of seizure type with age (8 of 8); (c) EEG abnormality changes from high-voltage slow bursts (HVS) in infancy to diffuse spike and waves in middle childhood (4 of 5); (d) atypical absence seizures (8 of 8), often occurring as atypical absence status (4 of 8); and (e) diminution of seizure discharges and clinical seizures after puberty (7 of 7). We believe that AS may frequently exist in the intractable epilepsies of childhood with severe mental retardation. We stress the importance of AS as one of the main etiologic background diseases of the intractable epilepsies with infantile onset such as West syndrome, Lennox-Gastaut syndrome, and others.
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ranking = 0.0070251793266453
keywords = status
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8/26. An atypical case of aicardi syndrome with favorable outcome.

    aicardi syndrome is a severe congenital disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. A 6 month old female had developed abnormal eye movement and seizures of the complex partial type and myoclonic type. MRI pictures of the patient revealed the presence of genu associated with agenesis of the rest of corpus callosum. A funduscopic examination revealed bilateral small, solitary, pale areas with sharp borders, some of which had minimal surrounding pigmentation (chorioretinal lacunae), especially clustered around the disc, and they were more prominent on the left side. We report here on the unusual findings of a complex partial seizure, myoclonic seizure and the atypical EEG finding in addition to the well-known characteristic clinical and imaging findings of a patient with aicardi syndrome.
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ranking = 0.00058030928420325
keywords = complex
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9/26. Congenital ceroid-lipofuscinosis.

    A term infant, observed at birth to be microcephalic, developed status epilepticus and died 36 hours later. At autopsy a markedly atrophic brain was found which, by microscopic examination, demonstrated changes consistent with neuronal ceroid-lipofuscinosis. Cerebral lipidosis with microcephaly presenting at birth is extremely rare. Congenital neuronal ceroid-lipofuscinosis is an atypical form of ceroid-lipofuscinosis and should be considered in the differential diagnosis of the microcephalic neonate with seizures.
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ranking = 1
keywords = status epilepticus, epilepticus, status
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10/26. Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia.

    seizures are rarely reported in association with deletion or duplication syndromes of the short arm of chromosome 5, or with chromosome 5 rings. We report on the clinical and cytogenetic findings in a girl with Cri du chat syndrome associated with complex abnormalities in chromosome 5, dysmorphic features, flexor infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia in her brain. Peripheral blood cytogenetic analysis indicates a mosaic karyotype with de novo deletion of varying amounts of 5p and pericentric inversion of the same chromosome 5. The deleted segment on 5p includes the region implicated in the catlike cry as well as sequences implicated in development of facial dysmorphism and mental retardation. This is the first case with Cri du chat syndrome associated with nonketotic hyperglycinemia, infantile spasms, hypsarrhythmia, and heterotopia.
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ranking = 0.0014507732105081
keywords = complex
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