Update on the syndrome of "chronic encephalitis" and epilepsy.
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Adolescent↗
Biomedical subjects
F Andermann
Publications and source records attributed to F Andermann.
[Clinical analysis of reoperation in cases of complex partial seizures].
Of a series of 526 cases of surgically treated refractory epilepsy, 387 cases were patients with complex partial seizures. Among 118 cases who had no improvement by the first operation, to prevent partial seizures, 20 patients underwent reoperation. Of the 20 patients, 12 (60%) were men. The mean age at the first operation was 21.7 years. A retrospective analysis of clinical findings, successive EEG findings, psychological studies, surgical findings and surgical treatment of these patients were made. Following the first operation, complex partial seizures reappeared within a mean period of 5.5 months. And the mean period from the first operation to the reoperation was 4.9 years. Following reoperations, 6 patients (30%) became seizure-free, 3 patients (15%) had a remarkable reduction of seizures and 7 patients (35%) had worthwhile improvement. But 4 patients (20%) had no improvement. Histopathological study of the resected hippocampus revealed gliosis in 16 patients (80%). The indication for and procedures of reoperation were discussed.
Adolescent↗
Kufs disease: clinical features and forms.
In patients with an acceptable pathological diagnosis of Kufs disease, two major forms have been identified: Type A presenting as progressive myoclonus epilepsy around the age of 30, and Type B presenting in the same age range with dementia as well as cerebellar and/or extra-pyramidal signs. In adolescence, two subgroups of neuronal ceroid-lipofuscinosis (NCL) emerge. The first group consists of patients resembling either type A or B Kufs disease, but with earlier onset (20% of all cases). These must be distinguished from the second group of rare patients with protracted juvenile NCL presenting with early and prominent visual failure. Although Kufs disease is rare, diagnosis during life should now be possible. The advantages, techniques, and pitfalls of biopsy diagnosis are presented by Carpenter et al. [1988]. We believe that delineation of these two clinical syndromes should aid in the identification of other possible cases of Kufs disease, leading to appropriate pathological examinations to confirm the diagnosis. Knowledge of whether this clinical distinction is biologically meaningful must await the discovery of the more fundamental biochemical defects.
Adolescent↗
The Newfoundland aggregate of neuronal ceroid-lipofuscinosis.
We have found a group of individuals with the late infantile, the early juvenile variant, and juvenile neuronal ceroid-lipofuscinosis (NCL) in Newfoundland, an island with a population of 500,000. In the past 25 yr, we have ascertained 44 cases of NCL in 32 sibships: 32 cases of late infantile NCL (LINCL) in 24 sibships, 11 cases of the early juvenile variant in 7 sibships, and one patient with the juvenile form (JNCL). The clinical presentation of the LINCL patients is very characteristic, with onset of seizures at age 2 1/2 to 3 1/2 yr, frequently with drop attacks and myoclonic jerks, followed by mental deterioration, ataxia, visual loss, and death by the end of the first decade. Typical curvilinear profiles are seen on electron microscopy (EM). The second group of patients mainly have the early juvenile variant with onset of seizures at age 5 to 6 yr and fingerprint profiles with occasional curvilinear profiles on EM. However, a child with the juvenile form presenting with blindness was also encountered. In both of these types, death occurs in the second decade of life. There is no overlap of these three clinical forms within sibships, although both late infantile and early juvenile variant types may occur in the same small fishing village. All three forms appear to be inherited as autosomal recessive traits. Although the early juvenile variant has been postulated to represent a double heterozygote between LINCL and JNCL, this cannot be confirmed on the basis of the present study.(ABSTRACT TRUNCATED AT 250 WORDS)
Child, Preschool↗
Focal cortical myoclonus and rolandic cortical dysplasia: clarification by magnetic resonance imaging.
Focal cortical myoclonus is rare. Obvious causes include tumor or atrophy involving the motor strip, but in some cases no cause is apparent. We present 4 patients who started to have focal myoclonus in childhood. All had focal motor seizures as well, and one had recurrent focal motor status epilepticus. All 4 had a mild progressive hemiparesis. Electrographic investigations showed focal epileptic discharges in the contralateral rolandic areas. Radiological studies were unrevealing, but magnetic resonance showed rolandic lesions in 3 patients. At surgery, abnormally wide gyri were found in the distribution demonstrated by magnetic resonance. The pathological substrate was focal cortical dysplasia. All patients have improved considerably following surgery. These findings suggest that focal myoclonus may be due to a rolandic neuronal migration disorder. Visualization of these lesions by magnetic resonance permits development of a surgical strategy leading to optimal treatment of these medically intractable epileptic disorders.
Adolescent↗
Hypothalamic hamartomas and ictal laughter: evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging.
Detailed study of 4 patients and review of the literature allowed us to delineate further the epileptic syndrome associated with hypothalamic hamartomas, which characteristically begins in infancy with laughing seizures. Because early childhood psychomotor development is usually normal, the condition appears benign and may not even be recognized. The episodes of laughter are brief, frequent, and mechanical in nature. These features distinguish it from other forms of epileptic laughter, particularly that which occurs in temporal lobe epilepsy. Subsequently, the seizures become longer, other seizure types appear, and between the ages of 4 and 10 years, the clinical and electroencephalographic features of secondary generalized epilepsy develop. Cognitive deterioration occurs and severe behavior problems are frequent. Prognosis for seizure control and social adjustment is poor. Cortical abnormality occurs in association with the hypothalamic hamartoma. The lesions are best detected by magnetic resonance imaging but may be difficult to identify by computed tomographic scanning.
Adolescent↗
Functional hemispherectomy for treatment of epilepsy associated with hemiplegia: rationale, indications, results, and comparison with callosotomy.
Hemispherectomy is effective in arresting seizures associated with maximal or near maximal hemiparesis. This procedure, however, carries an unacceptable 33% risk of late complications due to cerebral hemosiderosis. Anatomically partial but functionally complete hemispherectomy was devised to avoid these complications. The frontal or occipital lobes, or both, were left in place with the blood supply intact but with connections to commissures and brainstem divided. The central strip and parietal and temporal lobes were removed. Twenty patients were so treated with a follow-up of 4 to 13 years (average, 7.3 years) in 14. Ten of these are seizure free, 1 had a single nocturnal seizure, 1 had occasional focal twitching, and 2 had a worthwhile but lesser reduction in the seizure tendency. None has developed cerebral hemosiderosis, to date. In appropriately selected patients, functional hemispherectomy is an effective procedure preferable to callosotomy or to partial hemispherectomy. When there is no independent ictal discharge from the opposite hemisphere, arrest of seizures may be expected, leading to improvement in cognitive functioning (mean increase, 10 IQ points), social behavior, and a reduction in or discontinuation of anticonvulsant medication. In these patients, gait and hand use remain unchanged.
Adolescent↗
Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia.
We report 14 patients with a slowly progressive syndrome featuring ataxia, choreoathetosis, and ocular motor apraxia in both the horizontal and vertical planes. Although the neurological signs were indistinguishable from those of ataxia-telangiectasia, the onset tended to be later and none of the patients had evidence of multisystemic involvement. Specifically, there was no tendency to frequent infections, and immunoglobulins, alpha-fetoprotein, T- and B-lymphocyte markers, and chromosomes 7 and 14 were normal in all tested patients. The simultaneous absence of telangiectasias and of other nonneurological manifestations made ataxia-telangiectasia an unlikely diagnosis. We suggest that these patients suffer from an unusual type of spinocerebellar degeneration. This syndrome has been observed in different populations from three continents, with a genetic pattern suggesting recessive autosomal inheritance.
Adolescent↗
Startle disorders of man: hyperekplexia, jumping and startle epilepsy.
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Epilepsy↗
Kufs' disease: a critical reappraisal.
A review of 118 cases published as Kufs' disease revealed only 50 cases, including 2 patients described herein, that fulfilled our criteria for this diagnosis. Of the other 68 cases, 16 had inadequate data for analysis, 21 had evidence of a storage disease other than Kufs' disease, 10 did not have clear evidence of any neuronal storage, and 21 had atypical clinical features considered outside the spectrum of Kufs' disease. The 50 cases accepted as Kufs' disease comprised two clinical phenotypes; progressive myoclonus epilepsy (Type A) and dementia with motor disturbances (Type B). Marked photosensitivity was a striking feature of some Type A cases, and facial dyskinesias were common amongst Type B patients. Onset was typically at around the age of 30 years. A few cases began in adolescence; these differ from the protracted juvenile form of neuronal ceroid-lipofuscinosis by the absence of visual failure. Demonstration of fingerprint profiles or granular osmiophilic deposits by electron microscopy is mandatory for definitive diagnosis. Urinary sediment dolichol levels were markedly elevated in our 2 cases. This biochemical finding confirms the relationship of Kufs' disease to the early forms of neuronal ceroid-lipofuscinosis and is consistent with our hypothesis that these diseases are due to defects in the intracellular processing of lysosomal and related membranes.
Adult↗
Familial myopathy with changes resembling inclusion body myositis and periventricular leucoencephalopathy. A new syndrome.
Five of 6 male siblings were affected by a progressive myopathy beginning in early childhood. Muscle biopsies in all patients showed the characteristic changes of inclusion body myositis. Computerized tomography and magnetic resonance imaging revealed a markedly abnormal appearance of cerebral white matter in the 4 affected patients tested, but clinical and other laboratory examinations failed to demonstrate evidence of central white matter dysfunction. Muscle biopsies and brain imaging were normal in all clinically unaffected family members. On the basis of the genetics, muscle biopsy findings and cerebral white matter changes, we conclude that this constellation represents a hitherto undescribed syndrome.
Adult↗
Immunological studies in focal epilepsy.
Serum immunoglobulins, T-lymphocyte subsets and HLA investigations were carried out in 24 patients with focal, mainly temporal lobe, epilepsy and in 30 of their first degree relatives. The mean serum level of IgA was significantly decreased in the epileptic probands compared with controls. In the relatives, there was a significant decrease in mean IgM levels. The epileptic group had significantly fewer circulating T4 "helper" lymphocytes (absolute and percent) and an increased percentage of T8 "cytotoxic"/"suppressor" lymphocytes than the controls. The effect of antiepileptic drug treatment on these results is discussed. The frequencies of 63 HLA specificities determined were not significantly different in probands compared with controls. Among 5 of the most commonly occurring haplotypes there was a lower frequency of the haplotype A1,B8 in epileptic probands, which is in accordance with an earlier study on benign focal epilepsy in children. The immunological findings support the possibility that focal epilepsy may be linked to a genetically dependent immune dysregulation. The latter may contribute to the variability underlying the multifactorial inheritance of the epilepsies.
Adolescent↗
The Landau-Kleffner syndrome of acquired epileptic aphasia: unusual clinical outcome, surgical experience, and absence of encephalitis.
The syndrome of acquired verbal auditory agnosia in childhood with mutism and epileptic discharges has been described in over 100 cases. An encephalitic etiology has often been postulated but never proved. We report two patients with this syndrome who were treated surgically. Despite careful search, no pathologic evidence of encephalitis was found. One patient, with the typical course, had no seizures but striking positive correlation between epileptic discharge and language disorder; the second, after classic onset, developed intractable temporal lobe epilepsy, a previously unreported outcome of this syndrome. EEG discharges are generalized, bilateral, multifocal, or with shifting predominance but mainly temporal in 85% of reported cases, and unilateral, also predominantly temporal, in 15%. Language areas are preferentially involved. This syndrome has certain biologic features that resemble the benign epilepsies of childhood and may be the result of the unusual localization of the epileptic abnormality.
Adult↗
Epileptic Munchausen's syndrome: a form of pseudoseizures distinct from hysteria and malingering.
A young woman with seizures and status epilepticus sought and obtained hospitalization in at least 25 hospitals in the province of Quebec between 1980 and 1987. She was thought to have uncontrolled epilepsy; her treatment led to intoxication with anticonvulsants and once to anesthesia for three consecutive periods of 7 days each. The nonepileptic nature of her attacks was proven and a diagnosis of Munchausen's syndrome made. She was transferred to a psychiatric center where she committed suicide. We found no documented cases of epileptic chronic factitious disorder in the literature.
Adult↗
MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission.
Severe prolonged migrainous symptoms and prolonged partial status epilepticus are characteristic features of the MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). Maternal transmission previously found in myoclonus epilepsy and ragged-red fibers (MERRF), another mitochondrial disease, is suggested in this disorder as well.
Adolescent↗
Excitatory amino acids are elevated in human epileptic cerebral cortex.
We used intraoperative electrocorticography to identify and compare specimens from two groups of patients undergoing temporal lobectomy: (1) spiking cortex (12 patients)--epileptic activity recorded over much of the temporal convexity; and (2) nonspiking cortex (9 patients)--temporal convexity free of interictal spiking, epileptic activity confined to the hippocampus and/or amygdala. Comparative amino acid levels were (mumol/g protein, mean +/- SEM): glutamate--spiking 109.8 +/- 1.8, nonspiking 87.4 +/- 2.0 (p less than 0.001); aspartate--spiking 15.2 +/- 0.9, nonspiking 12.2 +/- 0.5 (p less than 0.05); GABA--spiking 15.0 +/- 1.0, nonspiking 13.9 +/- 1.4 (NS); taurine--spiking 14.5 +/- 0.8, nonspiking 12.2 +/- 0.8 (NS); and glycine--spiking 11.5 +/- 0.8, nonspiking 7.4 +/- 0.6 (p less than 0.01). Cortical epileptic activity appears to be associated with elevated concentrations of glutamate, aspartate, and glycine, but not GABA and taurine, perhaps indicating a relative imbalance between putative excitatory and inhibitory amino acid neurotransmitters.
Adolescent↗
Epilepsy and driving.
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Accidents, Traffic↗
Anticonvulsants, folate levels, and pregnancy outcome: a prospective study.
Folate levels in serum and red cells, as determined by a microbiological assay using Lactobacillus casei, and plasma anticonvulsant concentrations were monitored concurrently in nonpregnant (50 subjects) and pregnant (49 pregnancies in 46 subjects) epileptic women. Twenty-three (46%) nonpregnant women had subnormal serum folate levels and 4 nonpregnant women (8%) showed subnormal red cell folate levels. In pregnant women not taking folate supplements, the incidence of folate deficiency increased as the pregnancy advanced. Pregnant women taking folate supplements achieved normal or supranormal blood folate concentrations. In both nonpregnant and pregnant women, serum and red cell folate levels were inversely correlated with plasma concentrations of phenytoin and of phenobarbital, and with the number of anticonvulsants. In 49 pregnancies, there were 10 abnormal outcomes (20.4%): 4 spontaneous abortions (8.2%) and 6 children with major congenital malformations (12.2%). Blood folate levels were significantly lower in pregnancies with an abnormal outcome than in those with a normal outcome. The results suggest a dose-response relationship among anticonvulsants, folate, and adverse pregnancy outcome.
Abnormalities, Drug-Induced↗