21/302. Cortical visual impairment in children with infantile spasms. BACKGROUND: Infantile spasms are often associated with cortical visual impairment. METHOD: We report a series of 10 patients with infantile spasms, hypsarrhythmic electroencephalograms, and developmental delay, (ie, West syndrome), who presented with severe visual inattention despite a normal ocular examination. RESULTS: At follow-up (14 months to 6 years), 5 patients (50%) had no improvement in their visual behaviour. Although some degree of improvement was observed in the others, their visual function remained abnormal. All patients had moderate or severe mental retardation. CONCLUSIONS: The clinical features of West syndrome are reviewed, and the cause of the associated cortical visual impairment is discussed. Cortical visual impairment with infantile spasms is an important association, which pediatric ophthalmologists should recognize. ( info) |
22/302. Human herpesvirus-6 associated encephalitis with subsequent infantile spasms and cerebellar astrocytoma. A 14-month-old girl presented after 3 days of fever, floppiness, and diffuse urticarial exanthem. She developed encephalitis and carditis and 1 week later, intractable seizures. Initial CT and MRI showed no changes in the brain parenchyma. On days 14 and 34 after the onset of symptoms, a human herpesvirus-6 (HHV-6) genome in cerebrospinal fluid was identified by polymerase chain reaction (PCR). Convulsions became more frequent and 11 weeks from the onset, they changed to typical infantile spasms with hypsarrhythmic electroencephalogram. She gradually lost her social contact and ability to walk and sit. Eleven months after the primary infection, a repeated MRI of the brain revealed a cystic tumour of 2 cm in diameter near the vermis. The tumour was surgically removed, and shown to be a pilocytic astrocytoma on histopathological examination. HHV-6 dna was detected by PCR in new tumour tissue. This is the first reported case of HHV-6 encephalitis associated with carditis, infantile spasms, and a subsequent brain tumour containing the HHV-6 genome. ( info) |
23/302. Circadian changes of heart rate in West syndrome. Patterns of circadian and ultradian rhythms in the heart rate (HR) are described in a full-term baby with birth asphyxia and convulsions. A 24h HR recording was carried out at the age of 1, 15, 56, 289, and 295 days; West syndrome diagnosis was made when the patient was 3 months old. The HR showed no circadian rhythm in the follow-up, whereas it is known that the circadian rhythm appears in healthy infants at the age of 1 month and remains thereafter. This observation may be an indirect indicator of the interference of West syndrome with centers of neurological maturity. ( info) |
24/302. 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. ( info) |
25/302. Repetitive sleep starts in neurologically impaired children: an unusual non-epileptic manifestation in otherwise epileptic subjects. sleep starts, also called hypnagogic or hypnic jerks, are bilateral, sometimes asymmetric, usually single, brief body jerks that coincide with sleep onset. We describe sleep starts occurring repetitively in three epileptic children with spastic-dystonic diplegia and mental retardation. Repetitive sleep starts began at age 18 months in two children and at 9 months in the third. All three children had had feto-neonatal asphyxia; two presented with spastic and one with dystonic tetraparesis. One had West syndrome and two had partial motor seizures in the first year of life. seizures were controlled in all three patients by antiepileptic drug therapy. Video/EEG recordings of all the children during the afternoon nap revealed clusters of sleep starts during the transition between wakefulness and sleep. Cluster lasted 4-15 min and comprised from twenty to twenty-nine contractions. The EEG counterpart of the event sometimes showed an arousal response, at times inducing complete awakening. Repetitive sleep starts should be recognized and clearly differentiated from epileptic seizures, especially if they appear in epileptic subjects. In neurologically compromised patients, they could represent an intensification of an otherwise normal event, due to the lack of strong inhibitory influence of the pyramidal tract resulting from the pyramidal lesion. ( info) |
26/302. An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities. A female patient is presented with infantile spasms, punched-out retinal lesions, facial dysmorphism, short upper arms, short thumbs, left lower limb hypoplasia with foot deformity, a hemivertebra, atrial septal defect, growth retardation and severe developmental delay. There is some similarity to patients with aicardi syndrome (AS), but the retinal lesions in our patient are different and she does not have agenesis of the corpus callosum, one of the diagnostic features of AS. She might represent an atypical form of this syndrome with additional features, usually not present in AS. As there is no diagnostic test for AS yet, this diagnosis cannot be confirmed nor rejected with certainty. However, it might be more likely that our patient has another, possibly unique, condition. ( info) |
27/302. Successful zonisamide treatment for infants with hypsarrhythmia. We determined that zonisamide was effective in three epileptic infants with hypsarrhythmia. Two patients had the electroencephalographic pattern of hypsarrhythmia associated with developmental delay but lacked the characteristic tonic spasms. A third patient exhibited the typical triad of infantile spasms but had a poor general condition requiring controlled ventilation. We therefore chose zonisamide instead of adrenocorticotropin for these patients. Our data suggest that zonisamide may be a useful treatment in patients falling short of the diagnostic triad of infantile spasms or complicated by a poor overall medical condition. ( info) |
| 3-phosphoglycerate dehydrogenase deficiency is a severe but treatable disorder of serine synthesis, first described in 1996 (Jaeken et al. 1996a). The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs. Treatment with oral L-serine abolished seizures and improved psychomotor development, hyperexcitability, head growth, cortical and subcortical hypotrophy, and hypomyelination of the brain on MRI scans. 3-phosphoglycerate dehydrogenase deficiency is a treatable congenital error that probably leads to West syndrome. ( info) |
29/302. Liposteroid therapy for refractory seizures in children. Liposteroid is dexamethasone palmitate incorporated into liposomes and was developed as an anti-inflammatory drug for targeting therapy mainly for rheumatoid arthritis. Recently, it was reported that liposteroid might be effective for the treatment of West syndrome, with fewer side effects than those of corticotropin therapy. We describe three patients, a 2-month-old boy with early infantile epileptic encephalopathy, a 4-month-old girl with symptomatic West syndrome, and a 2-year-old girl with symptomatic localization-related epilepsy, whose refractory seizures were treated with liposteroid according to the original method reported by Yamamoto and colleagues in 1998. Uncontrollable seizures ceased completely in two patients and the seizure frequency decreased markedly in the other patient. Electroencephalograms revealed marked improvement in all patients. They showed no relapse of the seizures, and all showed no adverse effects except for mild brain shrinkage in one patient. Our experience with these three patients suggests that liposteroid therapy might be a new option for the treatment of refractory seizures in children, as well as for West syndrome. ( info) |
30/302. 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. ( info) |