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PubMedDate not supplied

Facilitation of infantile spasms by partial seizures.

We report 16 patients with infantile spasms in whom onset of the clusters of spasms appeared to be triggered by close temporal association with partial seizures. Common features included the presence of focal cerebral lesions in 12 infants (3 were classifiable as cryptogenic); all had partial seizures with EEG localization, clusters of bilateral spasms always preceded by partial seizures, and response to adrenocorticotropic hormone (ACTH) and traditional antiepileptic drugs (AEDs) generally was poor. Three had complete agenesis of the corpus callosum, which argues against interhemispheric callosal spread of focal discharges resulting in the generalized spasms. Surgical cortical resections were performed in 6 of the infants, with good outcomes. This group of patients supports a model in which the spasms, although probably generated at a subcortical level, are facilitated or possibly induced by focal discharges from cortical pathology.

Agenesis of Corpus Callosum↗
PubMed1996

Vigabatrin as initial therapy for infantile spasms: a European retrospective survey. Sabril IS Investigator and Peer Review Groups.

PURPOSE: The efficacy and tolerability of vigabatrin (VGB) as an add-on therapy in the treatment of infantile spasm (IS) prompted physicians to explore its use as the first drug in this seizure type. METHODS: Our retrospective study included 250 infants diagnosed with IS; the data obtained were subjected to peer-group review. Of this infant population, 192 infants were considered to have classic IS and had received VGB as their first treatment for the spasms. There was a slight preponderance of boys (57%) in this population. Mean age of IS onset was 5.8 months; 60% had typical hypsarrhythmia. RESULTS: Initial suppression of spasms was obtained in 68% of infants with a median time to response of 4 days at an average VGB dose of 99 mg/kg/day. The best response was seen in those infants with tuberous sclerosis (96% response) and in those younger than 3 months at onset of spasms (90% response). Of these infants, 43 (22%) of 192 subsequently had other types of seizures, and a recurrence of infantile spasms occurred in 28 (21%) of 131 responders. At the end of this study, 96 of 192 infants who could be evaluated were seizure free with VGB monotherapy. Treatment appeared to be well tolerated, with only 33 (13%) infants with adverse events, of which the most common were somnolence (15 patients) and hyperkinesia (eight patients). In only two cases did adverse events require VGB withdrawal. CONCLUSION: This study supports the opinion that VGB may be considered an initial treatment for IS regardless of cause.

Age of Onset↗
PubMed2005

Characteristics of slow waves on EEG associated with epileptic spasms.

PURPOSE: The high-voltage slow waves (HVSs) on EEG associated with epileptic spasms were investigated to clarify their characteristics and their relation to the pathophysiology of spasms in West syndrome and related disorders. METHODS: In 14 patients, digitally recorded EEG segments showing the ictal HVSs were extracted and their traces were overlaid by using an average reference. The ictal HVSs were also averaged to build maps for investigation of the pattern of potential distribution over the scalp. RESULTS: In a total of 685 recorded spasms, 346 (50.5%) with minimal artifacts were selected to demonstrate that the ictal HVSs had a largely consistent waveform and distribution in each patient. The ictal HVSs were symmetrical in 10 patients and asymmetrical in the other four, and were relatively negative over the posterior region and positive over the frontal or temporal regions in 11 patients. Two symptomatic patients showed a marked deviation of the distribution of HVSs to the pathologically more involved hemisphere. An infant with Aicardi syndrome had two different types of spasms, each type showing a consistent pattern of HVSs with a lateralized distribution. CONCLUSIONS: The patterns of distribution of the ictal HVS may be related to the abnormal activation of the brain in the generation of spasms.

Brain↗
PubMed2006

Cryptogenic late-onset epileptic spasms: an overlooked syndrome of early childhood?

PURPOSE: Few reports detailing late-onset epileptic spasms have been published. To determine whether this condition merely represents a late variant of classic West syndrome or exhibits specific features distinct from the latter and related to a later stage of brain maturation, we analyzed the whole population with this specific seizure type, excluding symptomatic cases to avoid the effect of brain lesion. METHODS: We reviewed the files of the 56 children evaluated for epileptic spasms in clusters having begun at age 12 months or later and analyzed clinical and video-EEG data of the 22 patients (4-17 years; mean, 8.5 years) without obvious cause. RESULTS: Interictal EEG did not show classic hypsarrhythmia. A temporal or temporofrontal slow wave and/or spike focus could be identified in all cases. Twelve children showed spasms with a tonic component. Ictal EEG revealed generalized high-voltage slow wave followed by diffuse voltage attenuation with superimposed fast activity. All children also exhibited other types of recorded seizures consisting of bursts of spike-waves with temporofrontal predominance, reminiscent of "atypical absences." In contrast with the occurrence of tonic components within a cluster of spasms, no tonic seizure stricto sensu was recorded or reported by the caregivers. In 10 children, treatment (two vigabatrin, seven hydrocortisone, one adrenocorticotropic hormone) achieved complete cessation of seizures and disappearance of focal EEG anomalies, but spasms persisted in 12 children. CONCLUSIONS: The cryptogenic group in our series without recognized cause and temporal or temporofrontal EEG anomalies seems to represent a type of epileptic encephalopathy intermediary between West and Lennox-Gastaut syndromes, in terms of seizure types and interictal EEG, and could correspond to dysfunction of the maturation process of the temporal lobe, possibly due to an undisclosed lesion.

Adolescent↗
PubMed2004

The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex.

BACKGROUND: The aetiology of the learning difficulty in tuberous sclerosis is debated. It may be related to the amount of tubers in the brain or caused by the infantile spasms that occur in early life. AIMS: To examine the relative contributions to final intelligence (IQ) made by both cerebral tubers and infantile spasms. METHODS: As part of an epidemiological study of tuberous sclerosis in the south of England, patients were recruited who were able to undergo magnetic resonance imaging (MRI) without the need for an anaesthetic. Epilepsy history was determined by interview and review of clinical records. IQ was assessed using either Wechsler intelligence scales or Raven's matrices. RESULTS: A total of 41 patients consented to have an MRI scan. IQ scores were normally distributed about a mean of 91. Twenty six patients had a positive history of epilepsy, and 11 had suffered from infantile spasms. There was a significant relation between the number of tubers and IQ. Infantile spasm status partly confounded the relation between tubers and IQ, but did not render the relation statistically insignificant. The relation between infantile spasms and learning difficulty remained strong even when controlling for the number of tubers.

Adolescent↗
PubMed2006

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

OBJECTIVE: To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. METHODS: Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed. RESULTS: Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett-like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto-temporal predominance and high amplitudes. CONCLUSIONS: The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder, irrespective of whether they have suspected Rett syndrome. Analysis should be considered in these patients in the clinical setting.

Adolescent↗
PubMed1986

Relation between flexor spasms, uninhibited detrusor contractions and anal sphincter activity.

The time relation between flexor spasms, detrusor contractions and anal sphincter activity was recorded in a consecutive series of 111 patients with hyperreflexic bladder and flexor spasms. In 76 of the patients flexor spasms were preceded by detrusor contractions. The opposite pattern, namely detrusor contractions preceded by flexor spasms, was seen in only nine patients. The anal sphincter activity was generally increased in relation to detrusor contractions in patients with spinal lesions but decreased in patients with cerebral lesions. The treatment of flexor spasms and uninhibited detrusor contractions is discussed on the basis of this mutual relationship.

Adolescent↗
PubMed1988

Painful muscle spasms complicating algodystrophy: central or peripheral disease?

A 21 year old female patient developed Südeck's atrophy of the right foot secondary to a chronic Achilles tendinitis. The condition was complicated by the occurrence of painful muscle spasms in the right leg and incontinence of urine. The spasms had characteristics of both a tonic ambulatory foot response and a spinal flexor reflex. The movements disappeared during sleep. Regional anaesthesia of the right leg made the spasms disappear both in and outside the region of anaesthesia. Backaveraging of the EEG showed the involuntary spasms to be preceded by a cortical potential similar to a readiness potential, indicating a cortical potential similar to a readiness potential, indicating a cortical component in the pathophysiology of the muscle spasms complicating Südeck's atrophy.

Adult↗
PubMed1990

Botulinum toxin treatment of cranial-cervical dystonia, spasmodic dysphonia, other focal dystonias and hemifacial spasm.

In the past five years, 477 patients with various focal dystonias and hemifacial spasm received 3,806 injections of botulinum A toxin for relief of involuntary spasms. A definite improvement with a global rating greater than or equal to 2 on a 0-4 scale, was obtained in all 13 patients with spasmodic dysphonia, 94% of 70 patients with blepharospasm, 92% of 13 patients with hemifacial spasm, 90% of 195 patients with cervical dystonia, 77% of 22 patients with hand dystonia, 73% of 45 patients with oromandibular dystonia, and in 90% of 21 patients with other focal dystonia who had adequate follow up. While the average duration of maximum improvement lasted about 11 weeks after an injection (range seven weeks in patients with hand dystonia to 15 weeks in patients with hemifacial spasm), some patients benefited for over a year. Only 16% of the 941 treatment visits with follow up were not successful. Except for transient focal weakness, there were very few complications or systemic effects attributed to the injections. This study supports the conclusion that botulinum toxin injections are a safe and effective therapy for patients with focal dystonia and hemifacial spasm.

Adolescent↗
PubMed1978

Recognition of renal artery spasm during renal angiography.

During the performance of routine angiography in a community hospital, three different forms of renal arterial spasm were encountered. Renal artery spasm may involve either large or small arteries of the kidneys. The temporary nature of the spasms may be demonstrated by additional angiography which shows no defect. Either a sufficient waiting period for the spasm to relent or the employment of a vasodilating drug through the catheter will usually suffice for this demonstration. Differentiation of spasm from fixed, organic disease is essential to prevent diagnostic error and improper therapy.

Adolescent↗
PubMed2005

A simple and effective regimen for prevention of radial artery spasm during coronary catheterization.

Radial artery spasm occurs frequently during the transradial approach for coronary catheterization. Premedications with nitroglycerin and verapamil have been documented to be effective in preventing radial spasms. Verapamil is relatively contraindicated for some patients with left ventricular dysfunction, hypotension and bradycardia. We would like to know whether nitroglycerin alone is sufficient for the prevention of radial artery spasm. We conducted a randomized controlled trial to compare the spasmolytic effect between heparin alone, heparin plus nitroglycerin and heparin plus nitroglycerin and varapamil during transradial cardiac catheterization. In this study, a total of 406 patients underwent transradial cardiac catheterization and intervention. After successful cannulation and sheath insertion of radial arteries, 133 patients in group A received 3,000 units of heparin, 100 microg of nitroglycerin and 1.25 mg of verapamil via sheath, 135 patients in group B received 3,000 units of heparin and 100 microg of nitroglycerin, and 93 patients in group C received 3,000 units of heparin. Five patients in group A (3.8%), 6 patients in group B (4.4%) and 19 patients in group C (20.4%) showed radial spasms. There is no statistically significant difference between groups A and B (p = 0.804), but there are strong statistically significant differences between groups A and C (p = 0.001) and groups B and C (p = 0.003). Intra-arterial premedication with 100 microg nitroglycerin and 3,000 units of heparin is effective in preventing radial spasms during transradial cardiac catheterization.

Aged↗
PubMed2002

Infantile spasms and Lennox-Gastaut syndrome.

Infantile spasms and Lennox-Gastaut syndrome are rare but are important to child neurologists because of the intractable nature of the seizures and the serious neurologic comorbidities. New antiepileptic drugs offer more alternatives for treating both infantile spasms and Lennox-Gastaut syndrome. Selected children with infantile spasms are candidates for epilepsy surgery. Vagus nerve stimulation, corpus callosotomy, and the ketogenic diet are all options for selected children with Lennox-Gastaut syndrome. The epidemiology, clinical manifestations of the seizures, electroencephalographic characteristics, prognosis, and treatment options are reviewed for infantile spasms and Lennox-Gastaut syndrome. Additional therapies are needed for both infantile spasms and Lennox-Gastaut syndrome as many children fail to achieve adequate seizure control in spite of newer treatments.

Anticonvulsants↗
PubMed2002

Mitochondrial disorders: a potentially under-recognized etiology of infantile spasms.

Infantile spasms represent an age-dependent response of the immature brain to a wide variety of insults. An unselected group of children with infantile spasms were reviewed to determine etiology; a metabolic work-up was undertaken if the etiology was unclear from history and examination (cryptogenic). Of the 56 infants, 34 had a recognizable etiology (symptomatic), 1 had normal development (idiopathic), and 21 had cryptogenic infantile spasms. Among the latter, results of plasma lactate and pyruvate or urine organic acids were available in 17. In 2 infants (monozygotic twins), mitochondrial DNA testing revealed the relatively common A3243G mitochondrial mutation. In these twins and 11 of the remaining 15, body fluid metabolite testing suggested possible defective energy metabolism. Our twins and previous reports suggest that mitochondrial disorders should be considered in the differential diagnosis of infantile spasms. Among our cases remaining cryptogenic, signs of abnormal energy metabolism were prevalent, suggesting that metabolic derangements may be common causes or secondary consequences of infantile spasms.

DNA, Mitochondrial↗
PubMed2006

Topiramate for the treatment of infantile spasms.

Topiramate is a new antiepileptic drug with a broad spectrum of efficacy. Reports on the use of topiramate for treatment of infantile spasms are limited. We prospectively followed 15 children with recently diagnosed infantile spasms treated with topiramate for efficacy and tolerability. Twelve patients had symptomatic infantile spasms, and two patients had cryptogenic infantile spasms. Topiramate was started at a dose of 3 mg/kg/day and titrated up to a dose of 27 mg/kg/day in 2 to 3 weeks. The primary efficacy measure was comparison of the seizure rate during the 2-week baseline with the median seizure rate during the first 2 months of treatment with topiramate. We also compared baseline electroencephalograms (EEGs) with post-treatment EEGs. The median seizure rate reduction during the first 2 months of treatment was 41% (P = .002). Three patients became spasm free (20%), five had > 50% reduction, and three had at least 25% reduction. Four patients did not respond. Three of 15 patients had clearing of hypsarrhythmia. Topiramate was generally well tolerated, with irritability being the most common side effect. Topiramate was efficacious and well tolerated; one patient discontinued the medication because of adverse effects. (J Child Neurol 2006;21:17-19).

Anticonvulsants↗
PubMed1991

Unusual variants of infantile spasms.

During evaluation of video-electroencephalograms (EEGs) performed in our laboratory, we identified 11 patients who had unusual repetitive movements that appeared to be variants of infantile spasms. Movements included yawning, facial grimacing, eye movements, and transient focal motor activity. These symptoms coincided with generalized attenuation, slow-wave transients, or other EEG ictal changes characteristic of infantile spasms. The background EEGs showed true or modified hypsarrhythmia. This series of patients shows that infantile spasms may be extremely subtle and clinically atypical. Patients who have these variants may or may not also have typical infantile spasms. In some patients, the seizures appear to be time-related or medication-induced modifications of more typical infantile spasms.

Cerebral Cortex↗
PubMed1994

Putative neurotransmitter abnormalities in infantile spasms: cerebrospinal fluid neurochemistry and drug effects.

The neuropharmacologic basis of infantile spasms and the mechanism by which adrenocorticotropic hormone (ACTH) exerts its therapeutic effects are unknown. This is a critical review of cerebrospinal fluid neurotransmitters or their metabolites in infantile spasms before and during treatment with ACTH, and of clinical drug trials with drugs acting on neurotransmission. Cerebrospinal fluid studies have shown lower gamma-aminobutyric acid (GABA), ACTH, and 5-hydroxyindoleacetic acid concentrations in patients with infantile spasms compared to controls, elevated lysine and glutamate, variable or no differences in homovanillic acid, 3-methoxy-4-hydroxyphenylglycol, norepinephrine, corticotropin-releasing hormone, and beta-endorphin. Chronic treatment with ACTH in infantile spasms reduces cerebrospinal fluid GABA, beta-endorphin, and somatostatin, increases norepinephrine and tyrosine, and has variable or no effect on homovanillic acid, 3-methoxy-4-hydroxyphenylglycol, 5-hydroxyindoleacetic acid, histamine, and tryptophan. Small therapeutic trials with drugs that act through different neurotransmitters such as methysergide, alpha-methylparatyrosine, various benzodiazepine agonists, and vigabatrin lend some support to a role for GABA and monoamines in infantile spasms. These data, though promising, provide only a hint of potential neurotransmitter disturbances, and more basic and clinical data are needed.

Adrenocorticotropic Hormone↗
PubMed1999

Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review.

The purpose of this report is to review the efficacy and safety of vigabatrin in the treatment of infantile spasms in infants suffering from tuberous sclerosis complex. We reviewed all studies published in the English-language literature investigating the use of vigabatrin in the treatment of infantile spasms. Ten studies gave results for the efficacy of vigabatrin in infantile spasms for infants both with and without underlying diagnoses of tuberous sclerosis. Of the 313 patients without tuberous sclerosis complex, 170 (54%) had complete cessation of their infantile spasms; of the 77 patients with tuberous sclerosis complex, 73 (95%) had complete cessation of their seizures. We conclude that vigabatrin should be considered as first-line monotherapy for the treatment of infantile spasms in infants with either a confirmed diagnosis of tuberous sclerosis or those at high risk, ie, those with a first-degree relative with tuberous sclerosis complex. Paradoxically, in those without tuberous sclerosis complex, vigabatrin might be less efficacious than suggested by studies including patients with tuberous sclerosis complex.

Anticonvulsants↗
PubMed2005

Low-dose cyclobenzaprine versus combination therapy with ibuprofen for acute neck or back pain with muscle spasm: a randomized trial.

OBJECTIVE: This prospective, randomized, open-label, multicenter, community-based study was conducted to compare cyclobenzaprine 5 mg three times daily (TID) orally (CYC5) given for 7 days as monotherapy or in combination with ibuprofen 400 mg TID (CYC5/IBU400) or 800 mg TID (CYC5/IBU800) in adults with acute neck or back pain with muscle spasm. STUDY DESIGN: Eligible patients were 18-65 years old, had cervical or thoracolumbar pain and spasm for < or = 14 days, and, aside from the prescribed study medications, discontinued treatment with all analgesics, anti-inflammatory agents, and skeletal muscle relaxants during the study period. Randomization was 1:1:1 to the three treatment groups. Treatment outcome was assessed after 3 and 7 days of therapy using five patient-rated scales: spasm, pain, patient global impression of change (PGIC), medication helpfulness, and Oswestry Disability Index (ODI). RESULTS: A total of 867 patients provided postbaseline data and were included in the intent-to-treat population (CYC5, n = 288; CYC5/IBU400, n = 286; CYC5/IBU800, n = 293). All three treatment groups demonstrated significant improvements from baseline in PGIC, spasm, pain, ODI, and medication helpfulness (p < 0.001 for all comparisons) after 3 and 7 days of therapy. There were no significant differences in mean PGIC among groups after 3 days of therapy (p = 0.65 for treatment effect) or after 7 days of therapy (primary endpoint; p = 0.41). A PGIC responder analysis of changes from baseline showed that 88% and 93% of patients reported at least mild improvement after 3 and 7 days of therapy, respectively. All three treatments were well tolerated, with no significant differences between treatments regarding the number of adverse events (AEs) reported or number of patients reporting AEs. The most common AEs in all groups were fatigue, somnolence, dizziness, sedation, and nausea. Limitations of this study include an unblinded design and possible introduction of bias into efficacy and safety results by use of a voluntary telephone reporting system. CONCLUSIONS: This randomized, community-based clinical trial demonstrated that combination therapy with cyclobenzaprine 5 mg TID plus ibuprofen was not superior to cyclobenzaprine 5 mg TID alone in adult patients with acute neck and back pain with muscle spasm. All treatments were well tolerated.

Adolescent↗