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nodding spasm [keywords]
- Epilepsy in Children With Menkes Disease: A Systematic Review of Literature. [JOURNAL ARTICLE]
- J Child Neurol 2014 Jul 17.
Menkes disease is a lethal multisystemic disorder of copper metabolism characterized by connective tissue abnormalities, progressive neurodegeneration and peculiar "kinky hair." Epilepsy is one of the main clinical features of this disease but it has been described in detail by only a few authors. Most patients develop seizures from 2 to 3 months of age, accompanied by a neurodevelopmental regression. The history of epilepsy is usually characterized by 3 stages: an early stage with focal clonic seizures and status epilepticus, an intermediate stage with infantile spasms, and a late stage with multifocal, myoclonic, and tonic seizures. At the onset, epilepsy can be controlled with anticonvulsant therapy, whereas with the progression of disease, it becomes extremely resistant to all antiepileptic drugs. In this article, we analyze clinical and electroencephalographic (EEG) characteristics of epilepsy in patients with this syndrome.
- Changes in the ERG d-wave with vigabatrin treatment in a pediatric cohort. [JOURNAL ARTICLE]
- Doc Ophthalmol 2014 Jul 10.
Vigabatrin (VGB), a treatment for the childhood epilepsy, infantile spasms (IS), is implicated in visual field constriction. Electroretinograms (ERGs) are used as a substitute for visual field testing in infants. We use the VGB-associated ERG reduction (VAER), defined as reduction in age-corrected light adapted 30 Hz flicker amplitude from a pre-treatment measurement in the absence of other retinal defects, as an indicator of retinal toxicity resulting from VGB use. The d-wave ERG response is predominantly the result of OFF-bipolar cell depolarization response to light offset. The purpose of this study is to evaluate the ERG d-wave response as a marker for VAER toxicity in an infant population.One hundred children with IS treated with VGB (median age at baseline: 7.6 months; range 1.7-38.4) were tested for the cone-OFF response elicited to a 250 cd s m(2) flash with 200 ms duration (long flash ERG). Diagnosis of VAER requires baseline testing of the flicker ERG and at least one follow up ERG; Fifty-one patients fulfilled this criteria. Fifty-eight children received the long flash ERG at baseline. Thirteen retinally normal controls with a median age of 32 months (5.7-65) were also tested. Amplitude and implicit time of the d-wave response were measured manually.Longer duration of treatment was associated with reduced d-wave amplitude (ANOVA p < 0.05) in patients taking VGB. Nine patients demonstrated VAER during the course of the study. D-wave amplitude was reduced in the IS group with VAER compared to those without VAER (p < 0.05).Vigabatrin associated retinal defects may be reflected in reduction of the cone d-wave amplitude.
- Proteomic analysis on infantile spasm and prenatal stress. [JOURNAL ARTICLE]
- Epilepsy Res 2014 Jun 14.
Infantile spasms (IS) are an age-dependent epileptic encephalopathy with severe cognitive dysfunction. Prenatal stress (PS) has been reported to increase the risk for IS through clinical and animal studies. We aim to investigate the mechanism of brain damage caused by IS and the effect of PS. Animals were divided into 4 groups: PS-spasm model, PS-saline control, NS-spasm model, and saline control. N-methyl-d-aspartate (NMDA) was used to induce spasm and swimming in cold water was used to induce PS. A proteomics-based approach was used to compare the NS-spasm model vs. saline control, and PS-spasm model vs. NS-spasm model. Gel image analysis was followed by mass spectrometric protein identification and bioinformatics analysis. We observed an increased spasm frequency (t=8.65, P<0.001), and a shorter latency period (t=3.96, P<0.001) in the PS-spasm model vs. the NS-spasm model. In the NS-spasm model vs. saline control, the main differentially expressed proteins were CFL1, PKM2, PRPS2, DLAT, CKB, DPYSL3, and SNAP25. In the PS-spasm model vs. NS-spasm model, MDH1 and YWHAZ were differentially expressed. YWHAZ was directly connected with CFL1 in protein networks. YWHAZ and CFL1 were further validated by Western blot analysis. The biological function of differentially expressed proteins indicates the pathogenesis of IS maybe relevant to energy metabolism, brain development, and neural remodeling. PS aggravated seizures in the NMDA-induced spasm model, YWHAZ, and CFL1 may be involved.
- Infantile Spasms - Evidence Based Medical Management. [JOURNAL ARTICLE]
- Indian J Pediatr 2014 Jul 2.
Infantile spasms constitute significant burden of refractory epilepsy in children. The first line treatment choice varies at different centres. The author presents concise evidence based update on medical management of infantile spasms.
- Adrenocorticotropic Hormone Versus Prednisolone in the Treatment of Infantile Spasms Post Vigabatrin Failure. [JOURNAL ARTICLE]
- J Child Neurol 2014 Jun 25.
The Child Neurology Society/American Academy of Neurology practice parameter has recommended adrenocorticotropic hormone or vigabatrin in the short-term treatment of infantile spasms. When vigabatrin is unavailable or ineffective and adrenocorticotropic hormone is not a treatment option because of the prohibitive cost, other forms of corticosteroids have been considered in the treatment of infantile spasms. This retrospective study reviewed the Hospital for Sick Children's experience with the short-term effectiveness of prednisolone versus adrenocorticotropic hormone in patients with infantile spasms who have failed vigabatrin. The results showed that while adrenocorticotropic hormone was more likely to lead to short-term spasm freedom, there was no difference in the likelihood of longer-term spasm resolution without relapse. These findings can guide clinicians in the treatment of infantile spasms post vigabatrin failure.
- AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset. [JOURNAL ARTICLE]
- Neurogenetics 2014 Jun 24.
We report the second family with AIMP1 deficiency, due to a homozygous truncating AIMP1 (g.107248613 C > T) mutation. This female showed early-onset developmental arrest, intractable epileptic spasms, microcephaly, and a rapid clinical course leading to premature death, associated with cerebral atrophy and myelin deficiency on brain MRI. Clinical and neuroimaging findings are consistent with a primary neuronal degenerative disorder, rather than with the previously reported Perlizaeus-Merzbacher-like phenotype. Given its critical role in neurofilament assembly 16, impaired myelin formation is due to neuronal/axonal dysfunction. We propose that AIMP1 deficiency be added to the differential diagnosis of infantile onset, progressive neurodegenerative disease.
- Psychomotor development following early treatment of severe infantile vitamin B12 deficiency and West syndrome - Is everything fine? A case report and review of literature. [JOURNAL ARTICLE]
- Brain Dev 2014 Jun 14.
Severe infantile vitamin B12 deficiency is occasionally reported in developed countries due to maternal nutritional deficiency. The clinical manifestation comprises megaloblastic anemia and neurodevelopmental delay culminating in demyelination and brain atrophy. Few case reports have documented manifestation of West syndrome.We report the 8-year long-term follow-up on a 6-month-old exclusively breast-fed girl with serious vitamin B12 deficiency secondary to undiagnosed maternal pernicious anemia. MRI revealed cerebral atrophy and delayed myelination. Strikingly, initial vitamin B12-mediated improvement of neurological and hematological findings was followed by temporary manifestation of infantile spasms requiring anticonvulsive therapy.Seizures soon dissolved, EEG and MRI scan normalized and developmental catch-up occurred. At the age of 8years, the girl is symptom-free and visits primary school illustrating remarkable recovery of severe neurodevelopmental delay and symptomatic West syndrome.Infantile vitamin B12 deficiency has to be considered in the differential diagnosis of mental retardation and infantile spasms, especially if maternal nutritional deficiency might be suspected. Early treatment seems to be crucial for the prevention of irreversible brain damage.
- Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations. [Journal Article]
- Pediatr Neurol 2014 Jul; 51(1):170-5.
Microdeletion of chromosome 9q33q34 is an emerging disease disorder associated with early infantile epileptic encephalopathy, intellectual disability, and a variety of movement disorders.We describe a male infant with early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome) who carried a de novo 2.0-Mb microdeletion in chromosome 9q33q34, including STXBP1. The previously reported examples of 9q33q34 microdeletion including STXBP1 are reviewed.The patient developed infantile spasms at 4 months of age, and these were refractory to multiple antiepileptic drugs. He also developed severe dystonia during infancy, rotatory nystagmus, and nephroureteral malformations. Immunoglobulin and clobazam administered at 11 months were effective for the spasms, but profound psychomotor retardation remained. A comparative genomic hybridization array analysis and the fluorescence in situ hybridization analysis revealed a de novo 2.0-Mb microdeletion in chromosome 9q33q34, which encompasses STXBP1, ENG, SPTAN1, and 52 other genes. A total of 14 patients (13 from the literature) with a 9q33q24 microdeletion including STXBP1 were reviewed, five of them displayed early infantile epileptic encephalopathy with suppression-burst, and six of them had early-onset epilepsy but not early infantile epileptic encephalopathy. Dystonia has been previously described in 9q33q34 deletions involving TOR1A but not STXBP1. Neither abnormal eye movements nor nephroureteral malformations has been previously described.This patient adds unique clinical presentations of neurological and nephroureteral abnormalities to the features of 9q33q34 microdeletion.
- Oral corticosteroids versus adrenocorticotropic hormone for infantile spasms-an unfinished story. [Editorial]
- Pediatr Neurol 2014 Jul; 51(1):13-4.
- Severity of manifestations in tuberous sclerosis complex in relation to genotype. [JOURNAL ARTICLE]
- Epilepsia 2014 Jun 10.
Patients with tuberous sclerosis complex (TSC) commonly present with significant neurologic deficits, including seizures, autism, and intellectual disability. Previous evidence suggests that the TSC2 mutation genotype may be associated with a more severe disease phenotype. This study evaluates the association of the TSC1 and TSC2 genotype with patient and disease characteristics in a retrospective review of a large TSC Natural History Database consisting of 919 patients with TSC.Univariate logistic regression was conducted to evaluate the association of the TSC1 and TSC2 gene mutations with patient and disease characteristics.As compared to patients with the TSC1 mutation, patients with the TSC2 mutation were younger (p = 0.02), more likely to have partial epilepsy (odds ratio (OR) 1.74, p = 0.0015), complex partial seizures (OR 2.03, p = 0.02), infantile spasms (IS) (OR 1.67, p = 0.01), subependymal giant-cell astrocytomas (SEGAs) (OR 1.64, p = 0.01), and intellectual disability (OR 2.90, p = 0.0002).The clinical presentation of TSC is highly variable and not well understood. Our findings confirm and supplement existing literature that TSC2 mutation is likely to be associated with a more severe, earlier presenting TSC phenotype, including infantile spasms. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.