Development of epileptic spasms in infants with vitamin B deficiency is uncommon. In some cases, infants presenting with epileptic spasms have been found to have concurrent vitamin B deficiency. Treatment with vitamin B and adrenocorticotropic hormone (ACTH) resulted in resolution of epileptic spasms. In others, epileptic spasms have developed during recovery from vitamin B deficiency. Treatment with ACTH or other seizure medications resulted in resolution of epileptic spasms, although response has been less predictable. We describe three infants who initially presented with clinical and laboratory features of vitamin B deficiency. Treatment with vitamin B resulted in rapid resolution of symptoms. However, recovery was interrupted by the development of epileptic spasms. All infants showed hypsarrhythmia on electroencephalography. Treatment with prednisolone, with or without other antiseizure medications, resulted in slow resolution of spasms. Cognitive and language delays were noted in two infants. Epileptic spasms may supervene during recovery from vitamin B deficiency affecting outcomes.
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http://dx.doi.org/10.1016/j.pediatrneurol.2023.06.005 | DOI Listing |
Front Pediatr
January 2025
Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.
Introduction: Infantile Epileptic Spasms Syndrome (IESS) typically has a profound impact on the neurodevelopment of patients. The study on IESS indicates possible geographical variation in etiology and a lack of data from China. Our study intends to summarize the etiology of IESS and analyze its characteristics.
View Article and Find Full Text PDFJ Child Neurol
January 2025
Department of Neuropediatrics, University Hospital of Schleswig Holstein, Kiel, Germany.
Although many reports have described the characteristics of Williams-Beuren syndrome, few specifically analyzed epilepsy in patients with Williams-Beuren syndrome. In this retrospective study, we map the prevalence, types, and prognosis of epileptic seizures in a large cohort of 589 patients with Williams-Beuren syndrome, as well as associations between deletions of the membrane-associated guanylate kinase inverted-2-gene (2 gene), which is associated with infantile spasms (IS), and epilepsy in patients with Williams-Beuren syndrome.Our findings indicate that the incidence of epilepsy in patients with Williams-Beuren syndrome is approximately 1.
View Article and Find Full Text PDFEpilepsy Behav Rep
March 2025
Section of Pediatric Neurology, Department of Pediatrics, The University of Chicago, Chicago, IL, United States.
Dynein Cytoplasmic 1 Heavy chain 1 (-related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments.
View Article and Find Full Text PDFTransl Pediatr
December 2024
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: Infantile epileptic spasm syndrome (ISS) is an age-dependent epileptic condition typically emerging within the first year of life, and adrenocorticotropic hormone (ACTH) has been established as a first-line therapeutic drug for the ISS since 1958. However, there is a notable variation in ACTH dosage practices worldwide, with intramuscular injection being common in some countries and intravenous drip preferred in others, including China. This study aimed to identify a preferable administration modality for ACTH-based utilization in treating ISS.
View Article and Find Full Text PDFSeizure
January 2025
Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.
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