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Intravenous versus intramuscular route of administration of natural adrenocorticotropic hormone in infantile epileptic spasm syndrome.
Transl 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 PDFVentricular tachycardia induced by adrenocorticotropic hormone therapy in infantile epileptic spasms syndrome: A case report.
Seizure
January 2025
Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.
Child Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
View Article and Find Full Text PDFOutcomes following resective and disconnective strategies in the treatment of epileptic spasms: a systematic review of the literature and individual patient data meta-analysis.
Front Neurol
December 2024
Brain and Development Research Axis, Azrieli CHU Ste-Justine Research Center, Montreal, QC, Canada.
Epileptic spasms (ES) are a unique seizure type typically presenting in the form of infantile epileptic spasms syndrome (IESS) with characteristic hypsarrhythmia on scalp EEG and a preponderance with developmental delay or regression. While pharmacotherapy is the mainstay of treatment, surgical options, including disconnective or resective procedures, are increasingly recognized as viable therapeutic options for recurrent or persistent ES. However, limited data on safety, effectiveness, and prognostic factors hinder informed decision-making regarding surgery indications, timing, and intervention type.
View Article and Find Full Text PDFShort-Term Effectiveness and Tolerability of Vigabatrin Therapy in Infantile Epileptic Spasms Syndrome.
Indian J Pediatr
January 2025
Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India.
The study evaluated the short-term effectiveness and tolerability of vigabatrin therapy in children with infantile epileptic spasms syndrome (IESS). Children with IESS were enrolled within two weeks of initiation of vigabatrin and prospectively followed up to 12 wk for complete cessation of epileptic spasms (ES) and occurrence of adverse events. Of 107 children studied, there was a preponderance of structural etiology (82.
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