West syndrome: a comprehensive review
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REVIEW ARTICLE
West syndrome: a comprehensive review Piero Pavone 1 & Agata Polizzi 2 & Simona Domenica Marino 3 & Giovanni Corsello 4 & Raffaele Falsaperla 4 & Silvia Marino 3 & Martino Ruggieri 5 Received: 7 December 2019 / Accepted: 14 July 2020 # The Author(s) 2020
Abstract Since its first clinical description (on his son) by William James West (1793–1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as “West syndrome”, new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances. Keywords West syndrome . Infantile spasms . Epileptic spasms . Infantile spasms syndrome . Etiology . Genetics
Introduction * Martino Ruggieri [email protected] 1
Unit of Clinical Pediatrics, AOU “Policlinico”, PO “G. Rodolico”, University of Catania, Catania, Italy
2
Chair of Pediatrics, Department of Educational Sciences, University of Catania, Catania, Italy
3
Unit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU “Policlinico”, PO “San Marco”, University of Catania, Catania, Italy
4
Unit of Pediatrics and Neonatal Intensive Therapy, Department of Promotion of Maternal and Infantile and Internal Medicine Health, and Specialist Excellence “G. D’Alessandro”, University of Palermo, Palermo, Italy
5
Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University
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