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Neurological Sciences
Published in: Neurological Sciences 12/2020

Open Access 01-12-2020 | Salaam-Tic | Review Article

West syndrome: a comprehensive review

Authors: Piero Pavone, Agata Polizzi, Simona Domenica Marino, Giovanni Corsello, Raffaele Falsaperla, Silvia Marino, Martino Ruggieri

Published in: Neurological Sciences | Issue 12/2020

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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.
Literature
1.
West WJ (1841) On a peculiar form of infantile convulsions. Lancet 35:724–725
2.
Commission on Classification and Terminology of the International League Against Epilepsy (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30:389–399
3.
Commission on Classification and Terminology of the International League Against Epilepsy (1992) Workshop on infantile spasms. Epilepsia 33:195
4.
Lux AL, Osborne JP (2004) A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group. Epilepsia 45:1416–1428PubMed
5.
Fisher RS, Cross JH, French JA, Higurashi N, Hirsch E, Jansen FE, Lagae L, Moshé SL, Peltola J, Roulet Perez E, Scheffer IE, Zuberi SM (2017) Operational classification of seizure types by the international league against epilepsy: position paper of the ILAE Commission for Classification and Terminology. Epilepsia 58:522–530PubMed
6.
Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, Hirsch E, Jain S, Mathern GW, Moshé SL, Nordli DR, Perucca E, Tomson T, Wiebe S, Zhang YH, Zuberi SM (2017) ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia 58:512–521PubMedPubMedCentral
7.
Mackay MT, Weiss SK, Adams-Webber T, Ashwal S, Stephens D, Ballaban-Gill K, Baram TZ, Duchowny M, Hirtz D, Pellock JM, Shields WD, Shinnar S, Wyllie E, Snead OC 3rd, American Academy of Neurology, Child Neurology Society (2004) Practice parameter: medical treatment of infantile spasms: report of the American Academy of Neurology and the Child Neurology Society. Neurology 62:1668–1681PubMedPubMedCentral
8.
Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshé SL, Nordli D, Plouin P, Scheffer IE (2010) Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE commission on classification and terminology, 2005-2009. Epilepsia 51:676–685PubMed
9.
Caraballo RH, Ruggieri V, Gonzalez G, Cersósimo R, Gamboni B, Rey A, Poveda JC, Dalla Bernardina B (2011) Infantile spams without hypsarrhythmia: a study of 16 cases. Seizure 20:197–202PubMed
10.
11.
Lux AL (2013) Latest American and European updates on infantile spasms. Curr Neurol Neurosci Rep 13:334–341PubMed
12.
Riikonen R, Donner M (1979) Incidence and aetiology of infantile spasms from 1960 to 1976: a population study in Finland. Dev Med Child Neurol 21(3):333–343PubMed
13.
Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, Allen IE, Kapur K, Dlugos DJ, Scheffer IE, Poduri A, Sherr EH (2018) Infantile spasms of unknown cause: predictors of outcome and genotype-phenotype correlation. Pediatr Neurol pii S0887-8994(18):30346–30341
14.
Osborne JP, Lux AL, Edwards SW, Hancock E, Johnson AL, Kennedy CR, Newton RW, Verity CM, O'Callaghan FJ (2010) The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom infantile spasms study (UKISS) on contemporary causes and their classification. Epilepsia 51:2168–2174PubMed
15.
Pavone P, Striano P, Falsaperla R, Pavone L, Ruggieri M (2014) Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013. Brain Dev 36:739–751PubMed
16.
Paciorkowski AR, Thio LL, Dobyns WB (2011) Genetic and biologic classification of infantile spasms. Pediatr Neurol 45:355–367PubMedPubMedCentral
17.
Wirrell EC, Shellhaas RA, Joshi C, Keator C, Kumar S, Mitchell WG (2015) How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium. Epilepsia 56:617–625PubMed
18.
Dulac O, Feingold J, Plouin P, Chiron C, Pajot N, Ponsot G (1993) Genetic predisposition to West syndrome. Epilepsia 34:732–737PubMed
19.
Hemminki K, Li X, Johansson SE, Sundquist K, Sundquist J (2006) Familial risks for epilepsy among siblings based on hospitalizations in Sweden. Neuroepidemiology 27:67–73PubMed
20.
Pavone L, Mollica F, Incorpora G, Pampiglione G (1985) Infantile spasms syndrome in monozygotic twins. A 7-year follow-up. Ital J Neurol Sci 6:503–506PubMed
21.
Coppola G, Grosso S, Verrotti A, D'Aniello A, Pascotto A (2010) Simultaneous onset of infantile spasms in monozygotic twins. Pediatr Neurol 43:127–130PubMed
22.
Kato M, Das S, Petras K, Sawaishi Y, Dobyns WB (2003) Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology 61:267–276PubMed
23.
Wallerstein R, Sugalski R, Cohn L, Jawetz R, Friez M (2008) Expansion of the ARX spectrum. Clin Neurol Neurosurg 110:631–634PubMed
24.
Guerrini R, Filippi T (2005) Neuronal migration disorders, genetics, and epileptogenesis. J Child Neurol 20:287–299PubMed
25.
Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OLD, Archer H, Evans J, Clarke A, Pelka GJ, Tam PPL, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gécz J (2004) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 75:1079–1093PubMedPubMedCentral
26.
Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M (2008) CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 71:997–999PubMed
27.
Masliah-Plachon J, Auvin S, Nectoux J, Fichou Y, Chelly J, Bienvenu T (2010) Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. Am J Med Genet A 152:2110–2111
28.
Deprez L, Weckhuysen S, Holmgren P, Suls A, van Dyck T, Goossens D, del-Favero J, Jansen A, Verhaert K, Lagae L, Jordanova A, van Coster R, Yendle S, Berkovic SF, Scheffer I, Ceulemans B, de Jonghe P (2010) Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology 75:1159–1165PubMed
29.
Saitsu H, Kato M, Okada I, Orii KE, Higuchi T, Hoshino H, Kubota M, Arai H, Tagawa T, Kimura S, Sudo A, Miyama S, Takami Y, Watanabe T, Nishimura A, Nishiyama K, Miyake N, Wada T, Osaka H, Kondo N, Hayasaka K, Matsumoto N (2010) STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia 51:2397–2405PubMed
30.
Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, FujII T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, Saitsu H (2013) Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia 54:1282–1287PubMed
31.
Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hörtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, de Jonghe P, Biskup S, Weckhuysen S (2014) GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol 75:147–154PubMedPubMedCentral
32.
Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G (2015) Molecular characterization of a cohort of 73 patients with infantile spasms syndrome. Eur J Med Genet 58:51–58PubMed
33.
Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR (2008) Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet 83:106–111PubMedPubMedCentral
34.
Morikawa M, Takano K, Motobayashi M, Shiba N, Kosho T, Nakazawa Y, Inaba Y (2017) Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review. Brain and Development 39:804–807PubMed
35.
Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N (2016) WDR45 mutations in three male patients with West syndrome. J Hum Genet 61:653–661PubMed
36.
Millichap JJ, Miceli F, De Maria M et al (2017) Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. Epilepsia 58:10–15
37.
Conroy J, Allen NM, Gorman K, O'Halloran E, Shahwan A, Lynch B, Lynch SA, Ennis S, King MD (2016) Novel European SLC1A4 variant: infantile spasms and population ancestry analysis. J Hum Genet 61:761–764PubMed
38.
Ngoh A, Bras J, Guerreiro R, Meyer E, McTague A, Dawson E, Mankad K, Gunny R, Clayton P, Mills PB, Thornton R, Lai M, Forsyth R, Kurian MA (2016) RARS2 mutations in a sibship with infantile spasms. Epilepsia 57:e97–e102PubMedPubMedCentral
39.
Daida A, Hamano SI, Ikemoto S, Matsuura R, Nakashima M, Matsumoto N, Kato M (2018) Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive. Epileptic Disord 20:313–318PubMed
40.
Takezawa Y, Fujie H, Kikuchi A, Niihori T, Funayama R, Shirota M, Nakayama K, Aoki Y, Sasaki M, Kure S (2018) Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome. Brain and Development 40:934–938PubMed
41.
Jdila MB, Triki C, Rhouma BB, Jomaa RB, Issa AB, Ammar-Keskes L, Kamoun F, Fakhfakh F (2019) A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: comparison with previous truncated mutations and genotype/phenotype correlation. Int J Dev Neurosci 72:22–30PubMed
42.
Hamada N, Ogaya S, Nakashima M, Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N, Momiyama T, Nagata KI (2018) De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. Brain 141:3098–3114PubMed
43.
Peng J, Wang Y, He F, Chen C, Wu LW, Yang LF, Ma YP, Zhang W, Shi ZQ, Chen C, Xia K, Guo H, Yin F, Pang N (2018) Novel West syndrome candidate genes in a Chinese cohort. CNS Neurosci Ther 24:1196–1206PubMedPubMedCentral
44.
Shimojima K, Okamoto N, Ohmura K, Nagase H, Yamamoto T (2018) Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA. Hum Genome Var 5:18007PubMedPubMedCentral
45.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, DDD study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D (2018) PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. J Med Genet 55:104–113PubMed
46.
Neville BG (1972) The origin of infantile spasms: evidence from a case of hydranencephaly. Dev Med Child Neurol 14:644–647PubMed
47.
Tian G, Cristancho AG, Dubbs HA, Liu GT, Cowan NJ, Goldberg EM (2016) A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. Mol Genet Genomic Med 4:599–603PubMedPubMedCentral
48.
Jones K, Weiss SK, Minassian B (2016) Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 -10p15.1 and 6q22.31 duplication. Clin Case Rep 4:675–677PubMedPubMedCentral
49.
Al Dhaibani MA, El-Hattab AW, Ismayl O, Suleiman J (2018) B3GALNT2-related dystroglycanopathy: expansion of the phenotype with novel mutation associated with muscle-eye-brain disease, Walker-Warburg syndrome, epileptic encephalopathy-West syndrome, and sensorineural hearing loss. Neuropediatrics 49:289–295PubMed
50.
Romano C, Tiné A, Fazio G, Rizzo R, Colognola RM, Sorge G, Bergonzi P, Pavone L (1990) Seizures in patients with trisomy 21. Am J Med Genet Supplement 7:298–300
51.
Tapp S, Anderson T, Visootsak J (2015) Neurodevelopmental outcomes in children with down syndrome and infantile spasms. J Pediatr Neurol 13:74–77PubMedPubMedCentral
52.
Cerminara C, Compagnone E, Bagnolo V, Galasso C, Lo-Castro A, Brinciotti M, Curatolo P (2010) Late-onset epileptic spasms in children with Pallister-Killian syndrome: a report of two new cases and review of the electroclinical aspects. J Child Neurol 25:238–245PubMed
53.
Lin CH, Lin WD, Chou IC, Lee IC, Fan HC, Hong SY (2018) Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications. BMC Neurol 18:150PubMedPubMedCentral
54.
Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE (2017) ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. Brain 140:1267–1279PubMed
55.
Trifiletti RR, Incorpora G, Polizzi A, Cocuzza MD, Bolan EA, Parano E (1995) Aicardi syndrome with multiple tumors: a case report with literature review. Brain & Develop 17:283–285
56.
Al Hafid N, Christodoulou J (2015) Phenylketonuria: a review of current and future treatments. Transl Pediatr 4:304–317PubMedPubMedCentral
57.
Alrifai MT, AlShaya MA, Abulaban A, Alfadhel M (2014) Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center. Pediatr Neurol 51:390–397PubMed
58.
Gullotta F, Pavone L, Mollica F, Grasso S, Valenti C (1979) Krabbe's disease with unusual clinical and morphological features. Neuropadiatrie 10:395–400PubMed
59.
Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, Devoto M, Peppercorn J, Bush AI, Sternlieb I, Pirastu M, Gusella JF, Evgrafov O, Penchaszadeh GK, Honig B, Edelman IS, Soares MB, Scheinberg IH, Gilliam TC (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5:344–350PubMed
60.
Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U (2015) Menkes disease in affected females: the clinical disease spectrum. Am J Med Genet A 167A:417–420PubMed
61.
Larson A, Weisfeld-Adams JD, Benke TA, Bonnen PE (2017) Cerebrotendinous xanthomatosis presenting with infantile spasms and intellectual disability. JIMD Rep 35:1–5PubMed
62.
Lee HH, Hur YJ (2016) Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1. Korean J Pediatr 59(Suppl 1):S29–S31PubMedPubMedCentral
63.
Pereira AG, Bahi-Buisson N, Barnerias C, Boddaert N, Nabbout R, de Lonlay P, Kaminska A, Eisermann M (2017) Epileptic spasms in congenital disorders of glycosylation. Epileptic Disord 19:15–23PubMed
64.
van Karnebeek CD, Tiebout SA, Niermeijer J et al (2016) Pyridoxine-dependent epilepsy: an expanding clinical spectrum. Pediatr Neurol 59:6–12PubMed
65.
Gospe SM Jr. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE (2001) Bean LIH, Stephens K, Amemiya A. Pyridoxine-dependent epilepsy. Seattle (WA) editors. University of Washington Seattle; GeneReviews 1993-2017. 7:1–36
66.
Ruggieri M, Pascual-Castroviejo I, Di Rocco C (2008) Neurocutaneous disorders. Phakomatoses and Hamartoneoplastic Syndromes, Wien/New York, Springer
67.
Islam MP, Roach ES (2015) Neurocutaneous syndromes. Handbook of Clinical neurology: 3rd Series No 132 New York, Elsevier
68.
Ruggieri M, Praticò AD (2015) Mosaic neurocutaneous disorders and their causes. Semin Pediatr Neurol 22:207–233PubMed
69.
Curatolo P, Bombardieri R, Jozwiak S (2008) Tuberous sclerosis. Lancet 372:657–668PubMed
70.
Chu-Shore CJ, Major P, Camposano S, Muzykewicz D, Thiele EA (2010) The natural history of epilepsy in tuberous sclerosis complex. Epilepsia 51:1236–1241PubMed
71.
Curatolo P, Moavero R, van Scheppingen J, Aronica E (2018) mTOR dysregulation and tuberous sclerosis-related epilepsy. Expert Rev Neurother 18:185–201PubMed
72.
de Vries PJ, Wilde L, de Vries MC, Moavero R, Pearson DA, Curatolo P (2018) A clinical update “tuberous sclerosis” complex-associated neuropsychiatric disorders (TAND). Am J Med Genet C Semin Med Genet 178:309–320PubMedPubMedCentral
73.
Wilbur C, Sanguansermsri C, Chable H, Anghelina M, Peinhof S (2017) Manifestations of tuberous sclerosis complex: the experience of a provincial clinic. Can J Neurol Sci 44:35–43PubMed
74.
Song J, Swallow E, Said Q, Peeples M, Meiselbach M, Signorovitch J, Kohrman M, Korf B, Krueger D, Wong M, Sparagana S (2018) Epilepsy treatment patterns among patients with tuberous sclerosis complex. J Neurol Sci 391:104–108PubMed
75.
Fohlen M, Taussig D, Ferrand-Sorbets S, Chipaux M, Dorison N, Delalande O, Dorfmüller G (2018) Refractory epilepsy in preschool children with tuberous sclerosis complex: early surgical treatment and outcome. Seizure 60:71–79PubMed
76.
Ji S, Lin W, Wang L, Ni Z, Jin F, Zha X, Fei G (2017) Combined targeting of mTOR and Akt using rapamycin and MK-2206 in the treatment of tuberous sclerosis complex. Cancer 8:555–562
77.
Franz DN, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, Curatolo P, de Vries PJ, Dlugos DJ, Voi M, Fan J, Vaury A, Pelov D, French JA (2018) Everolimus for treatment-refractory seizures in TSC: extension of a randomized controlled trial. Neurol Clin Pract 8:412–420PubMedPubMedCentral
78.
Curatolo P, Franz DN, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, de Vries PJ, Dlugos DJ, Fan J, Ridolfi A, Pelov D, Voi M, French JA (2018) Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex: post-hoc analysis of the phase 3 EXIST-3 trial. Lancet Child Adolesc Health 2:495–504PubMed
79.
Ruggieri M (1999) The different forms of neurofibromatosis. Child Nerv Syst 15:295–308
80.
Monroe CL, Dahiya S, Gutmann DH (2017) Dissecting clinical heterogeneity in neurofibromatosis type 1. Annu Rev Pathol 12:53–57PubMed
81.
Hsieh HY, Fung HC, Wang CJ, Chin SC, Wu T (2011) Epileptic seizures in neurofibromatosis type 1 are related to intracranial tumors but not to neurofibromatosis bright objects. Seizure 20:606–611PubMed
82.
Ruggieri M, Iannetti P, Clementi M, Polizzi A, Incorpora G, Spalice A, Pavone P, Praticò AD, Elia M, Gabriele AL, Tenconi R, Pavone L (2009) Neurofibromatosis type 1 and infantile spasms. Childs Nerv Syst 25:211–216PubMed
83.
Comi AM (2011) Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist. 17:179–184PubMedPubMedCentral
84.
Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J (2013) Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 368:1971–1979PubMedPubMedCentral
85.
Turin E, Grados MA, Tierney E, Ferenc LM, Zabel A, Comi AM (2010) Behavioral and psychiatric features of Sturge-weber syndrome. J Nerv Ment Dis 198:905–913PubMed
86.
Raches D, Hiscock M, Chapieski L (2012) Behavioral and academic problems in children with Sturge-Weber syndrome: differences between children with and without seizures. Epilepsy Behav 25:457–463PubMed
87.
Barbagallo M, Ruggieri M, Incorpora G, Pavone P, Nucifora C, Spalice A, Praticò AD, Polizzi A, Pavone L, Iannetti P (2009) Infantile spasms in the setting of Sturge-Weber syndrome. Childs Nerv Syst 25:111–118PubMed
88.
Ruggieri M, Pavone L (2000) Hypomelanosis of Ito: clinical syndrome or just phenotype? J Child Neurol 15:635–644PubMed
89.
Pavone P, Praticò AD, Ruggieri M, Falsaperla R (2015) Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. Neurol Sci 36:1173–1180PubMed
90.
Ruggieri M, Tigano G, Mazzone D, Tinè A, Pavone L (1996) Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens). Neurology 45:485–492
91.
Shandra O, Moshé SL, Galanopoulou AS (2017) Inflammation in epileptic encephalopathies. Adv Protein Chem Struct Biol 108:59–84PubMedPubMedCentral
92.
Suleiman J, Brenner T, Gill D et al (2011) Immune-mediated steroid-responsive epileptic spasms and epileptic encephalopathy associated with VGKC-complex antibodies. Dev Med Child Neurol 53:1058–1060PubMed
93.
Dulac O (2001) What is West syndrome? Brain and Development 23:447–452PubMed
94.
Wilmshurst JM, Ibekwe RC, O'Callaghan FJK (2017) Epileptic spasms −175 years on: trying to teach an old dog new tricks. Seizure 44:81–86PubMed
95.
96.
Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R (2018) Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder. Seizure 60:91–93PubMed
97.
Jeavons PM (1985) West syndrome: infantile spasms in epileptic syndrome in infancy, childhood and adolescence. Roger S, Dravet C, Bureau M, Dreifuss FE and Wolf P. Libbey Eurotext J LTD Ed. pp42–50
98.
Aicardi J, Chevrie JJ (1978) Les spasms infantiles. Arch Fr Pédiatr 35:1015–1023PubMed
99.
Saporito MAN, Vitaliti G, Pavone P, Di Stefano G, Striano P, Caraballo RH, Falsaperla R (2017) Ictal blinking, an under-recognized phenomenon: our experience and literature review. Neuropsychiatr Dis Treat 13:1435–1439PubMedPubMedCentral
100.
Hussain SA, Lay J, Cheng E, Weng J, Sankar R, Baca CB (2017) Recognition of infantile spasms is often delayed: the ASSIST study. J Pediatr 190:215–221PubMed
101.
Wang L, Yarosz S, Aghamoosa H, Grinspan Z, Patel AD (2018) Validating an algorithm to identify patients with infantile spasms using medical claims. J Child Neurol 33:639–641PubMed
102.
Xue J, Qian P, Li H et al (2016) Atonic elements combined or uncombined with epileptic spasm in infantile spasms. Clin Neurophysiol 128:220–226PubMed
103.
Caraballo RH, Fortini S, Reyes G (2016) Epileptic spasms in clusters and associated syndromes other than West syndrome: a study of 48 patients. Epilepsy Res 123:29–35PubMed
104.
Caraballo RH, Falsaperla R, Gutierrez R, Reyes Valenzuela G, Pavone P, Fortini S, Pochada J (2017) Single-epileptic spasms with or without hypsarrhythmia: a study of 16 patients. Journal of Pediatric Epilepsy 123:149–155
105.
Tarodo SG, Nguyen T, Ranza E, Vulliémoz S, Korff CM (2018) A triad of infantile spasms, nystagmus and a focal tonic seizure. Epileptic Disord 20:295–300PubMed
106.
Falsaperla R, Marino SD, Marino S, Pavone P (2018) Electroclinical pattern and epilepsy evolution in an infant with Miller-Dieker syndrome. J Pediatr Neurosci 13:302–307PubMedPubMedCentral
107.
Berg AT, Chakravorty S, Koh S, Grinspan ZM, Shellhaas RA, Saneto RP, Wirrell EC, Coryell J, Chu CJ, Mytinger JR, Gaillard WD, Valencia I, Knupp KG, Loddenkemper T, Sullivan JE, Poduri A, Millichap JJ, Keator C, Wusthoff C, Ryan N, Dobyns WB, Hegde M (2018) Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. PLoS One 13:e0193599PubMedPubMedCentral
108.
Nairai H, Beal J, Galanopoulou AS et al (2017) Scalp EEG Ictal gamma and beta activity during infantile spasms: evidence of focality. Epilepsia 58:882–892
109.
Harini C, Sharda S, Bergin AM, Poduri A, Yuskaitis CJ, Peters JM, Rakesh K, Kapur K, Pearl PL, Prabhu SP (2018) Detailed magnetic resonance imaging (MRI) analysis in infantile spasms. J Child Neurol 33:405–412PubMed
110.
O’Callaghan FJK, Edwards SW, Alber FD, Hancock E, Johnson AL, Kennedy CR, Likeman M, Lux AL, Mackay M, Mallick AA, Newton RW, Nolan M, Pressler R, Rating D, Schmitt B, Verity CM, Osborne JP, Participating investigators (2017) Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial. Lancet Neurol 16:33–42PubMed
111.
Capal JK, Bernardino-Cuesta B, Horn PS, Murray D, Byars AW, Bing NM, Kent B, Pearson DA, Sahin M, Krueger DA, TACERN Study Group (2017) Influence of seizures on early development in tuberous sclerosis complex. Epilepsy Behav 70:245–252PubMedPubMedCentral
112.
Yin J, Lu Q, Yin F, Wang Y, He F, Wu L, Yang L, Deng X, Chen C, Peng J (2017) Effectiveness and safety of different once-daily doses of adrenocorticotropic hormone for infantile spasms. Paediatr Drugs 19:357–365PubMed
113.
Shumiloff NA, Lam WM, Manasco KB (2013) Adrenocorticotropic hormone for the treatment of West syndrome in children. Ann Pharmacother 47:744–754PubMed
114.
D'Alonzo R, Rigante D, Mencaroni E, Esposito S (2018) West syndrome: a review and guide for paediatricians. Clin Drug Investig 38:113–124PubMed
115.
Wanigasinghe J, Arambepola C, Ranganathan SS, Sumanasena S (2017) Randomized, single-blind, parallel clinical trial on efficacy of oral prednisolone versus intramuscular corticotropin: a 12-month assessment of spasm control in West syndrome. Pediatr Neurol 76:14–19PubMed
116.
Gowda VK, Narayanaswamy V, Shivappa SK, Benakappa N, Benakappa A (2019) Corticotrophin-ACTH in comparison to prednisolone in West syndrome - a randomized study. Indian J Pediatr 86(2):165–170PubMed
117.
Kunnanayaka V, Jain P, Sharma S, Seth A, Aneja S (2018) Addition of pyridoxine to prednisolone in the treatment of infantile spasms: a pilot, randomized controlled trial. Neurol India 66:385–390PubMed
118.
119.
120.
Song JM, Hahn J, Kim SH, Chang MJ (2017) Efficacy of treatments for infantile spasms: a systematic review. Clin Neuropharmacol 40:63–84PubMed
121.
Elterman RD, Shields WD, Bittman RM, Torri SA, Sagar SM, Collins SD (2010) Vigabatrin for the treatment of infantile spasms: final report of a randomized trial. J Child Neurol 25:1340–1347PubMed
122.
Sun LR, Bosemani T, Smith-Hicks CL (2017) Neuroimaging abnormalities in a child with infantile spasms on high-dose vigabatrin. Pediatr Neurol 67:109–110PubMed
123.
Hussain SA, Tsao J, Li M, Schwarz MD, Zhou R, Wu JY, Salamon N, Sankar R (2017) Risk of vigabatrin-associated brain abnormalities on MRI in the treatment of infantile spasms is dose-dependent. Epilepsia 58:674–682PubMed
124.
Iyer A, Appleton R (2016) Improving outcomes in infantile spasms: role of pharmacotherapy. Paediatr Drugs 18:357–366PubMed
125.
Riikonen R (2017) Combination therapy for treatment of infantile spasms. Lancet Neurol 16:19–20PubMed
126.
Ko A, Youn SE, Chung HJ, Kim SH, Lee JS, Kim HD, Kang HC (2018) Vigabatrin and high-dose prednisolone therapy for patients with West syndrome. Epilepsy Res 145:127–133PubMed
127.
Doumlele K, Conway E, Hedlund J, Tolete P, Devinsky O (2016) A case report on the efficacy of vigabatrin analogue (1S, 3S)-3-amino-4-difluoromethylenyl-1-cyclopentanoic acid (CPP-115) in a patient with infantile spasms. Epilepsy Behav Case Rep 6:67–69PubMedPubMedCentral
128.
Auvichayapat N, Tassniyom S, Treerotphon S, Auvichayapat P (2007) Treatment of infantile spasms with sodium valproate followed by benzodiazepines. J Med Assoc Thail 90:1809–1814
129.
Hynynen J, Komulainen T, Tukiainen E, Nordin A, Arola J, Kälviäinen R, Jutila L, Röyttä M, Hinttala R, Majamaa K, Mäkisalo H, Uusimaa J (2014) Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation. Liver Transpl 20:1402–1412PubMed
130.
Knupp KG, Leister E, Coryell J, Nickels KC, Ryan N, Juarez-Colunga E, Gaillard WD, Mytinger JR, Berg AT, Millichap J, Nordli DR Jr, Joshi S, Shellhaas RA, Loddenkemper T, Dlugos D, Wirrell E, Sullivan J, Hartman AL, Kossoff EH, Grinspan ZM, Hamikawa L, the Pediatric Epilepsy Research Consortium (2016) Response to second treatment after initial failed treatment in a multicenter prospective infantile spasms cohort. Epilepsia 57:1834–1842PubMedPubMedCentral
131.
Mudigoudar B, Weatherspoon S, Wheless JW (2016) Emerging antiepileptic drugs for severe pediatric epilepsies. Semin Pediatr Neurol 23:167–179PubMed
132.
Tibussek D, Klepper J, Korinthenberg R et al (2016) Treatment of infantile spasms: report of the interdisciplinary guideline committee coordinated by the German-speaking society for neuropediatrics. Neuropediatrics 47:139–150PubMed
133.
Hamano SI, Nagai T, Matsuura R, Hirata Y, Ikemoto S, Oba A, Hiwatari E (2018) Treatment of infantile spasms by pediatric neurologists in Japan. Brain and Development 40:685–692PubMed
134.
Demarest ST, Shellhaas RA, Gaillard WD, Keator C, Nickels KC, Hussain SA, Loddenkemper T, Patel AD, Saneto RP, Wirrell E, Sánchez Fernández I, Chu CJ, Grinspan Z, Wusthoff CJ, Joshi S, Mohamed IS, Stafstrom CE, Stack CV, Yozawitz E, Bluvstein JS, Singh RK, Knupp KG, the Pediatric Epilepsy Research Consortium (2017) The impact of hypsarrhythmia on infantile spasms treatment response: observational cohort study from the National Infantile Spasms Consortium. Epilepsia 58:2098–2103PubMedPubMedCentral
135.
Ohtsuka Y (2018) Efficacy and safety of vigabatrin in Japanese patients with infantile spasms: primary short-term study and extension study. Epilepsy Behav 78:134–141PubMed
136.
Franz DN, Belousova E, Sparagana S, Bebin EM, Frost MD, Kuperman R, Witt O, Kohrman MH, Flamini JR, Wu JY, Curatolo P, de Vries PJ, Berkowitz N, Niolat J, Jóźwiak S (2016) Long-term use of everolimus in patients with tuberous sclerosis complex: final results from the EXIST-1 study. PLoS One 11:e0158476PubMedPubMedCentral
137.
Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC, PhD for the NISC Comparative Sequencing Program, Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA (2014) GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann Clin Transl Neurol 1(3):190–198PubMedPubMedCentral
138.
Kalappa BI, Soh H, Duignan KM, Furuya T, Edwards S, Tzingounis AV, Tzounopoulos T (2015) Potent KCNQ2/3-specific channel activator suppresses in vivo epileptic activity and prevents the development of tinnitus. J Neurosci 35(23):8829–8842PubMedPubMedCentral
139.
Riikonen R (1996) Long-term otucome of West syndrome: a study of adults with a history of infantile spasms. Epilepsia 37(4):367–372PubMed
140.
Riikonen R (2020) Infantile spasms: outcome in clinical studies. Pediatr Neurol (20):30041–30042
141.
Pies NJ, Beardsmore CW (2003) West & West syndrome--a historical sketch about the eponymous doctor, his work and his family. Brain and Development 25(2):84–101PubMed
142.
Strasser L, Downes M, Kung J, Cross JH, De Haan M (2018) Prevalence and risk factors for autism spectrum disorder in epilepsy: a systematic review and meta-analysis. Dev Med Child Neurol 60(1):19–29PubMed
143.
Riikonen R, Amnell G (1981) Psychiatric disorders in children with earlier infantile spasms. Dev Med Child Neurol 23(6):747–760PubMed
144.
Riikonen R (2001) Long-term outcome of patients with West syndrome. Brain and Development 23(7):683–687PubMed
145.
146.
Granström ML (2003) Prognosis of infantile spasms in: Jallon P. Esher J. Prognosis of epilepsies. John Libbey Eurotext, Surrey, U.K2003: 210-220
147.
Riikonen R (1982) A long-term follow-up study of 214 children with the syndrome of infantile spasms. Neuropediatrics 13(1):14–23PubMed
148.
Wong M (2013) A critical review of mTOR inhibitors and epilepsy: from basic science to clinical trials. Expert Rev Neurother 13:657–669PubMed
149.
GulMert G, Herguner MO, Incecik F, Altunbasak S, Sahan D, Unal I (2017) Risk factors affecting prognosis in infantile spasm. Int J Neurosci 127(11):1012–1018
Metadata
Title
West syndrome: a comprehensive review
Authors
Piero Pavone
Agata Polizzi
Simona Domenica Marino
Giovanni Corsello
Raffaele Falsaperla
Silvia Marino
Martino Ruggieri
Publication date
01-12-2020
Publisher
Springer International Publishing
Published in
Neurological Sciences / Issue 12/2020
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-020-04600-5

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