The Contribution of Argentine Neurologists to the Description of Infantile Epileptic Spasms Syndrome and Related Epileptic and Nonepileptic Neurological Conditions

Alberto Espeche; Gabriela Reyes Valenzuela; Roberto Caraballo

doi:10.1055/s-0043-1771342

Journal of Pediatric Epilepsy, Inhaltsverzeichnis

Journal of Pediatric Epilepsy 2023; 12(04): 117-121
DOI: 10.1055/s-0043-1771342

Review Article

The Contribution of Argentine Neurologists to the Description of Infantile Epileptic Spasms Syndrome and Related Epileptic and Nonepileptic Neurological Conditions

Alberto Espeche

¹Department of Neurology, Hospital Materno Infantil, Salta, Argentina

,

Gabriela Reyes Valenzuela

²Department of Neurology, Hospital de Pediatría “Prof. Dr. Juan P Garrahan”, Buenos Aires, Argentina

,

Roberto Caraballo

²Department of Neurology, Hospital de Pediatría “Prof. Dr. Juan P Garrahan”, Buenos Aires, Argentina

› Institutsangaben

Abstract

In the latest report of the International League against Epilepsy Task Force on Nosology and Definitions on the methodology for classification of epilepsy syndromes, the term infantile epileptic spasms syndrome (IESS) was chosen for what were previously called infantile spasms, including West syndrome and infantile epileptic spasms without hypsarrhythmia.

Different Argentine groups have contributed to the description of IESS and related epileptic and nonepileptic syndromes. Here we aimed to review studies by different Argentine authors that contributed to the development of the definitions of IESS and its most important benign differential diagnosis.

In 1949, Vazquez and Turner from Argentina first recognized a clinical-electroencephalographic correlate of the entity described by Dr. West defining the triad of epileptic spasms, diffuse paroxysmal cerebral dysrhythmia, and psychomotor impairment. Subsequently, in 1976 Fejerman first reported 10 neurologically normal infants with recurrent spells that resembled epileptic spasms. As neurological status, electroencephalogram (EEG), and outcomes were normal, these infants were clearly different from those with West syndrome or epileptic spasms without hypsarrhythmia.

Since 2003, Caraballo et al have published different series of patients with epileptic spasms in clusters without hypsarrhythmia occurring in infancy. Before the onset of the epileptic spasms in clusters, these infants were often normal and they had focal or generalized EEG abnormalities.

Publication in local journals in languages other than English may lead to the loss of important data found by colleagues from different geographic areas. Therefore, this should be followed by publication in English in peer-reviewed journals.

Keywords

Argentina - epileptic spasms - Fejerman - infantile - nonepileptic - West syndrome

Volltext

Referenzen

References
1 Wirrell EC, Nabbout R, Scheffer IE. et al. Methodology for classification and definition of epilepsy syndromes with list of syndromes: report of the ILAE Task Force on Nosology and Definitions. Epilepsia 2022; 63 (06) 1333-1348
2 Zuberi SM, Wirrell E, Yozawitz E. et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 2022; 63 (06) 1349-1397
3 Lux AL, Osborne JP. A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group. Epilepsia 2004; 45 (11) 1416-1428
4 Fusco L, Vigevano F. Ictal clinical electroencephalographic findings of spasms in West syndrome. Epilepsia 1993; 34 (04) 671-678
5 Caraballo RH, Fejerman N, Bernardina BD. et al. Epileptic spasms in clusters without hypsarrhythmia in infancy. Epileptic Disord 2003; 5 (02) 109-113
6 Dalla Bernardina B, Fontana E, Osanni E, Opri R, Darra F. In: Guzzetta F, Dalla Bernardina B, Guerrini R. eds. Progress in Epileptic Spasms and West syndrome. Montrouge, France: John Libbey Eurotext; 2007
7 Caraballo RH, Fortini S, Reyes G, Carpio Ruiz A, Sanchez Fuentes SV, Ramos B. Epileptic spasms in clusters and associated syndromes other than West syndrome: a study of 48 patients. Epilepsy Res 2016; 123: 29-35
8 Vazquez H, Turner M. Epilepsy in generalized flexion. Arch Argent Pediatr 1951; 35: 111-141
9 Caraballo RH, Ruggieri V, Gonzalez G. et al. Infantile spams without hypsarrhythmia: a study of 16 cases. Seizure 2011; 20 (03) 197-202
10 Caraballo RH, Flesler S, Noli D, Soraru A, Cersósimo R, Bartuluchi M. Symptomatic epileptic spasms in clusters without hypsarrhythmia: surgical management of two cases. Childs Nerv Syst 2013; 29 (01) 145-148
11 Eling P, Renier WO, Pomper J, Baram TZ. The mystery of the Doctor's son, or the riddle of West syndrome. Neurology 2002; 58 (06) 953-955
12 West WJ. On a peculiar form of infantile convulsions. Lancet 1841; 1: 724-725
13 Gibbs FA, Gibbs EL. Epilepsy. Vol. 2. Atlas of Electroencephalography. Cambridge, MA: Addison-Wesley; 1952
14 Sorel L, Dusaucy-Bauloye A. A propos de 21 cas d'hypsarhythmia de Gibbs; son traitement spectaculaire par l'ACTH. Acta Neurol Psychiatr Belg 1958; 58 (02) 130-141
15 Jeavons PM, Bower BD. Infantile Spasms: A Review of the Literature and a Study of 112 Cases. Clinics in Developmental Medicine 15. New Hampshire, United States: William Heinemann Medical Books;
16 Gastaut H, Roger J, Soulayrol R, Pinsard N. L'encéphalopathie myoclonique infantile avec hypsarythmie (West syndrome): compte rendu de la réunion européenne d'information électroencéphalographique. Paris: Masson; 1964
17 Fejerman N. West syndrome. In: Convulsiones en la infancia: diagnóstico y tratamiento. Buenos Aires; El Ateneo; 2a; 1986: 128-156
18 Fejerman N. Mioclonías benignas de la infancia temprana. Comunicación peliminar. Actas IV Jornadas Rioplatenses de Neurología Infantil. Neuropediatría Latinoamericana 1977. Delta, Montevideo; 131-134
19 Fejerman N. Mioclonias benignas de la infancia temprana. Rev Hosp Nino (Lima) 1977; 19: 130-135
20 Lombroso CT, Fejerman N. Benign myoclonus of early infancy. Ann Neurol 1977; 1 (02) 138-143
21 Fejerman N, Medina CS. Convulsiones en la infancia. Ergon, Buenos Aires; 1977
22 Fejerman N, Caraballo R. Appendix to “Shuddering and benign myoclonus of early infancy” (Pachatz, C., Fusco, L., Vigevano, F.). In Guerrini R, Aicardi S, Andermann F, Hallet M. (Eds) Epilepsy and movement disorders. University Press, Cambridge; 2002: 343-351
23 Caraballo RH, Capovilla G, Vigevano F, Beccaria F, Specchio N, Fejerman N. The spectrum of benign myoclonus of early infancy: clinical and neurophysiologic features in 102 patients. Epilepsia 2009; 50 (05) 1176-1183
24 Dalla Bernardina B. Benign myoclonus of early infancy or Fejerman syndrome. Epilepsia 2009; 50 (05) 1290-1292
25 Dravet C, Giraud N, Bureau M, Roger J, Gobbi G, Dalla Bernardina B. Benign myoclonus of early infancy or benign non-epileptic infantile spasms. Neuropediatrics 1986; 17 (01) 33-38
26 Ghossein J, Pohl D. Benign spasms of infancy: a mimicker of infantile epileptic disorders. Epileptic Disord 2019; 21 (06) 585-589
27 Maydell BV, Berenson F, Rothner AD, Wyllie E, Kotagal P. Benign myoclonus of early infancy: an imitator of West's syndrome. J Child Neurol 2001; 16 (02) 109-112
28 Maini I, Iodice A, Spagnoli C. et al. Expanding phenotype of PRRT2 gene mutations: a new case with epilepsy and benign myoclonus of early infancy. Eur J Paediatr Neurol 2016; 20 (03) 454-456
29 Fortini S, Valenzuela GR, Fasulo L, Caraballo R. West syndrome: a study of 26 patients receiving short-term therapy. Epilepsy Behav 2021; 114 (Pt A): 107235
30 Gobbi G, Bruno L, Pini A, Giovanardi Rossi P, Tassinari CA. Periodic spasms: an unclassified type of epileptic seizure in childhood. Dev Med Child Neurol 1987; 29 (06) 766-775