Neonatal refractory seizures;Convulsiones neonatales refractarias

Medicina

Volumn 69, Issue 1 PART 1, 2009, Pages 41-50

  Campistol, Jaume ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

Author keywords

Cofactors; Neonatal; Refractory epilepsy; Therapeutic options

Indexed keywords

ANTICONVULSIVE AGENT; BENZODIAZEPINE DERIVATIVE; VALPROIC ACID; VIGABATRIN;

ARTICLE; BRAIN DISEASE; CONVULSION; DISEASE RESISTANCE; DISEASE SEVERITY; EPILEPSY; HUMAN; INFANTILE SPASM; METABOLIC DISORDER; MORBIDITY; NEWBORN; NEWBORN MORTALITY; PROGNOSIS; SEIZURE; COMPLICATION; INBORN ERROR OF METABOLISM; SEIZURES;

ANTICONVULSANTS; EPILEPSY; HUMANS; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; SEIZURES;

EID: 62149130037     PISSN: 00257680     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (52)

1. Campistol J, De Haro P, López J. Convulsiones y epilepsias del recién nacido. En Actualización de las Epilepsias (II). Eds Herranz JL, Armijo JA. Barcelona: Ed Consulta SA. 1992.
2. Alfonso I, Papazian O, Gómez AM. Ohtahara syndrome. Int Pediatr 1989; 4: 64-7.
3. Ohtahara S. Clinico-electrical delineation of epileptic encephalopathies in childhood. Asian Med J 1978; 21: 499-509.
4. Ohtahara S, Ohtsuka Y, Yamatogui Y, Oka E. The early infantile epileptic encephalopathy with suppression-burst: developmental aspects. Brain Dev 1987; 9: 371-6.
5. Lombroso CT. Early mioclonic encephalopathy, early infantile epileptic encephalopaty, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. J Clin Neurophysiol 1990; 7: 380-408.
6. Clarke M, Gill J, Noronha M, mcKinlay I. Early infantile epileptic encephalopathy with suppresion burst: Ohtahara syndrome. Dev Med Child Neurol 1987; 29: 520-8.
7. Martínez-Bermejo A, Roche C, López Martín V, Pascual-Castroviejo I. Encefalopatía epiléptica infantil precoz. Rev Neurol (Barc) 1995; 23: 297-300.
8. Aicardi J. Neonatal myoclonic encephalopathy and early infantile epileptic encephalopathy. En Wasterlain CG, Vert P, eds. Neonatal seizures. New York: Raven Press, 1990; p 41-9.
9. López Martín V, Martínez-Bermejo A, Mulas F, Pascual-Castroviejo I. Valor pronóstico del electroencefalograma paroxístico o periódico neonatal. An Esp Pediatr 1978; 11: 273-80.
10. Rousselle C, Thevenet P, Challamel MJ et al. Encéphalopathies épileptiques précoces avec aspects EEG de "suppression-burst". Arch Pediatr 1995; 2: 901-20.
11. Aicardi J. Early myoclonic encephalopaty. En Roger, J Dravet C, Bureau M, Dreifuss FE, Wolf P, eds. Epileptic Syndromes in Infancy, Chilhood and Adolescence. London & Paris: J Libbey Eurotext, 1985; p 12-22.
12. Aicardi J, Goutières F. Encéphalopatie myoclonique néonatale. Rev EEG Neurophysiol 1978; 8: 99-101.
13. Edo MJ, Martinez MD, Rebage V, et al. Encefalopatía epiléptica infantil precoz (síndrome de Ohtahara). An Esp Pediatr 1995; 43: 135-7.
14. Voirin J, Bonté JB, Laloum D, Plessis G, Venezia R. Encéphalopathie myoclonique précoce. Essai de délimitation du syndrome en vue d'un conseil genetique. Pédiatrie 1991; 46: 323-7.
15. Donat JF. The age-dependent epileptic encephalopathies. J Child Neurol 1992; 7: 7-21.
16. Martínez A, López V, Arcas J, Pérez-Higueras A, Morales C, Pascual-Castroviejo I. Early infantile epileptic encephalopathy: a case associated with hemimegalencephaly. Brain Dev 1992; 14: 425-8.
17. Tominaga I, Kaihou M, Kimura T, et al. Encéphalopathie épiléptique infantile précoce (syndrome d'Ohtahara) avec polymicrogyrie. Rev Neurol (Paris) 1993; 149: 532-5.
18. Robain O, Dulac O. Early epileptic encephalopathy with suppresion bursts and olivary-dentate dysplasia. Neuropediatrics 1992; 23: 162-4.
19. Ohtahara S. Seizure disorders in infancy and chilhood. Brain Dev 1984; 6: 509-19.
20. Aicardi J, Ohtahara S. Épilepsies sévères du nouveau né avec tracé de burst-suppression. In: Roger J, Bureau M, Dravet C,Genton P,Tassinari C,Wolf P, editors. Les syndromes épileptiques de l'enfant et de l'adolescent. Ed Montrouge. John Libbey Eurotext 2005, p 39-50.
21. Kaminska A, Mourdie J, Barnerias C, Bahi-Buisson N, Plouin P, Huon C. Management of neonatal seizures. Arch Pediatr, 2007; 1: 1-15
22. Leonard J, Morris A. Diagnosis and early management of inborn errors of metabolism presenting around the time of birth. Acta Paediatrica, 2006; 95: 6-14.
23. Aicardi J. Epilepsy in Children. New York: Raven Press, 1994.
24. Fejerman NS. West en "Neurología Infantil". Fejerman N, Fernández-Alvarez E. Buenos Aires: Ed El Ateneo 1997.
25. Bahi-Buisson N, Mention K, Legar PL, et al. Neonatal epilepsy and inborn errors of metabolism. Arch Pediatr 2006; 13: 284-292.
26. Scriver CR, Beaudet AL, Sly L, Valle D. The metabolic basis of inherited disease. New York: Mc Graw Hill, 2001.
27. Herranz JL, de las Cuevas I. Manifestaciones epilépticas de causa metabólica. Rev Neurol 1999; 28 (supl 1): S23-8.
28. Campistol J. Síndromes epilépticos del primer año de vida y errores congénitos del metabolismo. Rev Neurol 2000; 30(supl 1) S: 60-74.
29. Koning TJ. Treatment with amino acids in serine deficiency disorders. J Inher Metab Dis, 2006, 29: 347-351
30. Campistol J. Errores congénitos del metabolismo intermediario, en la infancia. Formas de presentación y orientación diagnóstica. Canarias Pediátrica 1997, 7: 99-106.
31. Hoffman GF, Gibson KM, Trefz H. Neurological manifestations of organic acid disorders. Eur J Pediatr 1994; 153 (supp 1), S94-100.
32. Wolf B. Disorders of Biotin metabolism. En The metabolic basis of inherited disease. Scriver et al. New York: Mc Graw Hill, 1995.
33. Toribe Y. High-dose vitamin B(6) treatment in West syndrome. Brain Dev 2001; 23: 654-7.
34. Campistol J, Vilaseca MA, Cambra FJ, Lambruschini N. Diagnóstico, tratamiento y seguimiento de la hiperfenilalaninemia y fenilcetonuria en un centro referencial. Act Nutricional 1998, 24: 22-30.
35. Maury A, Payen V,Toutain A, Guiraud P, Saliba E, Labarthe F. Neonatal onset of Menkes disease: diagnosis interest of cupremia and microscopic examination of the hairs. Arch Pediatr 2007; 1216-8.
36. Guitet M, Campistol J. Enfermedad de Menkes. Respuesta al tratamiento. Rev Neurol 1999; 29: 27-30.
37. De Vivo DC, Trifiletti RR, Jacobson RI, et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglychorrachia, seizures and developmental delay. N Engl J Med 1991; 325: 703-9.
38. Pascual JM, Lecumberri B, Wang D, Yang R, Engelstad K, De Vivo DC. Deficiencia del transportador de glucosa tipo 1(Glut 1): manifestaciones de un sindrome hereditario. Rev Neurol 2004; 38: 860-4.
39. Friedman JR, Thiele EA, Wang D, De Vivo DC, Penny P, Heidi P. Early onset dystonia-choreoathetosis-ataxia secondary to GLUT1 deficiency, responsible to ketogenic diet. Epilepsia 2003; 44: 701-7.
40. Ho YY, Yang H, Klepper J, Fischbarg J, Wang D, De Vivo DC. Glucose transporter type I deficiency (Glut 1DS): methylxantines potentiate GLUT1 haploinsufficiency in vitro. Pediatr Res 2001; 50: 254-60.
41. Stöckler S, Holzbach U, Hanefeld F, et al. Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 1994; 36: 409-13.
42. Stöckler S, Hanefeld F, Frahm J. Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 1996; 348: 789-90.
43. Salomons GJ, van Dooren SJM, Verhoeven N, et al. X-linked creatine transporter (SLC6A8 gene) defect: a new creatine deficiency syndrome. Am J Hum Genet 2001; 68: 1497-1500.
44. Item CB, Stöckler-Ipsiroglu S, Stromberger C, et al Arginine-glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet 2001; 69: 1127-33.
45. Leuzzi V. Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment. J Child Neurol 2002; 17 Suppl 3: 3S89-97.
46. Schulze A, Bachert P, Schlemmer H, et al. Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol 2003a; 53: 248-51.
47. Campistol J, Arias A, Póo P, et al. Deficiencia del transportador de creatina cerebral: una enfermedad neurome-tabólica infradiagnosticada. Rev Neurol 2007;44 (Supl 6): 343-7.
48. Ensenauer R, Thiel T, Schwab KO, et al. Guanidinoacetate me- thyltransferase deficiency: differences of creatine uptake in human brain and muscle. Mol Genet Metab 2004; 82: 208-13.
49. Torres A, Miller VS, Buist N, Hyland K. Folinic acid-responsive neonatal seizures. J Child Neurol 1999; 14: 529-32.
50. Meng-Fai Kuo, Huei-Shyong Wang. Pyridoxal Phosphate: responsive epilepsy with resistance to pyridoxine. Pediatr Neurol 2002; 26: 146-7.
51. Mills PB, Beesley CE, Surtees R, et al. The molecular genetics of pyridoxine resistant pyridoxal phosphate sensitive seizures. Poster in SSIEM, Amsterdam Sep 04.
52. Clayton PT, Surtees RA, DeVile C, Hyland K, Heales SJ. Neonatal epileptic encephalopathy. Lancet 2003; 361: 1614.