Methylmalonic aciduria associated with myoclonic convulsions, psychomotor retardation and hypsarrhythmia;Aciduria metilmalónica asociada a convulsiones mioclónicas, retraso psicomotor e hipsarritmia

Revista de Neurologia

Volumn 36, Issue 8, 2003, Pages 735-737

  Guevara Campos, J ^a,c   Gonzalez de Guevara L ^b   Medina Atopo, M ^a  

^a UNIVERSIDAD DE ORIENTE   (Venezuela)

^b Ctro Clin Cient Esperanza Paraco   (Venezuela)

^c NONE   (Venezuela)

Author keywords

Aciduria; Convulsions; Hypsarrhythmia; Myoclonias; Psychomotor retardation; Syndrome

Indexed keywords

CARNITINE; CYANOCOBALAMIN; GADOLINIUM; GLUTARIC ACID; ISOVALERIC ACID;

ARTICLE; BRAIN ATROPHY; CASE REPORT; CHILD; CLINICAL FEATURE; COMA; CONVULSION; DISEASE ASSOCIATION; FEMALE; GAS CHROMATOGRAPHY; HUMAN; HYPSARRHYTHMIA; LACTIC ACIDEMIA; MALE; MASS SPECTROMETRY; METHYLMALONIC ACIDURIA; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PROPIONIC ACIDEMIA; PROTEIN RESTRICTION; PSYCHOMOTOR DISORDER; STUPOR;

EID: 0037949156     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.3608.2002487     Document Type: Article

References (25)

1. Melengello J. Pediatría. 5 ed. Buenos Aires: Panamericana; 1999.
2. Campistol J. Errores congénitos del metabolismo intermediario con repercusión neurológica. Aminoacidopatías. Acidurias Orgánicas. In Aparicio JM, Artigas J, Campistol J, Campos J, Casas C, Castro-Gago M, et al, eds. Neurología pediátrica. Barcelona: Ergón; 2000. p. 95-113.
3. Volpe J. Neurology of the newborn. 4 ed. Philadelphia: WB Saunders; 2000.
4. Menkes J. Child Neurology. 2 ed. Philadelphia: Lea & Febiger; 1980.
5. Swaiman KF, Neurología pediátrica. 2 ed. St. Louis: Mosby/Doyma; 1996.
6. Muller R, Puig M, Ugarte M, Garcia M, Wallis V, Merzon R, et al. Síndrome del olor a pies sudados: acidemia isovalérica. Arch Venez Puer Ped 1988; 51: 146-55.
7. 12. Arch Venez Puer Ped 1982; 45: 130-7.
8. 12 deficiency. Value of etiological diagnosis. Arch Fr Pediatr 1993; 50: 749-54.
9. 12-independent methylmalonic aciduria. Mater Med Pol 1991; 23: 219-22.
10. Topcu M, Saatci I, Haliloglu G, Kesimer M, Coskun T. D-Gliceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour. Neuropediatrics 2002; 33: 47-50.
11. Herranz JL. Epilepsias en el recién nacido, lactante y preescolar. In Aparicio JM, Artigas J, Campistol J, Campos J, Casas C, Castro-Gago M, et al, eds. Neurología pediátrica. Barcelona: Ergón; 2000. p. 227-37.
12. Haines ST, Casto DT. Treatment of infantile spasms. Ann Pharmacother 1994; 28: 779-91.
13. Dreiffus F. Infantile spasms. In Dreiffus F, ed. Pediatric epileptology, London: John Wright; 1983. p. 97-106.
14. Alcardi J, Chevrie J. Les spasmes ifantiles. Arch Franc Pediat 1978; 35: 1015-23.
15. Vigevano F, Fuslo L, Pachatz C. Neurophysiology of spasms. Brain Dev 2001; 23: 467-72.
16. Dulac O. What is West syndrome? Brain Dev 2001; 23: 447-52.
17. Wong M, Trevathan E. Infantile spasm. Pediatr Neurol 2001; 24: 89-98.
18. Sell-Salazar F. Síndrome de West. Rev Neurol 1999; 29; 342-5.
19. Jeavons P. Le syndrome de West; spasmes infantiles. In Roger J, Dravet C, Bureau M, Dreifuss F, Wolf P, eds. Les syndromes épileptiques de adolescent. London: John Libbey Eurotext; 1984. p. 42-50.
20. Jeavons P, Bower B. Infantile spams. In Magnus O, de Haas L. Handbook of clinical neurology. Amsterdam: North Holland; 1974. p. 219-34.
21. Friedman E, Pampiglione G. Prognostic implications of electroencephalographic findings of hypsarritmia in first year of life. Br Med J 1971; 4: 323-5.
22. Campistol J. Epileptic syndromes in the first year of life and congenital errors of metabolism. Rev Neurol 2000; 30: S60-74.
23. Rousson R, Guibaud P. Long term outcome of organic acidurias: survey of 105 french cases (1967-1983). J Inherit Metab Dis 1984; 1: 10-2.
24. Brismar J, Ozand P. CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients. Brain Dev 1999; Suppl 16: 104-24.
25. Okun JG, Horster F, Farkas LM, Feyh P, Hinz A, Sauer S, et al. Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cicle,and synergistically acting excitotoxicity. J Biol Chem 2002; 277: 14674-80.