Notas clínicas
Espasmos infantiles como primera manifestación de la acidemia propiónica
Infantile spasms as the first manifestation of propionic acidemia
L. Aldamiz-Echevarría Azuara,
, J.M. Prats Viñasb, P. Sanjurjo Crespoa, J.A. Prieto Pereraa, M.ªT. Labayru Echeverríac
Corresponding author
kaldamiz@hcru.osakidetza.net
Correspondencia: Dr. L. Aldámiz-Echevarría Azuara. Unidad de Metabolismo. Departamento de Pediatría. Hospital de Cruces. Pl. de Cruces, s/n. 48903 Barakaldo. Bilbao. España.
Correspondencia: Dr. L. Aldámiz-Echevarría Azuara. Unidad de Metabolismo. Departamento de Pediatría. Hospital de Cruces. Pl. de Cruces, s/n. 48903 Barakaldo. Bilbao. España.
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"apellidos" => "Aldamiz-Echevarría Azuar" "email" => array:1 [ 0 => "kaldamiz@hcru.osakidetza.net" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff1" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">¿</span>" "identificador" => "cor1" ] ] ] 1 => array:3 [ "nombre" => "J.M." "apellidos" => "Prats Viñas" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff2" ] ] ] 2 => array:3 [ "nombre" => "P." "apellidos" => "Sanjurjo Crespo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff1" ] ] ] 3 => array:3 [ "nombre" => "J.A." "apellidos" => "Prieto Perera" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff1" ] ] ] 4 => array:3 [ "nombre" => "M.ªT." 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Hospital de Cruces. Pl. de Cruces, s/n. 48903 Barakaldo. Bilbao. España." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Infantile spasms as the first manifestation of propionic acidemia" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2005-06-30" "fechaAceptado" => "2005-06-30" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec186295" "palabras" => array:2 [ 0 => "Acidemia propiónica" 1 => "Espasmos" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec186296" "palabras" => array:2 [ 0 => "Propionic acidemia" 1 => "Spasms" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<p class="elsevierStyleSimplePara elsevierViewall">La acidemia propiónica es una alteración del metabolismo de los aminoácidos de cadena ramificada, la cadena lateral del colesterol y los ácidos grasos de cadena impar que conduce a la acumulación de metabolitos ácidos tóxicos. Las manifestaciones clínicas suelen comenzar poco después del nacimiento, aunque también en etapas más tardías. Nuestro caso se trata de un niño de 3 años con un inicio anormal, que a los 6 meses presentaba episodios de espasmos infantiles y un electroencefalograma hipsarrítmico. Se le trató con vigabatrina. A los 8 meses, la imagen de resonancia magnética mostraba un espacio subaracnoideo ensanchado, tálamos, globos pálidos y núcleo subtalámico con señal hiperintensa. Los análisis bioquímico y genético confirmaron acidemia propiónica. Se instauró tratamiento específico, en la actualidad no recibe tratamiento antiepiléptico y su electroencefalograma es normal. Este inicio de la acidemia propiónica es poco habitual y creemos que el tratamiento con vigabatrina protegió los ganglios basales de un daño excitotóxico irreversible.</p>" ] "en" => array:1 [ "resumen" => "<p class="elsevierStyleSimplePara elsevierViewall">Propionic acidemia is a disorder of branch-chain amino acids, the side chain of cholesterol and odd-chain fatty acid metabolism that leads to the accumulation of toxic acid metabolites. The clinical features typically begin shortly after birth, although they can also appear in young adulthood. We report the case of a 3-year-old boy with atypical onset, who at 6 months presented bursts of infantile spasms and a hypsarrhythmic electroencephalogram. He was treated with vigabatrin. At 8 months magnetic resonance imaging showed a wider than normal subarachnoidal space, and hyperintense thalamus, globus pallidus and subthalamic nucleus. Biochemical and genetic analysis confirmed propionic acidemia. Specific therapy was started and the patient is not currently under antiepileptic treatment and his electroencephalogram is normal. This onset of propionic acidemia is unusual, and we believe that treatment with vigabatrin protected the basal ganglia from irreversible excitotoxic damage.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografía" "seccion" => array:1 [ 0 => array:1 [ "bibliografiaReferencia" => array:12 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Disorders of propionate and methylmalonate metabolism" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "W.A. Fenton" 1 => "L.E. 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| 2021 December | 42 | 51 | 93 |
| 2021 November | 49 | 61 | 110 |
| 2021 October | 33 | 76 | 109 |
| 2021 September | 20 | 58 | 78 |
| 2021 August | 22 | 35 | 57 |
| 2021 July | 36 | 32 | 68 |
| 2021 June | 26 | 53 | 79 |
| 2021 May | 27 | 33 | 60 |
| 2021 April | 42 | 76 | 118 |
| 2021 March | 56 | 24 | 80 |
| 2021 February | 66 | 19 | 85 |
| 2021 January | 37 | 17 | 54 |
| 2020 December | 32 | 20 | 52 |
| 2020 November | 18 | 6 | 24 |
| 2020 October | 14 | 13 | 27 |
| 2020 September | 23 | 9 | 32 |
| 2020 August | 14 | 14 | 28 |
| 2020 July | 9 | 14 | 23 |
| 2020 June | 19 | 11 | 30 |
| 2020 May | 28 | 12 | 40 |
| 2020 April | 20 | 12 | 32 |
| 2020 March | 25 | 20 | 45 |
| 2020 February | 22 | 13 | 35 |
| 2020 January | 20 | 27 | 47 |
| 2019 December | 36 | 26 | 62 |
| 2019 November | 27 | 15 | 42 |
| 2019 October | 4 | 10 | 14 |
| 2019 September | 17 | 22 | 39 |
| 2019 August | 18 | 15 | 33 |
| 2019 July | 28 | 12 | 40 |
| 2019 June | 22 | 24 | 46 |
| 2019 May | 43 | 31 | 74 |
| 2019 April | 102 | 39 | 141 |
| 2019 March | 27 | 9 | 36 |
| 2019 February | 31 | 13 | 44 |
| 2019 January | 15 | 14 | 29 |
| 2018 December | 30 | 15 | 45 |
| 2018 November | 36 | 19 | 55 |
| 2018 October | 57 | 22 | 79 |
| 2018 September | 27 | 9 | 36 |
| 2018 July | 2 | 0 | 2 |
| 2018 June | 2 | 0 | 2 |
| 2018 May | 1 | 0 | 1 |
| 2018 April | 13 | 0 | 13 |
| 2018 March | 5 | 0 | 5 |
| 2018 February | 5 | 0 | 5 |
| 2018 January | 7 | 0 | 7 |
| 2017 December | 4 | 0 | 4 |
| 2017 November | 11 | 0 | 11 |
| 2017 October | 8 | 0 | 8 |
| 2017 September | 14 | 0 | 14 |
| 2017 August | 4 | 0 | 4 |
| 2017 July | 9 | 2 | 11 |
| 2017 June | 15 | 8 | 23 |
| 2017 May | 16 | 11 | 27 |
| 2017 April | 9 | 4 | 13 |
| 2017 March | 8 | 27 | 35 |
| 2017 February | 7 | 7 | 14 |
| 2017 January | 10 | 2 | 12 |
| 2016 December | 21 | 5 | 26 |
| 2016 November | 24 | 6 | 30 |
| 2016 October | 23 | 6 | 29 |
| 2016 September | 31 | 7 | 38 |
| 2016 August | 19 | 6 | 25 |
| 2016 July | 19 | 17 | 36 |
| 2016 February | 0 | 10 | 10 |
| 2015 December | 2 | 0 | 2 |
| 2015 November | 0 | 9 | 9 |
| 2015 October | 0 | 3 | 3 |
| 2015 September | 2 | 0 | 2 |
| 2015 August | 1 | 0 | 1 |
| 2015 July | 10 | 6 | 16 |
| 2015 June | 7 | 0 | 7 |
| 2015 May | 12 | 9 | 21 |
| 2015 April | 10 | 5 | 15 |
| 2015 March | 14 | 4 | 18 |
| 2015 February | 13 | 5 | 18 |
| 2015 January | 10 | 1 | 11 |
| 2014 December | 27 | 3 | 30 |
| 2014 November | 18 | 4 | 22 |
| 2014 October | 17 | 5 | 22 |
| 2014 September | 31 | 3 | 34 |
| 2014 August | 30 | 2 | 32 |
| 2014 July | 36 | 3 | 39 |
| 2014 June | 44 | 4 | 48 |
| 2014 May | 55 | 4 | 59 |
| 2014 April | 54 | 7 | 61 |
| 2014 March | 54 | 10 | 64 |
| 2014 February | 48 | 10 | 58 |
| 2014 January | 50 | 5 | 55 |
| 2013 December | 49 | 9 | 58 |
| 2013 November | 54 | 7 | 61 |
| 2013 October | 45 | 6 | 51 |
| 2013 September | 30 | 9 | 39 |
| 2013 August | 30 | 12 | 42 |
| 2013 July | 32 | 9 | 41 |
| 2013 June | 4 | 6 | 10 |
| 2013 May | 2 | 2 | 4 |
| 2013 April | 7 | 2 | 9 |
| 2013 March | 4 | 0 | 4 |
| 2013 February | 17 | 1 | 18 |
| 2013 January | 4 | 1 | 5 |
| 2012 December | 3 | 0 | 3 |
| 2012 November | 4 | 1 | 5 |
| 2012 October | 1 | 0 | 1 |
| 2012 September | 2 | 1 | 3 |
| 2005 December | 3179 | 0 | 3179 |
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