{"id":8895,"date":"2026-10-27T17:39:06","date_gmt":"2026-10-27T17:39:06","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=8895"},"modified":"2026-10-27T23:26:36","modified_gmt":"2026-10-27T23:26:36","slug":"angelman","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/zh\/angelman\/","title":{"rendered":"Angelman y Angelman-like"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">1. Criterios diagn\u00f3sticos: el consenso de 1995 actualizado en 2005<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Se aplica a los cuatro mecanismos conocidos (deleci\u00f3n 15q11.2-q13, disom\u00eda uniparental paterna, defecto de <em>imprinting<\/em>, mutaci\u00f3n de <em>UBE3A<\/em>) y se organiza en tres tablas.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Tabla I \u2014 Historia del desarrollo y laboratorio<\/strong> (criterios de inclusi\u00f3n; las desviaciones no deben excluir el diagn\u00f3stico): embarazo y parto normales, per\u00edmetro cef\u00e1lico normal, sin malformaciones mayores (puede haber dificultades de alimentaci\u00f3n en el neonato); retraso evidente a los 6\u201312 meses, a veces con hipoton\u00eda troncular y sonrisa aumentada; progresi\u00f3n lenta <strong>sin p\u00e9rdida de habilidades<\/strong>; metabolismo, hematolog\u00eda y bioqu\u00edmica normales; neuroimagen estructuralmente normal (se admite atrofia cortical leve o dismielinizaci\u00f3n).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Tabla II \u2014 Cl\u00ednica<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>A. Constantes (100 %)<\/strong>: retraso funcionalmente grave; trastorno del movimiento y el equilibrio (ataxia, temblor; puede ser leve: marcha lanzada, torpeza, movimientos bruscos); \u00abunicidad conductual\u00bb \u2014 risa y sonrisa frecuentes, apariencia feliz, personalidad excitable, aleteo de manos, hiperactividad motora; lenguaje con ninguna o m\u00ednimas palabras, con comprensi\u00f3n y comunicaci\u00f3n no verbal superiores al expresivo.<\/li>\n\n\n\n<li><strong>B. Frecuentes (m\u00e1s del 80 %)<\/strong>: microcefalia (\u2264 \u22122 DE) hacia los 2 a\u00f1os, m\u00e1s marcada en deleciones; crisis de inicio habitualmente antes de los 3 a\u00f1os, que persisten en la edad adulta aunque su gravedad disminuya; EEG anormal caracter\u00edstico, que puede preceder a la cl\u00ednica y no correlacionarse con las crisis.<\/li>\n\n\n\n<li><strong>C. Asociadas (20\u201380 %)<\/strong>: occipucio plano y surco occipital, lengua protruyente, succi\u00f3n y degluci\u00f3n an\u00f3malas, prognatismo, boca ancha con dientes separados, sialorrea, boca-taci\u00f3n, estrabismo, reflejos osteotendinosos exaltados en miembros inferiores, brazos flexionados y elevados al caminar, marcha de base amplia con pies pronados o valgos, hipersensibilidad al calor, ciclo sue\u00f1o-vigilia alterado con menor necesidad de sue\u00f1o, conductas alimentarias an\u00f3malas, obesidad en el adulto, escoliosis, estre\u00f1imiento, fascinaci\u00f3n por el agua y por objetos que crujen, e hipopigmentaci\u00f3n (solo en deleciones).<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Tabla III \u2014 Pruebas gen\u00e9ticas<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Metilaci\u00f3n del ex\u00f3n 1\/promotor de <em>SNURF-SNRPN<\/em>: detecta deleci\u00f3n, disom\u00eda uniparental y defecto de <em>imprinting<\/em> (con posibilidad de mosaicismo). Es la prueba de primera l\u00ednea.<\/li>\n\n\n\n<li>FISH de la regi\u00f3n de solapamiento, con sonda pericentrom\u00e9rica para translocaciones sutiles; el array-CGH detecta la deleci\u00f3n pero debe confirmarse y permite distinguir clase I y clase II.<\/li>\n\n\n\n<li>Polimorfismos en 15q11.2-q13 para disom\u00eda uniparental paterna.<\/li>\n\n\n\n<li>Deleci\u00f3n del centro de <em>imprinting<\/em> (PCR cuantitativa, FISH a copia \u00fanica).<\/li>\n\n\n\n<li>Variante pat\u00f3gena en <em>UBE3A<\/em>, incluyendo el estudio de dosis g\u00e9nica.<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Regla de aplicaci\u00f3n<\/strong>: quien cumpla la Tabla I y todos los grupos A y B debe estudiarse. Una prueba positiva confirma; una negativa no excluye, porque en el 10\u201315 % de los pacientes con cl\u00ednica caracter\u00edstica los estudios de cromosoma 15 son normales. Y una precauci\u00f3n esencial: una deleci\u00f3n detectada por FISH es compatible con AS <strong>o con Prader-Willi<\/strong>; nunca debe cerrarse el diagn\u00f3stico sin metilaci\u00f3n.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">3. S\u00edndromes Angelman-like<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">3.1 Microdeleciones y microduplicaciones<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Tan et al. (2014) rotulan por mecanismo solo tres entidades y pasan el resto a \u00abgenes\u00bb, de modo que la categor\u00eda cromos\u00f3mica queda diluida: una regresi\u00f3n respecto a 2001, pese a que el trabajo se presenta como actualizaci\u00f3n de aquella revisi\u00f3n. Tabla reconstruida:<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>Regi\u00f3n (gen)<\/th><th>Entidad<\/th><th>Rasgos compartidos<\/th><th>Distintivos<\/th><\/tr><\/thead><tbody><tr><td>22q13.3 (<em>SHANK3<\/em>)<\/td><td>Phelan-McDermid<\/td><td>hipoton\u00eda, boca-taci\u00f3n, hiperactividad, ausencia de lenguaje, cuerpo calloso fino<\/td><td>crecimiento normal o r\u00e1pido, orejas y manos grandes, u\u00f1as displ\u00e1sicas, evita el contacto ocular, p\u00e9rdida del lenguaje tras los 3\u20134 a\u00f1os, fosa posterior an\u00f3mala<\/td><\/tr><tr><td>2q23.1 (<em>MBD5<\/em>)<\/td><td>Haploinsuficiencia de <em>MBD5<\/em><\/td><td>crisis, estre\u00f1imiento, atenci\u00f3n corta, microcefalia<\/td><td>estereotipias repetitivas, anomal\u00edas esquel\u00e9ticas de manos y pies, nariz corta con puente hundido, EEG inespec\u00edfico<\/td><\/tr><tr><td>17q21.31 (<em>KANSL1<\/em>)<\/td><td>Koolen-de Vries<\/td><td>hipoton\u00eda, crisis, dificultades de alimentaci\u00f3n, car\u00e1cter feliz, hipersociabilidad<\/td><td>discapacidad leve-moderada, macrocefalia relativa, frente alta y ancha, laxitud, criptorquidia, nevos m\u00faltiples e hiperpigmentaci\u00f3n en el adulto<\/td><\/tr><tr><td>9q34.3 (<em>EHMT1<\/em>)<\/td><td>Kleefstra<\/td><td>hipoton\u00eda, alteraciones del sue\u00f1o, retrusi\u00f3n mediofacial, prognatismo<\/td><td>sinofris, obesidad infantil, cardiopat\u00eda conotruncal o septal, anomal\u00edas renales y genitales, apat\u00eda o catatonia, regresi\u00f3n, sin patr\u00f3n EEG consistente<\/td><\/tr><tr><td>5q14.3q15 (<em>MEF2C<\/em>, \u00b1 <em>RASA1<\/em>)<\/td><td>MEF2C<\/td><td>hipoton\u00eda, crisis, marcha de base amplia, ausencia de lenguaje<\/td><td>bruxismo, estereotipias de aplauso o lavado, mal contacto ocular, espasmos con hipsarritmia; con <em>RASA1<\/em>, malformaci\u00f3n capilar-arteriovenosa<\/td><\/tr><tr><td>Xq28 dup (<em>MECP2<\/em>)<\/td><td>Duplicaci\u00f3n de <em>MECP2<\/em> (varones)<\/td><td>hipoton\u00eda, crisis, marcha at\u00e1xica, estereotipias<\/td><td>regresi\u00f3n, infecciones respiratorias recurrentes, corea, espasticidad progresiva<\/td><\/tr><tr><td>dup 15q11-q13<\/td><td>Dup15q<\/td><td>puede presentar rasgos de AS, sobre todo si hay rasgos autistas<\/td><td>espectro autista, mayor nivel funcional, algo de lenguaje expresivo; es el producto rec\u00edproco de la deleci\u00f3n; ausente en Tan et al. (2014)<\/td><\/tr><tr><td>del 15q11-q13 paterna<\/td><td>Prader-Willi<\/td><td>hipoton\u00eda, problemas de alimentaci\u00f3n, crisis<\/td><td>obesidad e hiperfagia; la FISH no distingue AS de Prader-Willi, por lo que se requiere metilaci\u00f3n<\/td><\/tr><tr><td>4p15.2\u201316.1 y 4q12-q13.1<\/td><td>Deleciones 4p y 4q<\/td><td>risa excesiva, sialorrea, marcha inestable, habla m\u00ednima, a veces hipopigmentaci\u00f3n<\/td><td>piebaldismo con del 4q12 (<em>KIT<\/em>), talla baja, anomal\u00edas menores; ausentes en Tan et al. (2014)<\/td><\/tr><tr><td>17q23.2<\/td><td>Deleci\u00f3n intersticial<\/td><td>risa excesiva, aleteo de manos, ausencias, EEG anormal<\/td><td>vocabulario de unas 35 palabras, pulgares proximales; ausente en Tan et al. (2014) y distinta de 17q21.31<\/td><\/tr><\/tbody><\/table><figcaption class=\"wp-element-caption\">Figura 1. Esquema comparativo de s\u00edndromes Angelman-like seg\u00fan mecanismo gen\u00e9tico, destacando trastornos del remodelado de la cromatina (como MECP2, ZEB2, EHMT1, MBD5, KANSL1, FOXG1, ATRX) frente a sinaptopat\u00edas (como SHANK3), con UBE3A como nexo funcional com\u00fan.<\/figcaption><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\">3.2 Trastornos de gen \u00fanico<\/h3>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>Gen<\/th><th>S\u00edndrome<\/th><th>Distintivos frente a AS<\/th><\/tr><\/thead><tbody><tr><td><em>TCF4<\/em><\/td><td>Pitt-Hopkins<\/td><td>hiperventilaci\u00f3n y apnea epis\u00f3dicas, estre\u00f1imiento grave precoz, almohadillas digitales persistentes, miop\u00eda magna, autoagresi\u00f3n, orejas an\u00f3malas<\/td><\/tr><tr><td><em>SLC9A6<\/em><\/td><td>Christianson (ligado al X)<\/td><td>par\u00e1lisis de la mirada horizontal o vertical, regresi\u00f3n, atrofia progresiva del vermis inferior, pico glutamato-glutamina en espectroscopia<\/td><\/tr><tr><td><em>ZEB2<\/em><\/td><td>Mowat-Wilson<\/td><td>cardiopat\u00eda, hipospadias, anomal\u00edas renales, cejas en llamarada, l\u00f3bulos con depresi\u00f3n central, bruxismo, sin fascinaci\u00f3n por el agua<\/td><\/tr><tr><td><em>HERC2<\/em><\/td><td>HERC2 (recesivo)<\/td><td>discapacidad leve-moderada, muy afectuosos pero sin risa f\u00e1cil, crisis raras<\/td><\/tr><tr><td><em>ADSL<\/em><\/td><td>D\u00e9ficit de adenilosuccinasa<\/td><td>mal contacto ocular, atrofia cerebral y cerebelosa, EEG con brote-supresi\u00f3n, succinilpurinas en LCR y orina<\/td><\/tr><tr><td><em>MECP2<\/em><\/td><td>Rett<\/td><td>la regresi\u00f3n distingue el Rett t\u00edpico del AS; estereotipias de lavado, respiraci\u00f3n an\u00f3mala<\/td><\/tr><tr><td><em>CDKL5<\/em><\/td><td>CDKL5<\/td><td>crisis antes de los 5 meses, espasmos infantiles, encefalopat\u00eda refractaria, EEG neonatal con electrodecremento<\/td><\/tr><tr><td><em>FOXG1<\/em><\/td><td>FOXG1<\/td><td>disquinesia manual, bruxismo, mal contacto ocular, giros simplificados y menor sustancia blanca frontal<\/td><\/tr><tr><td><em>ATRX<\/em><\/td><td>ATR-X (ligado al X)<\/td><td>ambig\u00fcedad genital, anomal\u00edas esquel\u00e9ticas hasta en el 90 %, labilidad emocional, inclusiones de hemoglobina H<\/td><\/tr><tr><td><em>STXBP1<\/em><\/td><td>Ohtahara<\/td><td>brote-supresi\u00f3n, hipsarritmia<\/td><\/tr><\/tbody><\/table><figcaption class=\"wp-element-caption\">Figura 2. Gr\u00e1fico de correlaci\u00f3n fenot\u00edpica en trastornos del cromosoma 4, mostrando rasgos comunes como risa excesiva, sialorrea, marcha inestable y habla m\u00ednima, junto con hallazgos espec\u00edficos como piebaldismo con deleci\u00f3n 4q12 (KIT) y talla baja, diferenciando estos fenotipos de otros s\u00edndromes similares.<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Marco propuesto por Tan et al. (2014): <strong>trastornos del remodelado de la cromatina<\/strong> (<em>MECP2<\/em>, <em>ZEB2<\/em>, <em>EHMT1<\/em>, <em>MBD5<\/em>, <em>KANSL1<\/em>, <em>FOXG1<\/em>, <em>ATRX<\/em>) frente a <strong>sinaptopat\u00edas<\/strong> (<em>SHANK3<\/em>), con E6AP\/<em>UBE3A<\/em> como nexo.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">4. Trampas y reglas pr\u00e1cticas<\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Metilaci\u00f3n primero.<\/strong> La FISH sola no distingue AS de Prader-Willi; el array-CGH aislado deja escapar disom\u00eda uniparental, defectos de <em>imprinting<\/em> y variantes de <em>UBE3A<\/em>. El array est\u00e1 indicado en todo fenotipo Angelman-like con estudio gen\u00e9tico de AS no concluyente.<\/li>\n\n\n\n<li><strong>Trampa 22q11.2.<\/strong> La deleci\u00f3n 22q13.3 se descubre a menudo por azar cuando se pide una FISH de microdeleci\u00f3n 22q11.2 (DiGeorge), porque la sonda telom\u00e9rica de control est\u00e1 ausente en esos casos: un estudio \u00abnegativo\u00bb para 22q11.2 no descarta Phelan-McDermid.<\/li>\n\n\n\n<li><strong>Lo que discrimina de verdad<\/strong> son las malformaciones cong\u00e9nitas y la regresi\u00f3n del desarrollo; las crisis, la ausencia de lenguaje, la apariencia feliz y la microcefalia son inespec\u00edficas.<\/li>\n\n\n\n<li><strong>Pistas que reorientan<\/strong>: regresi\u00f3n (Rett, Christianson, duplicaci\u00f3n de <em>MECP2<\/em>, Kleefstra), malformaciones (Mowat-Wilson, Kleefstra), par\u00e1lisis de la mirada (Christianson), respiraci\u00f3n an\u00f3mala (Rett, Pitt-Hopkins), almohadillas digitales (Pitt-Hopkins, 22q13.3, Mowat-Wilson), bruxismo (Rett, FOXG1, MEF2C, Mowat-Wilson), falta de sociabilidad y de fascinaci\u00f3n por el agua (22q13.3, Mowat-Wilson).<\/li>\n\n\n\n<li><strong>Nunca dejar \u00abAS test-negativo\u00bb como diagn\u00f3stico final<\/strong>: si el cuadro es convincente, mantener el diagn\u00f3stico cl\u00ednico y seguir buscando, pero con un plan (array, panel, exoma), no con una etiqueta sindr\u00f3mica.<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">5. Mensajes<\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Los criterios de 2006 siguen siendo v\u00e1lidos como criterios cl\u00ednicos, no como cribado molecular: describen un fenotipo, no un gen.<\/li>\n\n\n\n<li>La lista de imitadores mezcla niveles; conviene separar entidades etiol\u00f3gicas de categor\u00edas de exclusi\u00f3n (par\u00e1lisis cerebral, Lennox-Gastaut, encefalopat\u00eda est\u00e1tica, autismo), explicitando que estas \u00faltimas fallan en ambos sentidos.<\/li>\n\n\n\n<li>La categor\u00eda microdeleci\u00f3n y microduplicaci\u00f3n merece tabla propia: los s\u00edndromes de 22q13.3, 2q23.1, 17q21.31, 9q34.3, 5q14.3, Xq28, dup 15q11-q13, del 15q11-q13 paterna, 4p\/4q y 17q23.2 se diagnostican con array, y ese es el primer paso tras una AS negativa.<\/li>\n\n\n\n<li>Ante un cuadro Angelman-like, la pregunta \u00fatil no es \u00ab\u00bfse parece al AS?\u00bb sino \u00ab\u00bfhay malformaci\u00f3n cong\u00e9nita, regresi\u00f3n o un rasgo discordante (mirada, 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Angelman syndrome 2005: Updated consensus for diagnostic criteria. American Journal of Medical Genetics Part A [Internet]. 2006 [cited 2026 Oct 27];140A(5):413\u20138. Available from: <a class='zp-ItemURL' href='https:\/\/onlinelibrary.wiley.com\/doi\/abs\/10.1002\/ajmg.a.31074'>https:\/\/onlinelibrary.wiley.com\/doi\/abs\/10.1002\/ajmg.a.31074<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\t\t\t\t<div id=\"zp-ID-8895-19955111-FB2TX94T\" data-zp-author-date='Tan-et-al.-2014' data-zp-date-author='2014-Tan-et-al.' data-zp-date='2014' data-zp-year='2014' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Tan WH, Bird LM, Thibert RL, Williams CA. If not Angelman, what is it? a review of Angelman-like syndromes. American Journal of Medical Genetics Part A [Internet]. 2014 [cited 2015 May 29];164(4):975\u201392. 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id=\"zp-ID-8895-19955111-FB2TX94T\" data-zp-author-date='Tan-et-al.-2014' data-zp-date-author='2014-Tan-et-al.' data-zp-date='2014' data-zp-year='2014' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Tan WH, Bird LM, Thibert RL, Williams CA. If not Angelman, what is it? a review of Angelman-like syndromes. American Journal of Medical Genetics Part A [Internet]. 2014 [cited 2015 May 29];164(4):975\u201392. Available from: <a class='zp-ItemURL' href='http:\/\/doi.wiley.com\/10.1002\/ajmg.a.36416'>http:\/\/doi.wiley.com\/10.1002\/ajmg.a.36416<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n","protected":false},"excerpt":{"rendered":"<p>1. Criterios diagn\u00f3sticos: el consenso de 1995 actualizado en 2005 Se aplica a los cuatro mecanismos conocidos (deleci\u00f3n 15q11.2-q13, disom\u00eda uniparental paterna, defecto de imprinting, mutaci\u00f3n de UBE3A) y se organiza en tres tablas. Tabla I \u2014 Historia del desarrollo y laboratorio (criterios de inclusi\u00f3n; las desviaciones no deben excluir el diagn\u00f3stico): embarazo y parto &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/zh\/angelman\/\" class=\"more-link\">\u7ee7\u7eed\u9605\u8bfb<span class=\"screen-reader-text\"> \u00abAngelman y Angelman-like\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-8895","post","type-post","status-publish","format-standard","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/posts\/8895","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/comments?post=8895"}],"version-history":[{"count":4,"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/posts\/8895\/revisions"}],"predecessor-version":[{"id":8916,"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/posts\/8895\/revisions\/8916"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/media?parent=8895"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/categories?post=8895"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/tags?post=8895"}],"curies":[{"name":"\u53ef\u6e7f\u6027\u7c89\u5242","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}