{"id":28,"date":"2018-11-19T22:41:02","date_gmt":"2018-11-19T22:41:02","guid":{"rendered":"http:\/\/www.prader-willi.ro\/?page_id=28"},"modified":"2019-01-30T22:03:03","modified_gmt":"2019-01-30T22:03:03","slug":"despre-noi","status":"publish","type":"page","link":"https:\/\/www.prader-willi.ro\/index.php\/despre-noi\/","title":{"rendered":"Despre noi"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">Ce putem spune despre noi mai simplu de at\u00e2t?<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Suntem p\u0103rin\u021bii lui \u0218tefan, iar el are sindromul Prader-Willi.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Despre el este articolul urm\u0103tor, pe care \u00eel cit\u0103m \u00een \u00eentregime.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Rezumat<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"> Sindromul Prader-Willi este consecin\u0163a mai multor defecte genetice \u00een regiunea 15q11-q13, \u00eentre care \u015fi modific\u0103rile de metilare, \u015fi este asociat la nou-n\u0103scu\u0163i cu hipotonie, dificult\u0103\u0163i de hr\u0103nire, cre\u015ftere redus\u0103 \u015fi retard de dezvoltare. Prezent\u0103m cazul unui nou-n\u0103scut la termen (38 de s\u0103pt\u0103m\u00e2ni gesta\u0163ionale), de sex masculin, n\u0103scut prin opera\u0163ie cezarian\u0103 \u00een Clinica de Obstetric\u0103-Ginecologie a Spitalului Universitar de Urgen\u0163\u0103 \u201eElias\u201d, cu hipotonie sever\u0103. Nou-n\u0103scutul a avut parametrii respiratori \u015fi cardiovasculari normali, \u00eens\u0103 examenul clinic a relevat hipotonie sever\u0103, reactivitate sc\u0103zut\u0103 \u015fi hipogonadism. Factorii de risc r\u0103m\u00e2n necunoscu\u0163i pentru acest caz, deoarece nu a existat niciun risc suplimentar identificat prenatal. O particularitate a acestui caz este faptul c\u0103 nou-n\u0103scutul prezint\u0103 de la na\u015ftere hipotonie sever\u0103 \u015fi dificult\u0103\u0163i de alimenta\u0163ie. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\"> Introducere<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sindromul Prader-Willi (PWS) este o afec\u0163iune ereditar\u0103, care apare prin microdele\u0163ie la nivelul cromozomului 15 patern, \u00een aproximativ 70% dintre cazuri, iar celelalte cazuri sunt datorate disomiei uniparentale sau altor mecanisme incomplet elucidate.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Erorile la amprentarea genomic\u0103 care apar \u00een timpul gametogenezei masculine \u015fi feminine \u00een sindromul Prader-Willi includ pierderea expresiei genelor paterne, care sunt \u00een mod normal active \u015fi localizate \u00een regiunea cromozomului 15q11-q13<sup>(1,2)<\/sup>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">De\u015fi diagnosticul poate fi u\u015for stabilit, \u00eenc\u0103 din perioada neonatal\u0103, datorit\u0103 caracteristicilor clinice evidente, este necesar\u0103 \u015fi folosirea metodelor moderne de testare la nivel molecular pentru confirmarea diagnosticului<sup>(3)<\/sup>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Prenatal.&nbsp;<\/strong>Diagnosticul prenatal se face rar, dar teoretic ar putea s\u0103 fie suspectat \u00een cazul mi\u015fc\u0103rilor fetale reduse \u015fi al polihidramniosului<sup>(4)<\/sup>. De asemenea, se pot efectua teste genetice ob\u0163inute din vilozit\u0103\u0163i coriale \u015fi amniocentez\u0103<sup>(5)<\/sup>. Dimensiunea fetal\u0103 este \u00een general \u00een limite normale, hipotonia prenatal\u0103 are ca rezultat, de obicei, sc\u0103derea mi\u015fc\u0103rilor fetale \u015fi pozi\u0163ia anormal\u0103 a f\u0103tului la na\u015ftere, ceea ce duce la cre\u015fterea inciden\u0163ei de na\u015ftere prin opera\u0163ie cezarian\u0103. Greutatea la na\u015ftere \u015fi indicele de mas\u0103 corporal\u0103 sunt, \u00een medie, cu 15% mai sc\u0103zute dec\u00e2t cele normale.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Postnatal.&nbsp;<\/strong>Caracteristicile clinice ale nou-n\u0103scutului cu sindrom Prader-Willi sunt hipotonia sever\u0103 observat\u0103 \u00een mod constant la na\u015ftere \u015fi \u00een timpul perioadei neonatale.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Hipotonia din perioada neonatal\u0103 este asociat\u0103 cu un pl\u00e2nset slab, letargie \u015fi supt redus, ceea ce necesit\u0103 tehnici speciale de hr\u0103nire.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Alte tr\u0103s\u0103turi ale sindromului Prader-Willi sunt cre\u015fterea insuficient\u0103 \u00een perioada de sugar, statura mic\u0103, letargia, dificult\u0103\u0163i de hr\u0103nire, saliva groas\u0103 \u015fi raportul circumferin\u0163ei cap-piept crescut, hipogonadism at\u00e2t la b\u0103rba\u0163i, c\u00e2t \u015fi la femei, cu criptorhidie frecvent\u0103 la b\u0103rba\u0163i<sup>(6,7)<\/sup>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Hipotonia este asociat\u0103 cu mi\u015fc\u0103ri fetale sc\u0103zute, pozi\u0163ie anormal\u0103 a f\u0103tului \u015fi dificult\u0103\u0163i de mi\u015fcare \u00een timpul na\u015fterii. Hipotonia din perioada neonatal\u0103 este asociat\u0103 cu un pl\u00e2nset slab, letargie \u015fi supt redus, ceea ce necesit\u0103 tehnici speciale de hr\u0103nire. Drept consecin\u0163\u0103, reflexele sunt afectate&nbsp;\u015fi achizi\u0163iile motorii sunt \u00eent\u00e2rziate.&nbsp;De\u015fi hipotonia se va \u00eembun\u0103t\u0103\u0163i treptat, adul\u0163ii cu PWS r\u0103m\u00e2n u\u015for hipotonici<sup>(3,5)<\/sup>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Manifest\u0103rile clinice se continu\u0103 \u015fi \u00een perioada copil\u0103riei, la copiii netrata\u0163i, incluz\u00e2nd hiperfagie, urmat\u0103 de obezitate morbid\u0103, cre\u015fterea \u00eent\u00e2rziat\u0103 \u015fi alte caracteristici dismorfice, incluz\u00e2nd bradicefalie, ochii migdala\u0163i, comisuri bucale cu orientare \u00een jos, m\u00e2ini \u015fi picioare mici.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Copiii cu sindromul Prader-Willi prezint\u0103 tulbur\u0103ri cognitive \u015fi retard mintal slab p\u00e2n\u0103 la moderat, cu probleme comportamentale frecvent \u00eent\u00e2lnite, caracterizate prin accese temperamentale, \u00eenc\u0103p\u0103\u0163\u00e2nare \u015fi temperament compulsiv.<br><\/p>\n\n\n\n<figure class=\"wp-block-image\"><a href=\"https:\/\/www.medichub.ro\/image\/4668\/0\/figura_1_mecanismul_genetic_in_sindromul_prader_willi_4668.png\"><img decoding=\"async\" src=\"https:\/\/www.medichub.ro\/image\/4668\/0\/figura_1_mecanismul_genetic_in_sindromul_prader_willi_4668.png\" alt=\"Figura 1. Mecanismul genetic \u00een sindromul Prader-Willi\"\/><\/a><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Figura 1. Mecanismul genetic \u00een sindromul Prader-Willi\n\n<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Diagnostic diferen\u0163ial.&nbsp;<\/strong>Pacien\u0163ii testa\u0163i pentru sindromul Prader-Willi cu rezultate negative trebuie s\u0103 fie investiga\u0163i \u015fi pentru alte dele\u0163ii \u015fi duplic\u0103ri cromozomiale, precum \u015fi pentru posibile defecte monogenice care sunt asociate caracteristicilor acestui sindrom. Testul FISH poate stabili diagnosticul diferen\u0163iat \u00eentre sindromul Angelman \u015fi sindromul Prader-Willi, deoarece \u015fi acesta prezint\u0103 tr\u0103s\u0103turi asem\u0103n\u0103toare, respectiv hipotonie \u015fi dificult\u0103\u0163i de hr\u0103nire. Dac\u0103 \u00een cazul sindromului Prader-Willi dele\u0163ia are cauz\u0103 patern\u0103, \u00een cazul sindromului Angelman defectul genetic se datoreaz\u0103 unei dele\u0163ii pe cromozomul 15q11.2-q13 matern.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">De asemenea, alte sindroame cu obezitate genetic\u0103, cum sunt sindromul Bardet-Biedel \u015fi sindromul X fragil, asociate cu tulbur\u0103ri cognitive, pot provoca uneori confuzii clinice. \u00cen cazul sindromului Bardet-Biedel, de\u015fi tulbur\u0103rile de vedere nu se observ\u0103, \u00een mod obi\u015fnuit, p\u00e2n\u0103 la v\u00e2rsta de 6-8 ani, sunt prezente alte tr\u0103s\u0103turi \u00een fenotipuri, cum este polidactilia (dou\u0103 din trei cazuri) sau brahidactilia, care pot stabili diagnosticul diferen\u0163ial precoce<sup>(8,9,10)<\/sup>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Stabilirea precoce a diagnosticului \u015fi introducerea imediat\u0103 a terapiei corespunz\u0103toare au dus la reducerea mortalit\u0103\u0163ii \u015fi prevenirea complica\u0163iilor postnatale, cu \u00eembun\u0103t\u0103\u0163irea semnificativ\u0103 a calit\u0103\u0163ii vie\u0163ii.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><a href=\"https:\/\/www.medichub.ro\/image\/4669\/0\/figura_2_hipotonie_neonatala_4669.png\"><img decoding=\"async\" src=\"https:\/\/www.medichub.ro\/image\/4669\/0\/figura_2_hipotonie_neonatala_4669.png\" alt=\"Figura 2. Hipotonie neonatal\u0103 \"\/><\/a><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Figura 2. Hipotonie neonatal\u0103\n\n<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Managementul sindromului Prader-Willi se realizeaz\u0103 toat\u0103 via\u0163a \u015fi include sport, diet\u0103 \u015fi terapie comportamental\u0103<sup>(11,12)<\/sup>. La acestea se poate aplica terapia cu hormoni de cre\u015ftere<sup>(13)<\/sup>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Prognosticul nu este cel mai bun, dar \u00een ultimii ani calitatea vie\u0163ii acestor pacien\u0163i s-a \u00eembun\u0103t\u0103\u0163it, at\u00e2t timp c\u00e2t se poate crea un mediu special adaptat la nevoile lor speciale.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Prezentare de caz<br><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Prezent\u0103m cazul unui nou-n\u0103scut la termen, AGA, de sex masculin, BIII Rh pozitiv, n\u0103scut \u00een Clinica de Obstetric\u0103-Ginecologie a Spitalului Universitar de Urgen\u0163\u0103 \u201eElias\u201d, prin opera\u0163ie cezarian\u0103, prezenta\u0163ie cranian\u0103, v\u00e2rsta de gesta\u0163ie 38 de s\u0103pt\u0103m\u00e2ni, scor Apgar 9, greutate la na\u015ftere 2840 g, membrane intacte, contrac\u0163ii uterine dureroase, lichid aminiotic-oligoamnios, cordon ombilical spiralat, provenit din sarcin\u0103 urm\u0103rit\u0103 \u015fi investigat\u0103, cu evolu\u0163ie normal\u0103, screening infec\u0163ios negativ. Mama are 36 de ani, IG IP, grup sangvin BIII Rh pozitiv. Mama afirm\u0103 mi\u015fc\u0103ri fetale reduse \u00een sarcin\u0103 \u015fi polihidramnios. AHC &#8211; nepot matern cu celiachie.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>La na\u015ftere:&nbsp;<\/strong>tegumente rozate, acrocianoz\u0103,&nbsp;<em>vernix caseosa<\/em>, plicatur\u0103 plantar\u0103 \u00bd ant, CO alb sidefiu, 2AA, 1v, craniu osificat, FA-1\/1 cm normotensiv\u0103, torticolis pozi\u0163ional dreapta AV&gt;100 bpm, zgomote cardiace ritmice, respir\u0103 spontan MV simetric bilateral, cavitatea bucal\u0103 cu aspect normal, abdomen suplu, OGE de sex masculin, testicule absente \u00een scrot, OGE hipodezvoltate, tonus &#8211; hipotonie moderat\u0103 spre sever\u0103, reactivitate sc\u0103zut\u0103.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Evolu\u0163ia \u00een maternitate:<\/strong>&nbsp;nou-n\u0103scutul este plasat \u00een TINN. Pe perioada intern\u0103rii prezint\u0103 hipotonie persistent\u0103, predominant axial\u0103, reactivitate prezent\u0103 sc\u0103zut\u0103, ROT prezente, reflex de supt, degluti\u0163ie prezent\u0103. A primit PEV de reechilibrare hidroelectrolitic\u0103 (70 ml lichide\/kgc) \u015fi s-a ini\u0163iat alimenta\u0163ie enteral\u0103 trofic\u0103, ini\u0163ial prin gavaj, ulterior biberon. A primit antibioterapie profilactic\u0103 cu ampicilin\u0103. Pe parcursul intern\u0103rii evolu\u0163ia a fost lent favorabil\u0103, curba ponderal\u0103 fiind lent ascendent\u0103.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Investiga\u0163ii paraclinice:\u00a0<\/strong>hemograma se men\u0163ine \u00een limite normale, AGS: Ph 7,45, pCO 28 mmHg, pO<sub>2\u00a0<\/sub>&#8211; 120 mmHg, FiO<sub>2\u00a0<\/sub>&#8211; 21%, Na 10 mEq\/l, K 4,4 mEq\/l, Ca 1,25 mmol\/l, glucoza 45 mg\/dl prereandial, Lac 1,9 mmol\/l, HT 45%, BE &#8211; 5 mmol\/l; glicemii glucotest repetate la valori normale, PCR \u00een dinamic\u0103: 15,6 mg\/L (valori normale &lt;10 mg\/L), CK, CK-MB &#8211; \u00een limite normale.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><a href=\"https:\/\/www.medichub.ro\/image\/4670\/0\/figurile_3_si_4_nou_nascut_38_s_2840_g_cu_hipotonie_severa_reactivitate_scazuta_hipogonadism_4670.png\"><img decoding=\"async\" src=\"https:\/\/www.medichub.ro\/image\/4670\/0\/figurile_3_si_4_nou_nascut_38_s_2840_g_cu_hipotonie_severa_reactivitate_scazuta_hipogonadism_4670.png\" alt=\"Figurile 3 \u015fi 4. Nou-n\u0103scut 38 s, 2840 g, cu hipotonie sever\u0103, reactivitate sc\u0103zut\u0103, hipogonadism\"\/><\/a><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Figurile 3 \u015fi 4. Nou-n\u0103scut 38 s, 2840 g, cu hipotonie sever\u0103, reactivitate sc\u0103zut\u0103, hipogonadism <\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Ecografie transfontanelar\u0103&nbsp;<\/strong>&#8211; \u00een limite normale.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Consult neurologic:&nbsp;<\/strong>copil hipoton &#8211; papu\u015f\u0103 de c\u00e2rp\u0103 cu ROT foarte greu de ob\u0163inut. Postur\u0103 de batracian. Tonus sc\u0103zut. For\u0163\u0103 sc\u0103zut\u0103. Reactivitate &#8211; trezit cu dificultate din somn, fixeaz\u0103 pentru scurt timp, nu pl\u00e2nge, obose\u015fte la supt, dar suge singur. A fost gavat \u00een primele zile.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Screening metabolic extins&nbsp;<\/strong>(cytogenomic): negativ pentru afec\u0163iunile investigate.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Rezultatul analizei genetice:<\/strong>&nbsp;cariotip 46, xy &#8211; cariotip masculin normal.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Rezultatul analizei MS-MLPA&nbsp;<\/strong>a identificat un profil de metilare indicativ pentru sindromul Prader-Willi. Sindromul Prader-Willi este consecin\u0163a mai multor defecte genetice \u00een regiunea 15q11-q13, \u00eentre care \u015fi modific\u0103rile de metilare, \u015fi este asociat, la nou-n\u0103scu\u0163i, cu hipotonie, dificult\u0103\u0163i de hr\u0103nire, cre\u015ftere reduse \u015fi retard de dezvoltare.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Concluzii<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sindromul Prader-Willi este o afec\u0163iune ereditar\u0103 care apare prin microdele\u0163ie la nivelul cromozomului 15 patern. Caracteristicile clinice ale nou-n\u0103scutului cu sindrom Prader-Willi sunt hipotonia sever\u0103 observat\u0103 \u00een mod constant la na\u015ftere \u015fi \u00een timpul perioadei neonatale. Nu sunt citate complica\u0163ii obstetricale specifice \u00een timpul sarcinii, dar este recomandat\u0103 na\u015fterea prin opera\u0163ie cezarian\u0103. \u00cen majoritatea cazurilor, diagnosticul definitiv depinde de investiga\u0163iile postnatale.\u00a0<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Articolul &#8222;Sindromul Prader-Willi &#8211; prezentare de caz \u0219i revizuirea literaturii&#8221; scris de c\u0103tre Simona Vl\u0103d\u0103reanu,\u00a0Ana Maria M\u0103re\u015fescu,\u00a0Aurora Popa (24 decembrie 2017 ) poate fi g\u0103sit aici: <a href=\"https:\/\/www.medichub.ro\/reviste\/perinatologia\/sindromul-prader-willi-prezentare-de-caz-si-revizuirea-literaturii-id-1435-cmsid-72\">https:\/\/www.medichub.ro\/reviste\/perinatologia\/sindromul-prader-willi-prezentare-de-caz-si-revizuirea-literaturii-id-1435-cmsid-72<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Ce putem spune despre noi mai simplu de at\u00e2t? Suntem p\u0103rin\u021bii lui \u0218tefan, iar el are sindromul Prader-Willi. Despre el este articolul urm\u0103tor, pe care \u00eel cit\u0103m \u00een \u00eentregime. Rezumat Sindromul Prader-Willi<a class=\"moretag\" href=\"https:\/\/www.prader-willi.ro\/index.php\/despre-noi\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-28","page","type-page","status-publish","hentry"],"jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/www.prader-willi.ro\/index.php\/wp-json\/wp\/v2\/pages\/28","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.prader-willi.ro\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.prader-willi.ro\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.prader-willi.ro\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.prader-willi.ro\/index.php\/wp-json\/wp\/v2\/comments?post=28"}],"version-history":[{"count":2,"href":"https:\/\/www.prader-willi.ro\/index.php\/wp-json\/wp\/v2\/pages\/28\/revisions"}],"predecessor-version":[{"id":143,"href":"https:\/\/www.prader-willi.ro\/index.php\/wp-json\/wp\/v2\/pages\/28\/revisions\/143"}],"wp:attachment":[{"href":"https:\/\/www.prader-willi.ro\/index.php\/wp-json\/wp\/v2\/media?parent=28"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}