{"id":67,"date":"2013-08-28T16:12:00","date_gmt":"2013-08-28T16:12:00","guid":{"rendered":""},"modified":"2026-08-13T12:27:52","modified_gmt":"2026-08-13T10:27:52","slug":"le-debut","status":"publish","type":"post","link":"https:\/\/kleefstrasyndrome.com\/fr\/the-beginning\/","title":{"rendered":"Les d\u00e9buts \u2013 De la grossesse jusqu&#x27;\u00e0 l&#x27;\u00e2ge de 17 mois."},"content":{"rendered":"<!-- Global site tag (gtag.js) - Google Analytics -->\n<script async=\"\" src=\"https:\/\/www.googletagmanager.com\/gtag\/js?id=UA-91563252-1\"><\/script>\n<script>\n  window.dataLayer = window.dataLayer || [];\n  function gtag(){dataLayer.push(arguments);}\n  gtag('js', new Date());\n\n  gtag('config', 'UA-91563252-1');\n<\/script>\n\n\n<p>D\u00e8s le d\u00e9but, nous pensions qu&#x27;il y avait quelque chose qui freinait sa croissance, mais nous esp\u00e9rions que tout cela n&#x27;\u00e9tait que le fruit de notre imagination et que, malgr\u00e9 son apathie g\u00e9n\u00e9rale et son manque d&#x27;int\u00e9r\u00eat, elle finirait par r\u00e9agir \u00e0 des stimuli comme ses camarades du m\u00eame \u00e2ge.<\/p>\n<p>Mais reprenons les choses depuis le d\u00e9but\u2026<\/p>\n<p>Ma s\u0153ur est tomb\u00e9e enceinte \u00e0 27 ans. Elle est n\u00e9e avec une m\u00e9ningomy\u00e9loc\u00e8le, une anomalie rare du syst\u00e8me nerveux central, et a \u00e9t\u00e9 op\u00e9r\u00e9e \u00e0 l\u2019\u00e2ge de 40 jours. Malgr\u00e9 ce que les m\u00e9decins avaient pr\u00e9dit, \u00e0 savoir qu\u2019elle serait paralys\u00e9e et souffrirait d\u2019hydroc\u00e9phalie, ma s\u0153ur a march\u00e9, a grandi et a fait ses \u00e9tudes normalement ; elle travaille aujourd\u2019hui comme enseignante.\u00a0;<\/p>\n<p>Sa grossesse a \u00e9t\u00e9 difficile. Au 3e mois, elle a eu un l\u00e9ger d\u00e9collement du placenta. Au 5e mois de grossesse (16e-18e semaine), elle a subi une amniocent\u00e8se, \u00e0 sa demande, qui a r\u00e9v\u00e9l\u00e9 que le f\u0153tus ne souffrait d\u2019aucun des syndromes connus. Au 7e mois de grossesse (28e semaine), elle a \u00e9t\u00e9 hospitalis\u00e9e dans une clinique priv\u00e9e car elle pr\u00e9sentait des contractions de travail. La petite pesait alors moins de 1,5 kg.\u00a0;<\/p>\n<p>Au cours des 8 semaines qu&#x27;elle a pass\u00e9es \u00e0 la clinique, elle a suivi un traitement antibiotique car on lui avait diagnostiqu\u00e9 une rupture importante du follicule et une perte de liquide ; on lui a prescrit un m\u00e9dicament pour \u00e9viter les contractions, ce qui augmentait de plus en plus son rythme cardiaque, si bien qu\u2019elle a \u00e9galement d\u00fb prendre des m\u00e9dicaments pour r\u00e9duire la tachycardie. Nous comptions 13 comprim\u00e9s par jour, en plus du fer et de l&#x27;acide folique.<\/p>\n<p>\u00c0 36 semaines et 3 jours, ma s\u0153ur a accouch\u00e9 par c\u00e9sarienne d&#x27;une petite fille pesant 2 315 g. Notre petite a mis quelques secondes \u00e0 respirer et on a d\u00fb l&#x27;aider artificiellement. Elle a imm\u00e9diatement \u00e9t\u00e9 plac\u00e9e en couveuse sous oxyg\u00e8ne diffus\u00e9, \u00ab quelques heures pour qu&#x27;elle reprenne ses esprits \u00bb, mais elle y est rest\u00e9e 12 jours. Dans la couveuse, on a constat\u00e9 qu\u2019elle souffrait de tachypn\u00e9e (elle respirait tr\u00e8s rapidement, \u00e0 un rythme sup\u00e9rieur \u00e0 la normale au repos). Lorsque, au bout de quelques jours, sa respiration s\u2019est quelque peu calm\u00e9e, elle ne parvenait pas \u00e0 s\u2019alimenter. Elle avait du mal \u00e0 t\u00e9ter, ce qui la fatiguait et provoquait une respiration rapide ; et au biberon\u2026 elle ne savait pas comment boire au biberon ! Pendant ces 12 jours, le b\u00e9b\u00e9 avalait le lait qu\u2019on lui donnait par une sonde reli\u00e9e directement \u00e0 son estomac. Peu apr\u00e8s, il a commenc\u00e9 \u00e0 boire au biberon. \u00c0 10 jours, il buvait d\u00e9j\u00e0 40 ml au biberon.<\/p>\n<p>Les trois premiers mois ont \u00e9t\u00e9 difficiles. Chaque jour, nous comptions la quantit\u00e9 qu&#x27;il mangeait \u00e0 chaque repas et nous faisions le total \u00e0 la fin de la journ\u00e9e pour voir s&#x27;il prenait du poids.<\/p>\n<p>(le poids de l&#x27;enfant * 150 = la quantit\u00e9 minimale qu&#x27;il doit manger chaque jour pour ne pas perdre de poids). Nous avions du mal \u00e0 la tenir correctement, elle ne tenait pas sa t\u00eate, nous avions tr\u00e8s peur des microbes et, dans l&#x27;ensemble, c&#x27;\u00e9tait une situation assez difficile.<\/p>\n<p>Un mois plus tard (\u00e0 l&#x27;\u00e2ge de 4 mois), lors d&#x27;un examen chez son p\u00e9diatre, un l\u00e9ger souffle cardiaque a \u00e9t\u00e9 d\u00e9tect\u00e9. Ma s\u0153ur, qui avait d\u00e9j\u00e0 travers\u00e9 bien des \u00e9preuves, s&#x27;est rendue chez un cardiologue p\u00e9diatrique pour des examens compl\u00e9mentaires, et celui-ci a constat\u00e9 une anomalie extr\u00eamement rare au niveau de son c\u0153ur. Des fistules coronaires multiples autour du c\u0153ur de l\u2019enfant et un canal art\u00e9riel persistant. Nous nous sommes rendus au Centre de chirurgie cardiaque Onassis \u00e0 Ath\u00e8nes pour une coronarographie, car il fallait d\u00e9terminer o\u00f9 le sang s\u2019\u00e9coulait \u00e0 partir depar ces fistules et dans quelle mesure cela affectait le fonctionnement de son c\u0153ur. En r\u00e9sum\u00e9, le fonctionnement de son c\u0153ur \u00e9tait tout \u00e0 fait normal et les fistules semblaient renvoyer le sang vers le c\u0153ur.<\/p>\n<p>\u00ab Nous allons suivre cela de pr\u00e8s \u00bb, nous ont-ils dit l\u00e0-bas\u2026<\/p>\n<p>Un mois plus tard (\u00e0 5 mois), nous avons craint une craniosynostose, car les fontanelles semblaient se refermer. Apr\u00e8s un scanner, il est apparu que les fontanelles \u00e9taient encore ouvertes, m\u00eame si sa t\u00eate a cess\u00e9 de grandir de mani\u00e8re significative \u00e0 partir de ce mois-l\u00e0.<\/p>\n<p>Au 6e mois, nous nous sommes assises toutes seules. Cependant, son d\u00e9veloppement semblait lent et son p\u00e9diatre nous a recommand\u00e9 une sp\u00e9cialiste du d\u00e9veloppement afin qu\u2019elle nous montre quelques exercices \u00e0 faire pour am\u00e9liorer sa motricit\u00e9. La sp\u00e9cialiste du d\u00e9veloppement a remarqu\u00e9 que son hypotonie s\u2019accompagnait d\u2019un retard psychomoteur plus g\u00e9n\u00e9ral. Nous avons fait les exercices et elle nous a revus \u00e0 9 mois. C\u2019est alors qu\u2019elle nous a dit que nous devions commencer des s\u00e9ances de kin\u00e9sith\u00e9rapie. Nous avons un peu h\u00e9sit\u00e9 au d\u00e9but : c\u2019\u00e9tait l\u2019hiver, les rhumes se succ\u00e9daient et la petite n\u2019avait pas encore int\u00e9gr\u00e9 un programme strict(elle n\u2019y allait que deux fois par semaine, \u00e0 de rares occasions). Nous avons poursuivi les s\u00e9ances de kin\u00e9sith\u00e9rapie, de mani\u00e8re intensive \u00e0 partir du 15e mois.<\/p>\n<p>\u00c0 l&#x27;\u00e2ge de 10 mois, on lui a diagnostiqu\u00e9 une hyperm\u00e9tropie. Nous \u00e9tions surpris de voir que la petite fixait intens\u00e9ment la lumi\u00e8re sans que cela semble la g\u00eaner, alors que nous, nous ne pouvions pas la regarder du tout. \u00ab Elle portera des lunettes et nous surveillerons son \u00e9volution \u00bb, nous a-t-on dit.<\/p>\n<p>\u00c0 12 mois, les choses se sont compliqu\u00e9es. La petite ne te regarde pas quand tu entres dans la pi\u00e8ce, elle ne te sourit pas, elle ne montre aucune curiosit\u00e9, elle ne bouge pas pour attraper un objet qui l&#x27;int\u00e9resse. Si tu la laisses \u00e0 un endroit le matin, c\u2019est l\u00e0 que tu la retrouveras le soir. Elle ne s\u2019appuie pas sur ses jambes et ne marche \u00e0 quatre pattes que tr\u00e8s peu. Au final, \u00ab une microc\u00e9phalie \u00e9tablie \u00bb, nous a dit le m\u00e9decin. Une affection qui n\u2019est pas apparue soudainement au cours de sa premi\u00e8re ann\u00e9e, mais qui s\u2019est manifest\u00e9e ces six derniers mois, et que nous ne voulions pas voir.<\/p>\n<p>Nous demandons \u00e9galement un deuxi\u00e8me avis \u00e0 une neurologue (Clinique p\u00e9diatrique de d\u00e9veloppement de l&#x27;h\u00f4pital Hippocrate, A. Fokas) qui nous confirme \u00e0 son tour que l&#x27;ensemble des sympt\u00f4mes semble s&#x27;inscrire dans le cadre d&#x27;un syndrome. C\u2019est \u00e9galement ce que nous a dit la p\u00e9diatre-d\u00e9veloppementaliste de notre petite fille.<\/p>\n<p>Le 28 mai, nous avons pass\u00e9 les examens pour d\u00e9pister les syndromes. Les r\u00e9sultats sont sortis le 27 juin. Syndrome de Kleefstra. Nous avons \u00e9t\u00e9 hospitalis\u00e9s pendant une semaine pour examiner le c\u0153ur, les reins, les poumons et les yeux, et pour r\u00e9aliser un \u00e9lectroenc\u00e9phalogramme ainsi que des examens immunologiques. Un bilan de sant\u00e9 complet, car il fallait d\u00e9sormais compl\u00e9ter une bibliographie mondiale.<\/p>\n<p>C\u0153ur : Les fistules ont diminu\u00e9 et il n&#x27;en reste plus que tr\u00e8s peu. Le canal art\u00e9riel reste ouvert, mais de toute fa\u00e7on, vers l&#x27;\u00e2ge de 7 ans, il subira une nouvelle coronarographie et nous le fermerons \u00e0 ce moment-l\u00e0.<\/p>\n<p>Poumons : normaux.<\/p>\n<p>Reins : Une petite kyste au niveau du rein gauche, sans gravit\u00e9, que nous allons surveiller.\u00a0;<\/p>\n<p>Vue : l&#x27;hyperm\u00e9tropie persiste au m\u00eame degr\u00e9 (5,0)<\/p>\n<p>L&#x27;\u00e9lectroenc\u00e9phalogramme est normal et les examens immunologiques sont tout aussi bons.<\/p>\n<p>Au 16e mois, elle a re\u00e7u le vaccin ROR (contre la rougeole, la varicelle et les oreillons) pr\u00e9vu au calendrier vaccinal. Depuis lors (\u00e0 partir du 16e mois), nous avons remarqu\u00e9 un comportement inhabituel chez la petite. Elle a commenc\u00e9 \u00e0 s\u2019exprimer davantage et \u00e0 manifester de la col\u00e8re. Sa col\u00e8re s\u2019accompagnait d\u2019un mouvement semblable \u00e0 un serrement des dents, accompagn\u00e9 d\u2019un hochement de t\u00eate qui signifiait clairement \u00ab Je ne veux pas \u00bb. La semaine derni\u00e8re (\u00e0 17,5 mois), elle a commenc\u00e9 \u00e0 avoir des spasmes. Des spasmes de courte dur\u00e9e, alors qu\u2019elle restait pleinement consciente. Aujourd\u2019hui, nous avons fait un \u00e9lectroenc\u00e9phalogramme et nous attendons les r\u00e9sultats\u2026<\/p>\n<p><em>*Cette section d\u00e9crit l&#x27;exp\u00e9rience personnelle d&#x27;une famille. Elle ne constitue ni une description de l&#x27;\u00e9volution de toutes les personnes atteintes du syndrome de Kleefstra, ni un avis m\u00e9dical.*<\/em><\/p>","protected":false},"excerpt":{"rendered":"<p>D\u00e8s le d\u00e9but, nous pensions qu&#x27;il y avait quelque chose qui freinait sa croissance, mais nous esp\u00e9rions tout de m\u00eame que\u2026<\/p>","protected":false},"author":1,"featured_media":1527,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_coblocks_attr":"","_coblocks_dimensions":"","_coblocks_responsive_height":"","_coblocks_accordion_ie_support":"","footnotes":""},"categories":[11],"tags":[],"class_list":["post-67","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-our-story"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>\u0397 \u03b1\u03c1\u03c7\u03ae \u2013 \u0391\u03c0\u03cc \u03c4\u03b7\u03bd \u03b5\u03b3\u03ba\u03c5\u03bc\u03bf\u03c3\u03cd\u03bd\u03b7 \u03bc\u03ad\u03c7\u03c1\u03b9 \u03c4\u03bf\u03c5\u03c2 17 \u03bc\u03ae\u03bd\u03b5\u03c2. - 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