Talk:Casus 5/@comment-25124951-20140720110318

 Neurofibromatosis type 1

 ·           Meest voorkomende familiaire ziekte waarbij perifere zenuw tumors voorkomen

 ·           Prevalentie: 1/3000

 ·           Symptomen: neurofibromen op huid, darmtumoren, kwaadaardige gliomen en juveniele chronisch myeloide leukemie.

 Neurofibromatose (NF) type 1 (ziekte van Recklinghausen) 

 -        Autosomaal dominante aandoening

 ¨         TUmorsuppressor gendefect op chromosoom 17, eiwit : neurofibromine

 -        Meest frequent voorkomende neurocutane aandoening (prevalentie 1:3.000)

 -        Perifeer type met veel huidafwijkingen

<p class="MsoNormal" style="margin-left:18.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l13 level1 lfo2;tab-stops:list 18.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Verdana","sans-serif"; mso-fareast-font-family:Verdana;mso-bidi-font-family:Verdana"> -        Kan oorzaak zijn van talloze andere afwijkingen

<p class="MsoNormal" style="margin-left:18.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l13 level1 lfo2;tab-stops:list 18.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Verdana","sans-serif"; mso-fareast-font-family:Verdana;mso-bidi-font-family:Verdana"> -        Symptomen

<p class="MsoNormal" style="margin-left:36.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l8 level1 lfo4;tab-stops:list 36.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ¨         Multiple café-au-lait maculae (CALM)

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l6 level1 lfo5;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Bij geboorte aanwezig en ontwikkeling in de eerste levensjaren

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l6 level1 lfo5;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     In grote aantallen (>6 of positieve familieanamnese)

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l6 level1 lfo5;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Ook bij andere aandoeningen

<p class="MsoNormal" style="margin-left:36.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l8 level1 lfo4;tab-stops:list 36.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ¨          Neurofibromen  (fibromateuze tumoren van de huid)

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l1 level1 lfo6;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Bij geboorte zelden aanwezig

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l1 level1 lfo6;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Ontwikkeling in de eerste 20 levensjaren

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l1 level1 lfo6;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Meestal onder vrij grote huidgebieden

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l1 level1 lfo6;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Gekenmerkt door huidverkleuring en/of beharing

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l1 level1 lfo6;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     2 soorten:

<p class="MsoNormal" style="margin-left:71.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l2 level1 lfo7;tab-stops:list 71.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ·            Oppervlakkig (dermaal) 

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l7 level1 lfo8;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    Knoopgatsfenomeen (pathognomonisch kenmerk): duwen <span style="font-size:11.0pt; line-height:115%;font-family:Wingdings;mso-ascii-font-family:Cambria; mso-ascii-theme-font:minor-latin;mso-hansi-font-family:Cambria;mso-hansi-theme-font: minor-latin;mso-bidi-font-family:"Segoe UI";mso-char-type:symbol;mso-symbol-font-family: Wingdings"> à  door een gaatje in de huid

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l7 level1 lfo8;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    Gaan uit van de uiteinden van perifere zenuwen

<p class="MsoNormal" style="margin-left:71.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l2 level1 lfo7;tab-stops:list 71.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ·            Plexiform 

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l16 level1 lfo9;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    Groter en veel meer in de diepte

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l16 level1 lfo9;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    In het beloop van zenuwwortels en perifere zenuwen

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l16 level1 lfo9;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    Groeien onvoorspelbaar

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l16 level1 lfo9;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    Hebben een maligne potentieel (sarcoom)

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l16 level1 lfo9;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    Veroorzaken pijn en uitval in het beloop van de aangedane wortel of zenuw

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l16 level1 lfo9;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    Diffuse doorgroei <span style="font-size:11.0pt;line-height:115%;font-family: Wingdings;mso-ascii-font-family:Cambria;mso-ascii-theme-font:minor-latin; mso-hansi-font-family:Cambria;mso-hansi-theme-font:minor-latin;mso-bidi-font-family: "Segoe UI";mso-char-type:symbol;mso-symbol-font-family:Wingdings"> à  moeilijk om te verwijderen

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l16 level1 lfo9;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    Maligne ontaarding: alleen palliatie

<p class="MsoNormal" style="margin-left:36.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l8 level1 lfo4;tab-stops:list 36.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ¨         Freckling (sproetjes) in oksels en liezen = teken van Crowe

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l12 level1 lfo12;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Ontwikkelen zich in de eerste 10 levensjaren

<p class="MsoNormal" style="margin-left:36.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l8 level1 lfo4;tab-stops:list 36.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ¨          ‘Lisch’ noduli in de iris 

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l11 level1 lfo13;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Zichtbaar met spleetlamponderzoek

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l11 level1 lfo13;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Ontstaan meestal pas in de schooljaren (5e levensjaar 20%, 10-jarigen 90% en na het 20e jaar bijna 100%)

<p class="MsoNormal" style="margin-left:36.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l8 level1 lfo4;tab-stops:list 36.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ¨          Tumoren van het CZS: 

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l0 level1 lfo10;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o      Opticusglioom  (MRI scan)

<p class="MsoNormal" style="margin-left:71.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l4 level1 lfo14;tab-stops:list 71.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ·           Aanwezig vanaf 5e jaar, ontstaan zelden na het 10e jaar

<p class="MsoNormal" style="margin-left:71.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l4 level1 lfo14;tab-stops:list 71.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ·           Groeien niet, zijn stationair

<p class="MsoNormal" style="margin-left:71.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l4 level1 lfo14;tab-stops:list 71.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ·           Goedaardig en in 75% asymptomatisch

<p class="MsoNormal" style="margin-left:71.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l4 level1 lfo14;tab-stops:list 71.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ·           Indien symptomatisch:

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l14 level1 lfo15;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    Geleidelijk visusverlies

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l14 level1 lfo15;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    Proptosis

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l14 level1 lfo15;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    Gezichtsvelddefecten

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l14 level1 lfo15;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    Eetstoornissen (anorexie, vetzucht)

<p class="MsoNormal" style="margin-left:88.8pt;text-indent:-18.0pt;line-height: 115%;mso-list:l14 level1 lfo15;tab-stops:list 88.8pt"><span style="font-size:11.0pt;line-height:115%;font-family:Wingdings;mso-fareast-font-family: Wingdings;mso-bidi-font-family:Wingdings"> §    Endocriene afwijkingen (vooral pubertas praecox)

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l0 level1 lfo10;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Brughoektumor

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l0 level1 lfo10;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Tumor perifere zenuw (schwannoom of plexiform neurofibroom)

<p class="MsoNormal" style="margin-left:36.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l8 level1 lfo4;tab-stops:list 36.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ¨         25% kleine gestalte, 40% groot hoofd

<p class="MsoNormal" style="margin-left:36.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l8 level1 lfo4;tab-stops:list 36.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ¨         Botafwijkingen

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l9 level1 lfo11;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Skoliose: dor vele kleine tumoren in het ruggenmerg

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l9 level1 lfo11;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Botdysplasie

<p class="MsoNormal" style="margin-left:36.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l8 level1 lfo4;tab-stops:list 36.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ¨         50-60% Subnormale intelligentie / ADHD-achtig <span style="font-size:11.0pt; line-height:115%;font-family:Wingdings;mso-ascii-font-family:Cambria; mso-ascii-theme-font:minor-latin;mso-hansi-font-family:Cambria;mso-hansi-theme-font: minor-latin;mso-bidi-font-family:"Segoe UI";mso-char-type:symbol;mso-symbol-font-family: Wingdings"> à  leerstoornissen

<p class="MsoNormal" style="line-height:115%">

<p class="MsoNormal" style="margin-left:18.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l13 level1 lfo2;tab-stops:list 18.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Verdana","sans-serif"; mso-fareast-font-family:Verdana;mso-bidi-font-family:Verdana"> -         Behandeling 

<p class="MsoNormal" style="margin-left:36.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l10 level1 lfo16;tab-stops:list 36.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ¨         50% van alle patiënten zal ooit een operatieve ingreep moeten ondergaan

<p class="MsoNormal" style="margin-left:36.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l10 level1 lfo16;tab-stops:list 36.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ¨         ADHD: methylfenidaat

<p class="MsoNormal" style="margin-left:36.0pt;text-indent:-18.0pt;line-height: 115%;mso-list:l10 level1 lfo16;tab-stops:list 36.0pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ¨         Neurofibromen:

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l3 level1 lfo17;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     CO2 laser (grof)

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l3 level1 lfo17;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Erbium Yag laser (fijn)

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l3 level1 lfo17;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Chirurgie

<p class="MsoNormal" style="margin-left:71.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l5 level1 lfo18;tab-stops:list 71.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:Symbol;mso-fareast-font-family: Symbol;mso-bidi-font-family:Symbol"> ·           Bij moeilijke locatie alleen palliatief = bestraling

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l3 level1 lfo17;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Elektrische lus

<p class="MsoNormal" style="margin-left:53.4pt;text-indent:-18.0pt;line-height: 115%;mso-list:l3 level1 lfo17;tab-stops:list 53.4pt"><span style="font-size:11.0pt;line-height:115%;font-family:"Courier New";mso-fareast-font-family: "Courier New""> o     Hoog percentage van recidieven

<p class="MsoNormal" style="line-height:115%"><span style="font-size:11.0pt;line-height:115%;font-family:"Calibri","sans-serif"; mso-ascii-theme-font:major-latin;mso-hansi-theme-font:major-latin">  

<p class="MsoNormal" style="line-height:115%">''' Zie NHG zeldzame ziekten! '''