November 2011
3
Inhoudsopgave
1
Voorwoord ...........................................................................................................................................4
1.1
Expertise centrum .............................................................................................................4
1.2
Patiëntenvereniging ..........................................................................................................4
1.3
Leeswijzer..........................................................................................................................5
2
Ziekte van Niemann-Pick type C...........................................................................................................6
2.1
Presentatie ........................................................................................................................6
2.2
Diagnostiek........................................................................................................................7
2.3
Behandeling.......................................................................................................................8
3
Begeleiding – Kinderen...................................................................................................................... 10
3.1
Patiënt en/of ouders .......................................................................................................11
3.2
Casemanager ...................................................................................................................11
3.3
Kinderarts Metabole Ziekten / (Kinder)neuroloog...........................................................11
3.4
Overige betrokken zorgverleners ....................................................................................16
4
Begeleiding – Volwassenen............................................................................................................... 17
4.1
Patiënt .............................................................................................................................18
4.2
Casemanager ...................................................................................................................18
4.3
Internist Metabole Ziekten / Neuroloog ..........................................................................18
4.4
Overige betrokken zorgverleners ....................................................................................22
5
Kwaliteitsindicatoren ........................................................................................................................ 24
6
Niemann-Pick disease type C – Latest Evidence ............................................................................... 25
6.1
Reference List ..................................................................................................................27
7
Consensus zorgpad Niemann-Pick type C ......................................................................................... 29
8
Disclaimer.......................................................................................................................................... 29