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Dandy-Walker malformation

Dandy-Walker malformation. Stúdentarapp Eyjólfur Þorkelsson. Dandy-Walker complexinn (1). D-W malformation Cystísk víkkun á ventriculus IV Rostral tilfærsla á tentorium cerebelli stækkun á fossa post. Agenesis á vermis cerebelli algjör eða að hluta Atresia á foramen Magendie og Luschka.

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Dandy-Walker malformation

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  1. Dandy-Walker malformation Stúdentarapp Eyjólfur Þorkelsson

  2. Dandy-Walker complexinn (1) • D-W malformation • Cystísk víkkun á ventriculus IV • Rostral tilfærsla á tentorium cerebelli • stækkun á fossa post. • Agenesis á vermis cerebelli • algjör eða að hluta • Atresia á foramen Magendie og Luschka

  3. Dandy-Walker complexinn (2) • D-W variant • Hypoplasia á vermis cerebelli • ± víkkun á cisterna magna • Mega-cisterna magna • Eðlilegur vermis cbl. • Eðlilegur ventriculus IV

  4. DWM/V Nýgengi 1/11.574 greint við 20v M/F ~ 1,5:1 Litningabreytingar trisomia 21 trisomia 18 kynlitningafjöld ...ýmsar aðrar... MCM Nýgengi 1/8268 greint við 29v M/F ~ 4:1 Litningabreytingar trisomia 21 trisomia 18 Faraldursfræði

  5. Áhættuþættir á meðgöngu • Sýking á fyrsta þriðjungi • rubella • toxoplasma • cytomegalovirus • Alkóhól • Warfarin

  6. Meinmyndun • Að miklu á huldu • primer lokun á foramina? • gölluð migratio taugafrumna? • hvort tveggja? • heilablæðing in utero

  7. Klíník • Hydrocephalus • þróast á fyrstu mánuðunum • yfirleitt ekki congenitus • Áberandi protuberantia occipitalis externa • Ataxia • síðkomin • <20% • Neurologisk einkenni • epilepsia, seinþroski • ...mikil breidd

  8. Tengdir gallar • Agenesis corporis callosi • Holoprosencephalia • Tuba neuralis defectar • Klofinn gómur • Hjartagallar • Blöðrunýru

  9. Greining • Prenatal ómun / MRI • eftir 20v meðgöngu • vermis á að vera þroskaður • Postnatal CT / MRI • Krufning

  10. Meðferð • Miðast að hydrocephalus • Ventriculoperitoneal shunt • Cystoperitoneal shunt • Genaráðgjöf del18q23, pRT-PCR ...elegant

  11. Horfur • Almennt verri í DWM/V en MCM • oftar aðrar anomaliur samfara • dánartíðni 35-66% vs 16% • Hydrocephalus • ef greint og meðhöndlað snemma getur neurologiskur skaði verið lítill eða enginn

  12. Heimildir • Long A, Moran P, Robson S. Outcome of fetal cerebral posterior fossa anomalies. Prenat Diagn 2006; 26: 707-710 • Hay Jr WW, Levin MJ, Sondheimer JM, Deterding RR [editors]. Current Pediatric Diagnosis & Treatment, 17th ed. McGraw-Hill, 2005. • Kliegman RM, Marcdante KJ, Jenson HB, Behrman RE [editors]. Nelson Essential of Pediatrics, 5th ed. Elsevier, 2006 • Castro Conde JR, Doménech Martínez E, Cabrera RodríguezR, Rodríguez de Hoyos AL. CNS siderosis and Dandy-Walker variant after neonatal alloimmune thrombocytopenia.Pediatr Neurol 2005;32:346-349. • Inescu L, Khosla A. Dandy-Walker Malformation. eMedicine, 2003. http://www.emedicine.com/radio/topic206.htm#target8

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