|Paper title||Dizygotic twins of different gender with concordant myelomeningocele: A Case Report And review of the literature.|
|Form of presentation||Poster|
Introduction: Myelomeningocele (MMC) is a common subtype of congenital neural tube defects (NTD). Twins show higher rates of NTD, whereas the concordance of spina bifida in dizygotic twins is extremely rare.
Methods: We present a case of dizygotic unlike-sex twins presenting with concordant MMC, live-born and surgically treated within 48h of life. For further analysis of a possible underlying genetic cause a genetic analysis of the twins is being performed.
Results: Dizygotic twins of different gender were born at term to a 35-year-old woman after an uneventful pregnancy. Due to infertility caused by endometriosis, the twins were conceived through ICSI without pre-implantational diagnostic. There was no family history of congenital malformations or consanguinity. Folic acid was supplemented peri-conceptually and throughout the whole pregnancy, while a mild gestational diabetes was treated with dietary cost only. At 18 weeks of gestation both twins were diagnosed with a lumbosacral MMC by ultrasound. The known MMC was accompanied by ventriculomegaly and Arnold-Chiari Malformation type II. Both twins underwent successful surgical repair of the MMC 48 hours after birth, while due to progressing hydrocephalus both underwent the insertion of a ventriculo-peritoneal shunt one week later. The further postoperative course was uneventful. The genetic analysis is still ongoing and will be presented.
Conclusion: Concordance of MMC in twins is a rare finding. Only 18 pairs of twins, of which 8 were dizygotic twins, have been described so far. Results of genetic analysis in twins with MMC is lacking in all reports so far. We will present a review of the literature, the results of our genetic analysis and discuss possible implications of these genetic results.