Dual Myelomeningoceles in Twins: Case Report, Review, and Insights for Etiology

Abstract

<b><i>Introduction:</i></b> Despite folate supplementation, neural tube defects (NTDs) still occur in 0.5–1.0/1,000 pregnancies, with 30–50% not preventable with folate. Twinning has increased due to artificial fertilization and in itself predisposes to NTDs at a rate of 1.6/1,000. The contributions of genetic and environmental factors to myelomeningocele development remain poorly understood. Expression patterns of congenital pathologies in twins can sometimes provide etiological insight. Concordance of NTDs in twins is 0.03/1,000, with dual myelomeningocele reported in only 23 pairs, only one of which survived. We present the 24th pair, the 1st to maintain lower extremity motor function. We review all prior cases and discuss implications of twin concordance on the interplay of genetic and environmental influences. <b><i>Case Report and Review:</i></b> A new case of female monozygotic twins born to a well-nourished 24-year-old female is reported with details of perioperative care. Prenatal ultrasound showed L3-S4 and L5-S4 myelomeningoceles, Chiari II malformations, and ventriculomegaly. Copy number microarray was unrevealing. Each underwent uncomplicated repair on day of life 1, and ventriculoperitoneal shunt placement on days of life 10 and 16. Both had movement in the legs upon 6-week follow-up. All prior reported cases of concordant twin myelomeningoceles were abstracted and analyzed, revealing persistence of occurrence despite folate supplementation and a majority occurring in dizygotic pairs. The literature is also reviewed to summarize current knowledge of myelomeningocele pathophysiology as it relates to genetic and environmental influences. <b><i>Discussion:</i></b> Meticulous surgical and perioperative care allowed for early positive outcomes in each twin. However, etiopathogenesis remains elusive. In general, only of a minority of cases have underlying genetic lesions or clear environmental triggers. Concordance in monozygotic twins argues for a strong genetic influence; yet, literature review reveals a higher rate of concordant dizygotic twins. This, along with the observation of differing resultant phenotypes in monozygotic twins as seen in this case, prompts further investigation into nonfolate environmental influences. While efforts in genetic investigation should continue, the role of teratogens and exposures should not be minimized in research efforts, public health, and family counseling. Clinical genetic testing remains of limited utility in the majority of patients until more is known.

Biocellulose patch technique for fetoscopic repair of open spina bifida in twin pregnancy

“…OSB in twins is a rare occurrence. A recent review found a total of 24 pregnancies with OSB, of which 11 pairs dizygotic and eight were monozygotic (zygosity not specified in the remaining five twin pairs) 16 . In this study, we present seven twin pregnancies with OSB, including one case of dual defect in a monochorionic diamniotic pregnancy.…”

Female monozygotic twins with sacral myelomeningocele

“…It has been reported that twinning predisposes to NTD and a higher rate of myelomeningocele has been observed in monozygotic twins compared with dizygotic twins. [ 8 ]…”

“…Folate deficiency in pregnancy is a major risk factor for NTD but other factors such as maternal use of drugs (valproic acid, carbamazepine, warfarin, and thalidomide), radiation exposure, maternal diabetes mellitus, maternal hyperthermia, mercury and lead exposures, as well as infections (rubella, cytomegalovirus, and toxoplasmosis) may impact the formation of NTD. [ 8 ]…”

“…The first two reports in medical literature of myelomeningocele in monozygotic twins were by Wright in 1899 and Eskelund and Bartels in 1941, while the first report in dizygotic twins was by Fry in 1943. [ 7 , 8 ]…”

“…Most cases of monozygotic twins with concurrent myelomeningocele reported in the literature were females, but the reason for this is unknown. [ 8 ]…”