Spina bifida occulta and monozygotic twins

Case report

Barbara Spacca M.D. and Neil Buxton F.R.C.S.(NS)
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  • Department of Neurosurgery–Littlewoods Neuroscience Unit, Royal Liverpool Children's Hospital NHS Trust, Liverpool, United Kingdom
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Central nervous system maldevelopment can have different presentations in twins. We report on a case of different presentations of spina bifida occulta in monozygotic twins. The first twin presented at birth with a lipomyelomeningocele; a tethered cord was diagnosed in the second twin at 2 years of age. Neural tube defects (NTDs) are a group of common congenital malformations of the brain and spine generated during neurulation. The genetic basis of this process is still not well known. Whenever an NTD is diagnosed in one of a pair of twins, the other twin should also be evaluated for NTDs.

Abbreviations used in this paper:

LMMC = lipomyelomeningocele; NTD = neural tube defect; SBO = spina bifida occulta.

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  • 1

    Aubry MC, , Aubry JP, & Dommergues M: Sonographic prenatal diagnosis of central nervous system abnormalities. Childs Nerv Syst 19:391402, 2003

    • Search Google Scholar
    • Export Citation
  • 2

    Benoit B: The value of three-dimensional ultrasonography in the screening of the fetal skeleton. Childs Nerv Syst 19:403409, 2003

  • 3

    Chreston J, & Sherman SJ: Sonographic detection of lipomyelomeningocele: a retrospective documentation. J Clin Ultrasound 25:5051, 1997

    • Search Google Scholar
    • Export Citation
  • 4

    Copp AJ, , Greene ND, & Murdoch JN: The genetic basis of mammalian neurulation. Nat Rev Genet 4:784793, 2003

  • 5

    Forrester MB, & Merz RD: Precurrence risk of neural tube tedefects in siblings of infants with lipomyelomeningocele. Genet Med 7:457, 2005

    • Search Google Scholar
    • Export Citation
  • 6

    Frey L, & Hauser WA: Epidemiology of neural tube defects. Epilepsia 44:3 Suppl 413, 2003

  • 7

    Garabedian BH, & Fraser FC: A familial association between twinning and upper neural tube defects. Am J Hum Genet 55:10501053, 1994

  • 8

    Joosten PH, , Toepoel M, , Mariman EC, & Van Zoelen EJ: Promoter haplotype combinations of the platelet-derived growth factor α-receptor gene predispose to human neural tube defects. Nat Genet 27:215217, 2001

    • Search Google Scholar
    • Export Citation
  • 9

    Källén B, , Cocchi G, , Knudsen LB, , Castilla EE, , Robert E, & Daltveit AK, et al.: International study of sex ratio and twinning of neural tube defects. Teratology 50:322331, 1994

    • Search Google Scholar
    • Export Citation
  • 10

    Kannu P, , Furneaux C, & Aftimos S: Familial lipomyelomeningocele: a further report. Am J Med Genet A 132:9092, 2005

  • 11

    Kim SY, , McGahan JP, , Boggan JE, & McGrew W: Prenatal diagnosis of lipomyelomeningocele. J Ultrasound Med 19:801805, 2000

  • 12

    McNeely PD, & Howes WJ: Ineffectiveness of dietary folic acid supplementation on the incidence of lipomyelomeningocele: pathogenetic implications. J Neurosurg 100:2 Suppl Pediatrics 98100, 2004

    • Search Google Scholar
    • Export Citation
  • 13

    Muller F: Prenatal biochemical screening for neural tube defects. Childs Nerv Syst 19:433435, 2003

  • 14

    O'Rahilly R, & Muller F: Neurulation in the normal human embryo. Ciba Found Symp 181:7089, 1994

  • 15

    Rogner UC, , Danoy P, , Matsuda F, , Moore GE, , Stanier P, & Avner P: SNPs in the CpG island of NAP1L2: a possible link between DNA methylation and neural tube defects?. Am J Med Genet 110:208214, 2002

    • Search Google Scholar
    • Export Citation
  • 16

    Sebold CD, , Melvin EC, , Siegel D, , Mehltretter L, , Enterline DS, & Nye JS, et al.: Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele. Genet Med 7:6467, 2005

    • Search Google Scholar
    • Export Citation
  • 17

    Seeds JW, & Power SK: Early prenatal diagnosis of familial lipomyelomeningocele. Obstet Gynecol 7:469471, 1988

  • 18

    Speer MC, , Melvin EC, , Viles KD, , Bauer KA, , Rampersaud E, & Drake C, et al.: T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families. Am J Med Genet 110:215218, 2002

    • Search Google Scholar
    • Export Citation
  • 19

    Volcik KA, , Blanton SH, , Kruzel MC, , Townsend IT, , Tyerman GH, & Mier RJ, et al.: Testing for genetic associations in a spina bifida population: analysis of the HOX gene family and human candidate gene regions implicated by mouse models of neural tube defects. Am J Med Genet 110:203207, 2002

    • Search Google Scholar
    • Export Citation
  • 20

    Volcik KA, , Blanton SH, , Kruzel MC, , Townsend IT, , Tyerman GH, & Mier RJ, et al.: Testing for genetic associations with the PAX gene family in a spina bifida population. Am J Med Genet 110:195202, 2002

    • Search Google Scholar
    • Export Citation
  • 21

    Windham GC, & Bjerkedal T: Malformations in twins and their siblings, Norway, 1967–79. Acta Genet Med Gemello (Roma) 33:8795, 1984

  • 22

    Windham GC, & Sever LE: Neural tube defects among twin births. Am J Hum Genet 34:988989, 1982

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