Skip to main content

Advertisement

Log in

Notomelia and related neural tube defects in a baby born in Niger: case report and literature review

  • Case Report
  • Published:
Child's Nervous System Aims and scope Submit manuscript

An Erratum to this article was published on 26 July 2017

This article has been updated

Abstract

Introduction

Notomelia associated with neural tube defects are rare diseases.

Case report

A baby was born in Niger with multiple congenital embryonic malformations on the posterior midline. The most rostral malformation was an accessory limb (polymelia) at the level of the lumbar vertebrae composed of two long bones, a foot and three toes. Accessory male genitalia were present at the base of this malformed accessory limb which had no apparent motor or sensory innervation. The second malformation was a sacral vestigial appendage with an adjacent dermal sinus opening onto the posterior midline and extending internally to the dura through a defect of the vertebral arches. From the published literature and this particular case, we conclude that notomelia is a rare clinical sequela of a neural tube defect (NTD) and is correctly classified as a dysraphic appendage.

Conclusion

The recent occurrence of three similar cases in the same ethnic group from Niger, three from consanguineous parents, suggests that genetic factors are likely to contribute significantly to the genesis of this syndrome, consistent with a recent report that mutation of the bovine NHLRC2 gene resulting in a V311A substitution at a highly conserved locus in the NHLRC2 protein is, when homozygous, causally associated with several forms of polymelia including notomelia, with heteropagus conjoined twinning and with other NTD-related embryonic malformations. Detailed genome-wide studies of children with dysraphic appendages are indicated.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

Change history

  • 26 July 2017

    An erratum to this article has been published.

References

  1. Malacarne V (1802) De’ mostri umani de’ caratteri fondamentali su cui se ne potrebbe stabilire la classificazione e delle indicazioni che presentano nel parto lezioni accademiche. Memorie di matematica e di fisica della societa’ Italiana delle scienze 9:49–84

    Google Scholar 

  2. Crosby JL, Varnum DS, Washburn LL, Nadeau JH (1992) Disorganization is a completely dominant gain-of-function mouse mutation causing sporadic developmental defects. Mech Dev 37:121–126

    Article  CAS  PubMed  Google Scholar 

  3. Theodosiou NA, Sheng Z, Wei-Yi W, Tian X (1998) Slimb coordinates wg and dpp expression in the dorsal-ventral and anterior-posterior axes during limb development. Development 125:3411–3416

    CAS  PubMed  Google Scholar 

  4. Chadha R, Bagga D, Malhotra CJ, Dhar A, Kumar A (1993) Accessory limb attached to the back. J Pediatr Surg 28:1615–1617

    Article  CAS  PubMed  Google Scholar 

  5. Chadha R, Lal P, Singh D, Sharma A, Choudhury SR (2006) Lumbosacral parasitic rachipagus twin. J Pediatr Surg 41:E45–E48

    Article  PubMed  Google Scholar 

  6. Gamanagatti S, Garg R, Srivastava DN, Gupta A, Aggarwal S (2003) Spinal dysraphism with accessory thigh. Pediatr Radiol 33:809–810

    Article  PubMed  Google Scholar 

  7. Garg K, Kumar R (2013) Complex spinal dysraphism with multiple anomalies. Pediatr Neurosurg 49:126–128

    Article  PubMed  Google Scholar 

  8. Khan RA, Wahab S, Ghani I (2009) Tripedus: a form of rachipagus twinning. Cong Anomal (Kyoto) 49:280–281

    Article  Google Scholar 

  9. Krishna A, Chandna S, Mishra NK, Gupta AK, Upadhyaya P (1989) Accessory limb associated with spina bifida. J Pediatr Surg 24:604–606

    Article  Google Scholar 

  10. Krishna A, Lal P (1999) Accessory limbs associated with spina bifida—a second look. Pediatr Surg Int 15:248–250

    Article  CAS  PubMed  Google Scholar 

  11. Ratan SK, Rattan KN, Magu S, Rohilla S, Purwar P, Mathur SK (2004) Thoracolumbar rachipagus parasite. Pediatr Surg Int 20:298–300

    PubMed  Google Scholar 

  12. Sharma L, Singh RB, Bhargava JS, Sharma VK (1991) Accessory limbs with spinal lesions. Pediatr Surg Int 6:227–229

    Article  Google Scholar 

  13. Tahilyani NDA, Singh KM (1976) Occipital teratoma bearing digits and nails. Br J Surg 63:493

    Article  CAS  PubMed  Google Scholar 

  14. Aykol D, Baltaci V, Kozinoglu H, Yürsel K, Kis S, Ciçek N, Güngör T (1999) Accessory limb attached to the back. Tr J Med Sci 29:199–201

    Google Scholar 

  15. Bayri Y, Tanrikulu B, Eksi MS, Dagçmar A (2014) Accessory lower limb associated with spina bifida: case report. Childs Nerv Syst 30:2123–2126

    Article  PubMed  Google Scholar 

  16. Ilekan H, Coban YK, Guven MA, Ceylaner S (2004) Three new cases of disorganizationlike syndrome: one with accessory extrophia vesicalis. J Pediatr Surg 39:E34

    Google Scholar 

  17. Lende G, Wendemu W, Morck S, Wester K (2007) A girl with spina bifida, an extra leg, and ectopic intestinal loops—a “foetus in foetu” or a whim of the neural crest? Acta Neurochir 149:1071–1075

    Article  CAS  PubMed  Google Scholar 

  18. Sahlu A, Mesfin B, Tirsit A, Debebe T, Webster K (2016) Parasitic twin—a supernumerary limb associated with spinal malformations. A case report. Acta Neurochir 158:611–614

    Article  PubMed  Google Scholar 

  19. Kelani AB, Moumouni H, Younsa H, James Didier L, Hima AM, Guemou A, Issa AW, Ibrahim A, Sanda MA, Sani R, Sanoussi S, Catala M (2016) A case of cephalomelia discovered in a baby born in Niger. Childs Nerv Syst 32:205–208

    Article  PubMed  Google Scholar 

  20. Sanoussi S, Rachid R, Sani CM, Mahamane B, Addo G (2010) Rachipagus: a report of two cases in thoracic and lumbar. J Surg Tech Case Rep 2:27–29

    Article  PubMed  PubMed Central  Google Scholar 

  21. Jones R, Larkin FC (1889) Removal of accessory limb and meningocele from the back of a child, and its anatomy. Br Med J 2:310–311

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Tucker EA (1895) Fetal abnormality. Am J Obst 31:112

    Google Scholar 

  23. Pierre-Kahn A, Zerah M, Renier D, Cinalli G, Sainte-Rose C, Lellouch-Tubiana A, Brunelle F, Le Merrer M, Giudicelli Y, Pichon J, Kleinknecht B, Nataf F (1997) Congenital lumbosacral lipomas. Childs Nerv Syst 13:298–334

    Article  CAS  PubMed  Google Scholar 

  24. Poradowska W, Jaworska M, Reske S, Lodzinski K (1969) Conjoined twins and twin parasite: clinical analysis of three examples. J Pediatr Surg 4:688–693

    Article  CAS  PubMed  Google Scholar 

  25. Navaei AA, Habibi Z, Moradi E, Nejat F (2015) Parasitic rachipagus twins; report of two cases. Childs Nerv Syst 31:1001–1003

    Article  PubMed  Google Scholar 

  26. Shirani M, Mohammedi SM, Spencer R (2005) Parasitic rachiopagus conjoined twins with herniation of the autosite spinal cord into the parasite: case report. J Pediatr Surg 40:1484–1485

    Article  PubMed  Google Scholar 

  27. Spencer R (1995) Rachipagus conjoined twins: they really do occur! Teratology 52:346–356

    Article  CAS  PubMed  Google Scholar 

  28. Denholm LJ, Martin LE, Teseling CF, Parnell PF, Beever JE (2014) Developmental duplications (DD): 2. Mutation of the NHLRC2 gene causes neural tube defects in Angus cattle with multiple congenital malformation phenotypes that include axial and limb duplications, heteropagus conjoined twins, midbrain and forebrain malformations including pseudoholoprosencephalon, craniofacial dysmorphogenesis, micropthalmia, diprosopus, embryogenic teratomas, dermoid cysts, myolipomas, split cord malformation and cranial and spinal dysraphism XXVIIIth World Buiatrics Congress. Cairns, Australia

  29. Beever JE, Marron BM, Parnell PF, Teseling CF, Steffen DJ, Denholm LJ (2014) Developmental duplications (DD): 1. Elucidation of the underlying molecular genetic basis of polymelia phenotypes in Angus cattle. XXVIIIth World Buiatrics Congress, Cairns, Australia

    Google Scholar 

  30. Parnell PF, Teseling CF, Denholm LJ and Beever JE (2014) Developmental duplications (DD): 3. Evidence of the frequency and impact of the causal mutation in the recorded Angus population and strategies adopted to reduce the carrier frequency using selective DNA based diagnostic testing, computation of associated genotype classes and publication of carrier probabilities to assist in future breeding decisions. XXVIIIth World Buiatrics Congress. Cairns, Australia

  31. Denholm LJ, Marron BE, Parnell PF, Teseling CF, Beever JE (2015) Pleiotropic embryonic malformation associated with cranial and caudal neural tube defects from a single amino-acid substitution (V311A) at a conserved locus in the NHLRC2 protein. 9th International Conference on Neural Tube Defects, Austin, TX

  32. Delhotal JD, Marron BM, Phillips AM, Denholm LJ, Beever JE (2016) Characterization of a mouse model for bovine developmental duplications. XXIV International Plant and Animal Genome Conference, San Diego, CA, USA, January 2016 at https://pag.confex.com/pag/xxiv/webprogram/Person40136.html

  33. Fulmer BB, Wilkins RH, Oakes WJ, Filston HC (1997) Midline dorsal appendages. Pediatr Neurosurg 27:242–245

    Article  CAS  PubMed  Google Scholar 

  34. Humphreys RP, Manwaring KH, Carroll NC (1991) Accessory arm—dysraphism or disparity? J Neurosurg 74:297–300

    Article  CAS  PubMed  Google Scholar 

  35. Murphy RF, Cohen BH, Muhlbauer MS, Eubanks JW III, Sawyer JR, Moisan A, Kelly DM (2013) An accessory limb with lipomyelomeningocele in a male. Pediatr Surg Int 29:749–752

    Article  PubMed  Google Scholar 

  36. Parks C, Mugamba J (2014) Accessory limb with myelomeningocele: a rare case challenging previously held beliefs. Childs Nerv Syst 30:2127–2128

    Article  PubMed  Google Scholar 

  37. Snelling CMH, Ellis PM, Smith RML, Rossier JP (2008) Lipomatous lumbar mass with an attached digit and associated split cord malformation. Can J Neurol Sci 35:250–254

    Article  CAS  PubMed  Google Scholar 

  38. Ringo Y, Drake D, Sillo T, Lakhoo K (2012) Parasitic twin within spina bifida. African J Paediatr Surg 9:240–242

    Article  Google Scholar 

  39. Nanni L, Perrelli L, Velardi F (1994) Accessory lower limb in a newborn with multiple malformations. Eur J Pediatr Surg 4:51–53

    Article  CAS  PubMed  Google Scholar 

  40. Amirjamshidi A, Abbassioun K, Shirani Bidabadi M (2006) Skin-covered midline spinal anomalies: a report of four rare cases with a discussion on their genesis and milestones in surgical management. Childs Nerv Syst 22:460–465

    Article  CAS  PubMed  Google Scholar 

  41. Haraguchi R, Suzuki K, Murakami R, Sakai M, Kamikawa M, Kengaku M, Sekine K, Kawano H, Kato S, Ueno N, Yamada G (2000) Molecular analysis of external genitalia formation: the role of fibroblast growth factor (Fgf) genes during genital tubercle formation. Development 127:2471–2479

    CAS  PubMed  Google Scholar 

  42. Vogel A, Rodriguez C, Izpisúa-Belmonte JC (1996) Involvement of FGF-8 in initiation, outgrowth and patterning of the vertebrate limb. Development 122:1737–1750

    CAS  PubMed  Google Scholar 

  43. Catala M (1997) Embryogenesis. Why do we need a new explanation for the emergence of spina bifida with lipoma? Childs Nerv Syst 13:336–340

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to M Catala.

Ethics declarations

Conflict of interest

The authors report no conflict of interest in relation to this publication.

Additional information

An erratum to this article is available at https://doi.org/10.1007/s00381-017-3546-3.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kelani, A., Moumouni, H., Issa, A. et al. Notomelia and related neural tube defects in a baby born in Niger: case report and literature review. Childs Nerv Syst 33, 529–534 (2017). https://doi.org/10.1007/s00381-017-3337-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-017-3337-x

Keywords

Navigation