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.
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Change history
26 July 2017
An erratum to this article has been published.
References
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
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
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
Chadha R, Bagga D, Malhotra CJ, Dhar A, Kumar A (1993) Accessory limb attached to the back. J Pediatr Surg 28:1615–1617
Chadha R, Lal P, Singh D, Sharma A, Choudhury SR (2006) Lumbosacral parasitic rachipagus twin. J Pediatr Surg 41:E45–E48
Gamanagatti S, Garg R, Srivastava DN, Gupta A, Aggarwal S (2003) Spinal dysraphism with accessory thigh. Pediatr Radiol 33:809–810
Garg K, Kumar R (2013) Complex spinal dysraphism with multiple anomalies. Pediatr Neurosurg 49:126–128
Khan RA, Wahab S, Ghani I (2009) Tripedus: a form of rachipagus twinning. Cong Anomal (Kyoto) 49:280–281
Krishna A, Chandna S, Mishra NK, Gupta AK, Upadhyaya P (1989) Accessory limb associated with spina bifida. J Pediatr Surg 24:604–606
Krishna A, Lal P (1999) Accessory limbs associated with spina bifida—a second look. Pediatr Surg Int 15:248–250
Ratan SK, Rattan KN, Magu S, Rohilla S, Purwar P, Mathur SK (2004) Thoracolumbar rachipagus parasite. Pediatr Surg Int 20:298–300
Sharma L, Singh RB, Bhargava JS, Sharma VK (1991) Accessory limbs with spinal lesions. Pediatr Surg Int 6:227–229
Tahilyani NDA, Singh KM (1976) Occipital teratoma bearing digits and nails. Br J Surg 63:493
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
Bayri Y, Tanrikulu B, Eksi MS, Dagçmar A (2014) Accessory lower limb associated with spina bifida: case report. Childs Nerv Syst 30:2123–2126
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
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
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
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
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
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
Tucker EA (1895) Fetal abnormality. Am J Obst 31:112
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
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
Navaei AA, Habibi Z, Moradi E, Nejat F (2015) Parasitic rachipagus twins; report of two cases. Childs Nerv Syst 31:1001–1003
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
Spencer R (1995) Rachipagus conjoined twins: they really do occur! Teratology 52:346–356
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
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
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
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
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
Fulmer BB, Wilkins RH, Oakes WJ, Filston HC (1997) Midline dorsal appendages. Pediatr Neurosurg 27:242–245
Humphreys RP, Manwaring KH, Carroll NC (1991) Accessory arm—dysraphism or disparity? J Neurosurg 74:297–300
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
Parks C, Mugamba J (2014) Accessory limb with myelomeningocele: a rare case challenging previously held beliefs. Childs Nerv Syst 30:2127–2128
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
Ringo Y, Drake D, Sillo T, Lakhoo K (2012) Parasitic twin within spina bifida. African J Paediatr Surg 9:240–242
Nanni L, Perrelli L, Velardi F (1994) Accessory lower limb in a newborn with multiple malformations. Eur J Pediatr Surg 4:51–53
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
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
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
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
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An erratum to this article is available at https://doi.org/10.1007/s00381-017-3546-3.
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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
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DOI: https://doi.org/10.1007/s00381-017-3337-x