A B Kelani1,2, H Moumouni3, A W Issa2, H Younsaa4, Hmu Fokou4, R Sani4, S Sanoussi1,2, L J Denholm5, J E Beever6, M Catala7,8,9,10. 1. Département de Chirurgie, Faculté des Sciences de la Santé (FSS), Université Abdou Moumouni (UAM), Niamey, Niger. 2. Service de Neurochirurgie, Hôpital National, Niamey, Niger. 3. Département d'Embryologie, FSS, UAM, Niamey, Niger. 4. Service de Chirurgie Générale, Hôpital National, Niamey, Niger. 5. NSW Department of Industry, Orange NSW, Australia. 6. Department of Animal Sciences, University of Illinois at Urbana-Champaign, Champaign, IL, USA. 7. Sorbonne Université, UPMC Université Paris 06, UMR7622, F-75005, Paris, France. martin.catala@upmc.fr. 8. CNRS, Institut de Biologie Paris Seine (IBPS) - Developmental Biology Laboratory, UMR7622, F-75005, Paris, France. martin.catala@upmc.fr. 9. INSERM, ERL1156, F-75005, Paris, France. martin.catala@upmc.fr. 10. Fédération de Neurologie, Groupe hospitalier Pitié-Salpêtrière-APHP, F-75013, 47-83 Bd de l'Hôpital, 75651, Paris Cedex 13, France. martin.catala@upmc.fr.
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.
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 bovineNHLRC2 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.
Authors: Robert F Murphy; Brian H Cohen; Michael S Muhlbauer; James W Eubanks; Jeffrey R Sawyer; Alice Moisan; Derek M Kelly Journal: Pediatr Surg Int Date: 2013-02-08 Impact factor: 1.827