<%server.execute "isdev.asp"%> Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature Rai N, Thakur N, Khan NZ, Dwivedi AD - J Pediatr Neurosci
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CASE REPORT
Year : 2015  |  Volume : 10  |  Issue : 4  |  Page : 362-364
 

Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature


1 Department of Pediatrics, Hind Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
2 Department of Obstetrics and Gynaecology, Hind Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

Date of Web Publication20-Jan-2016

Correspondence Address:
Neha Thakur
Department of Pediatrics Hind Institute of Medical Sciences, Lucknow, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.174456

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   Abstract 

Spondylocostal dysostosis (SCD) is a rare anomaly of axial skeleton due to flawed embryological development. A newborn baby boy with right-sided polythelia, meningocoele, fan-like configuration of third and fourth rib, fused fifth and sixth rib and third thoracic hemivertebra was delivered to a second gravid mother by elective caesarean section. Baby was active, cried immediately after birth, had normal muscle tone and reflexes. He passed urine and meconium within 24 h of birth. Based on clinical examination and radiological picture, a diagnosis of SCD with meningocele with right-sided polythelia was made. Our case is the first SCD with polythelia and meningocele in newborn. SCD with right-sided polythelia and rib deformity with neural tube defect (NTD) may be due to a genetic defect with the culprit genes missing. Further genetic and embryological studies might find a link between right-sided rib defects, polythelia and NTD.


Keywords: Jarcho-Levin syndrome, polythelia, spondylocostal dysostosis


How to cite this article:
Rai N, Thakur N, Khan NZ, Dwivedi AD. Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature. J Pediatr Neurosci 2015;10:362-4

How to cite this URL:
Rai N, Thakur N, Khan NZ, Dwivedi AD. Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature. J Pediatr Neurosci [serial online] 2015 [cited 2019 Oct 19];10:362-4. Available from: http://www.pediatricneurosciences.com/text.asp?2015/10/4/362/174456



   Introduction Top


Spondylocostal dysostosis (SCD) is a rare disorder due to genetic mutation resulting in abnormality of axial skeleton and associated rib deformities. There are only two case reports in literature with neural tube defect (NTD) and supernummary nipple.[1],[2] We present a newborn, diagnosed with SCD, polythelia and meningocoele. Association of NTDs has been reported previously with SCD but this case has associated polythelia which has not been reported in newborn.


   Case Report Top


Term baby boy, weighing 3 kg was delivered by emergency cesarean to a second gravid mother - section was done for nonprogression of labor. Mother had history of spontaneous abortion at 3 months of gestational age. Her viral markers including Toxoplasmosis, Rubella, Cytomegalovirus and Herpes profile was negative. Baby cried immediately after birth, but had malformations in the form of right-sided polythelia, [Figure 1] and spina bifida occulta. An extra nipple was located caudal to normal nipple and was more prominent. On palpation, bony defects could be appreciated just below the extra nipple giving rise to a suspicion of defective rib cage. There were no other anomalies like dysmorphic facies, hernias and imperforate anus. Rest of the systemic examination was normal.
Figure 1: Right-sided polythelia

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In view of congenital malformations, chest X-ray, X-ray spine, ultrasonography (USG) cranium, USG abdomen, spine was done. X-ray spine anteroposterior and lateral view suggested fan-like configuration of third and fourth rib fused sixth to sixth rib, third thoracic hemivertebra [Figure 2]. Chromosomal analysis of the child was normal.
Figure 2: Infantogram (anteroposterior and lateral view showing fan like configuration of third and fourth rib, fused fifth to sixth rib, third thoracic hemivertebra)

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   Discussion Top


SCD is a rare anomaly caused due to faulty embryological development of the axial skeleton during initial stages of gestation. Dominant rib anomaly differentiates it from spondylothoracic dysostosis (STD). Patchy spinal involvement differentiates it from the Jarcho–Levin syndrome (JLS). Autosomal dominant and recessive transmissions are known. SCD association with spina bifida occulta has been shown previously.[3] There are studies which suggest an etiological link between NTD and segmental costovertebral defect.[4] Patients with SCD have typical rib anomalies and vertebral abnormalities such as hemivertebrae and butterfly vertebrae.[5] SCD, STD and JLS all have vertebral involvement, with increasing severity. JLS is the most severe form. Literature review has shown very few cases of SCD with NTD and only two with associated supernummary nipple. Duru et al. reported a 2-year-old girl with polythelia and rib deformity on right side with NTD and bilateral foot deformities, chromosomal analysis was not done in that case.[3] Yilmaz et al. presented 2-year-old female child with thoracolumbar scoliosis, skin lesion, hypertrichosis, double nipples on the right side and skin lesion on the back suggestive of split cord. Investigation further revealed that first four ribs were absent on right side. There was an irregular appearance at the fifth with sixth ribs, chromosomal analysis was normal.[2] Dias and Walker explained about split cord malformations and other related complex dysraphic malformations.[6] According to them the embryogenesis of split cord malformations and related malformations occur due to failure of midline axial integration during gastrulation. At least four gene mutations are known to cause SCD. Mutations in the DLL3 gene cause SCD type 1: mutations in the mesoderm posterior protein2 gene cause SCD type 2; mutations in the LFNG gene cause SCD type 3; and mutations in the HES7 gene cause SCD type 4. The SCD genes play a role in the Notch signaling pathway and disruption of this pathway results in malformation and fusion of the bones of the spine and ribs as seen in SCD. Researchers suggest that additional genes in the Notch signaling pathway might also be involved.[7]


   Conclusion Top


It is vital to comprehensively examine the NTD patient and to rule out associated abnormalities. Early diagnosis of SCD in neonatal period as in this case will help us to take aggressive measures in treating lung infections as defective rib cage will hamper the normal growth of lungs. We must take precautions to prevent direct trauma to heart or lungs in view of deficient rib cage. Our case is the first SCD with polythelia and meningocele in newborn. SCD with right-sided polythelia and rib deformity with NTD may be due to a genetic defect with the culprit genes missing. Further genetic and embryological studies might find a link between right-sided rib defects, polythelia and NTD.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Yilmaz MB, Kaymak A, Kurt G, Percin FE, Baykaner K. Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: A case report. Turk Neurosurg 2013;23:256-9  Back to cited text no. 1
    
2.
Sparrow DB, Chapman G, Smith AJ, Mattar MZ, Major JA, O'Reilly VC, et al. A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell 2012;149:295-306.  Back to cited text no. 2
    
3.
Giacoia GP, Say B. Spondylocostal dysplasia and neural tube defects. J Med Genet 1991;28:51-3.  Back to cited text no. 3
    
4.
McCall CP, Hudgins L, Cloutier M, Greenstein RM, Cassidy SB. Jarcho-Levin syndrome: Unusual survival in a classical case. Am J Med Genet 1994;49:328-32.  Back to cited text no. 4
    
5.
Duru S, Ceylan S, Güvenç BH. Segmental costovertebral malformations: Association with neural tube defects. Report of 3 cases and review of the literature. Pediatr Neurosurg 1999;30:272-7.  Back to cited text no. 5
    
6.
Dias MS, Walker ML. The embryogenesis of complex dysraphic malformations: A disorder of gastrulation? Pediatr Neurosurg 1992;18:229-53.  Back to cited text no. 6
    
7.
Poor MA, Alberti O Jr, Griscom NT, Driscoll SG, Holmes LB. Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies. J Pediatr 1983;103:270-2.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2]



 

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