<%server.execute "isdev.asp"%> Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature Anjankar SD, Subodh R - J Pediatr Neurosci
home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 529      Small font sizeDefault font sizeIncrease font size Print this page Email this page


 
  Table of Contents    
CASE REPORT
Year : 2014  |  Volume : 9  |  Issue : 3  |  Page : 249-252
 

Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature


Department of Neurosurgery, Kamineni Hospitals Ltd., Hyderabad, Andhra Pradesh, India

Date of Web Publication23-Dec-2014

Correspondence Address:
Shailendra D Anjankar
Department of Neurosurgery, Kamineni Hospital Ltd., L. B. Nagar, Hyderabad - 500 068, Andhra Pradesh
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.147580

Rights and Permissions

 

   Abstract 

Spondylocostal dysostosis (SCDO) is rare anomaly caused due to flawed embryological development of the axial skeleton during preliminary stages of gravidity, characterized by malformed vertebral column and ribs, abridged thorax and kyphoscoliosis. This entity was also reported as a "Jarcho-Levin syndrome" eponym by erstwhile authors, before the introduction of genetic based classification. A literature review showed only three cases of this clinical entity with lipomyelomeningocele. We report the fourth case report of an infant with SCDO with lipomyelomeningocele. His chest X-ray displayed absent left side 6 th -8 th ribs with peculiar fan like configuration, making the heart vulnerable to any direct injury. Special care has to be taken for such patients who need surgical procedure in the prone position.


Keywords: Jarcho-Levin syndrome, lipomyelomeningocele, spondylocostal dysostosis


How to cite this article:
Anjankar SD, Subodh R. Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. J Pediatr Neurosci 2014;9:249-52

How to cite this URL:
Anjankar SD, Subodh R. Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. J Pediatr Neurosci [serial online] 2014 [cited 2019 Jul 19];9:249-52. Available from: http://www.pediatricneurosciences.com/text.asp?2014/9/3/249/147580



   Introduction Top


Spondylocostal dysostosis (SCDO) is a rare, heritable axial skeleton growth disorder characterized by malformed vertebral column and ribs, abridged thorax, and kyphoscoliosis. Very few such cases have been reported so far in the literature. We present here an infant with SCDO with neural tube defect who underwent lipomyelomeningocele excision and detethering of the cord.


   Case Report Top


An 8-month-old male child was admitted with a history of soft, nonprogressive swelling in the lower back since birth. This child was a product of nonconsanguinous marriage, born full term by cesarean section. The fetus was diagnosed to have neural tube defect on antenatal scan, but the pregnancy was deemed precious and hence continued. He was the second child born after 10 years of marriage. The mother had a history of two previous abortions due to malformed fetus. The first female child was 3 years old and did not have any congenital abnormality. Both the father and mother did not have any other comorbid conditions.

On examination, the child was conscious, alert, and active. Neurological examination revealed right foot wasting and weakness with equinovarus deformity. Examination of the thorax revealed a shortened thorax with deficient rib cage on the left side. Second, a soft, mid-line swelling was present in the lumbosacral region, which was non-compressible and nontransilluminant with no overlying skin defect or leak. Physical examination did not reveal any associated stigmata such as short neck, abnormal facial feature, thoracic asymmetry, polythelia, inguinal swelling, undescended testis or anal atresia. Chest X-ray displayed absent left sixth to eighth ribs and fan like configuration of ribs, seventh and ninth butterfly shaped thoracic vertebrae and mild scoliosis of the thoracolumbar spine [Figure 1]. Magnetic resonance imaging revealed lumbosacral lipomyelomeningocele with low lying cord at L4-L5 level with tethered cord [Figure 2]. He underwent excision and repair of lipomyelomeningocele and detethering of cord under general anesthesia in the prone position with appropriate padding to avoid direct pressure on the heart. Both the intraoperative and postoperative period was uneventful without any further deterioration in neurological function.
Figure 1: Chest X-ray: Absent left 6th to 8th ribs with its fan like configuration, 7th and 9th butterfly shaped thoracic vertebrae and mild scoliosis of thoracolumbar spine

Click here to view
Figure 2: Magnetic resonance imaging spine: (a) T1-weighted Sagittal image and (b) T2-weighted Sagittal image displaying lumbosacral lipomyelomeningocele with low lying cord at L4-L5 level with tethered cord and deformed 7th and 9th thoracic vertebrae (c) T2-weighted axial image at L4-L5 spinal level showing lipomyelomeningocele communicating through vertebral defect (d) short inversion time inversion recovery coronal image demonstrating deficient and malformed rib cage on left side

Click here to view



   Discussion Top


Spondylocostal dysostosis is a rare anomaly caused due to defective embryological development of the axial skeleton during early stages of gestation. In 1938, Saul Jarcho and Paul Levin at John Hopkins University had first described a pattern of vertebral and costal anomalies distinctly different from the well-known  Klippel-Feil syndrome More Details. [1] Since then Jarcho-Levin syndrome (JLS) eponym has been used for varied malady like - hereditary multiple hemivertebrae, spondylocostal dysplasia, spondylothoracic dysplasia, costovertebral anomalies and costovertebral dysplasia. This "JLS" eponym was used by many authors for "SCDO" before the introduction of genetic based classification. [2],[3],[4],[5],[6]

Five subtypes of SCDO are recognized, based on the underlying gene involved. JLS is recently classified as SCDO1 (SCDO type 1). [7] SCDO1 and SCDO4 have been found to be associated with neural tube defects like spina bifida, meningocele, meningomyelocoele, lipomyelomeningocele, and diastematomyelia. SCDO1 is caused by an abnormality in the DLL3 gene located on chromosome 19 at 19q13. SCDO4 is caused by an abnormality in the HES7 gene located on chromosome 17 at 17p13. [7]

According to Dias and Walker, split cord malformations and related malformations occur as a result of embryological failure of the mid-line axial integration during gastrulation. [8] The common association of segmental costovertebral malformations with neural tube defects could be related to an early gastrulation genomic defect or one after gastrulation when there are two independent somatic columns. The latter sometimes progresses and then involves primary and secondary neurulation. Lipomyelomeningocele results due to premature disjunction during primary neurulation. [9] Due to ingression of adjacent mesenchymal cells (sclerotome) into the central canal of developing neural tube, the somatic tissues are laterally displaced. This would form an abnormally widened spinal canal with numerous associated vertebral segmentation anomalies, including sagittal cleft (butterfly) vertebrae or hemi vertebrae. And thus due to deficient sclerotome for embryogenesis, the ribs are malformed or absent as also seen in the present case.

The patients with SCDO are prone to respiratory insufficiency and repeated respiratory infections (pneumonia) because the vertebrae are fused and the ribs fail to develop properly and the chest cavity is too small to accommodate the growing lungs. Other abnormalities associated with this syndrome includes  Chiari malformation More Details, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis. [10]

Till date, about 17 cases of SCDO with neural tube defects have been described in the literature as reckoned in the table [2],[3],[4],[5],[6],[9],[11],[12],[13],[14],[15],[16],[17] [Table 1]. Amid these only three cases of SCDO reported had lipomyelomeningocele, which encompasses one by Duru et al. [9] and two cases by Nadkarni et al. [11] Present case is the fourth case report of lipomyelomeningocele with SCDO. He presented with rib defect on the left side making the heart vulnerable to any direct injury. In such patients, care has to be taken during surgery in the prone position to avoid direct pressure on the heart and also parents need to be counseled about the same. Our patient had a smooth postoperative recovery. Sometimes these patients because of the shortened thorax and its asymmetry, weaning may be difficult, and this may result in respiratory complications and increase in ventilator days. These patients should be thoroughly investigated for other associated anomalies before taking up for surgery. As these patients may be associated with renal abnormalities, perioperative hemodynamics and urine output monitoring are mandatory to prevent any insult to the kidneys.
Table 1: Case reports of SCDO with neural tube defects

Click here to view



   Conclusion Top


It is important to thoroughly investigate the neural tube defect patient and to rule out the associated abnormalities. Management of such patients should aim at aggressive neonatal care and prevention of respiratory infections. Also, precautions must be taken to prevent direct trauma to heart or lungs in view of deficient rib cage. Additional genetic and embryological studies are necessary to provide evidence of an etiological link between SCDO and neural tube defect.


   Acknowledgments Top


Kamineni Hospitals Ltd., LB Nagar, Hyderabad, Andhra Pradesh, India.

 
   References Top

1.
Jarcho S, Levin P. Hereditary malformation of the vertebral bodies. Bull Johns Hopkins Hosp 1938;62:216-26.  Back to cited text no. 1
    
2.
Eller JL, Morton JM. Bizarre deformities in offspring of user of lysergic acid diethylamide. N Engl J Med 1970;283:395-7.  Back to cited text no. 2
    
3.
Reyes MC, Morales A, Harris V, Barreta TM, Goldbarg H. Neural defects in Jarcho-Levin syndrome. J Child Neurol 1989;4:51-4.  Back to cited text no. 3
    
4.
Giacoia GP, Say B. Spondylocostal dysplasia and neural tube defects. J Med Genet 1991;28:51-3.  Back to cited text no. 4
    
5.
Etus V, Ceylan S, Ceylan S. Association of spondylocostal dysostosis and type I split cord malformation. Neurol Sci 2003;24:134-7.  Back to cited text no. 5
    
6.
Kansal R, Mahore A, Kukreja S. Jarcho-Levin syndrome with diastematomyelia: A case report and review of literature. J Pediatr Neurosci 2011;6:141-3.  Back to cited text no. 6
[PUBMED]  Medknow Journal  
7.
Turnpenny PD, Young E, (International Consortium for Vertebral Anomalies and Scoliosis) ICVAS. Spondylocostal dysostosis, autosomal recessive. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK8828/. [Last updated on 2013 Jan 17].  Back to cited text no. 7
    
8.
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. 8
    
9.
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. 9
    
10.
Kulkarni ML, Navaz SR, Vani HN, Manjunath KS, Matani D. Jarcho-Levin syndrome. Indian J Pediatr 2006;73:245-7.  Back to cited text no. 10
    
11.
Nadkarni TD, Menon RK, Desai KI, Goel A. Segmental costovertebral malformation associated with lipomyelomeningocoele. J Clin Neurosci 2005;12:599-601.  Back to cited text no. 11
    
12.
Sparrow DB, Guillén-Navarro E, Fatkin D, Dunwoodie SL. Mutation of hairy-and-enhancer-of-split-7 in humans causes spondylocostal dysostosis. Hum Mol Genet 2008;17:3761-6.  Back to cited text no. 12
    
13.
Rosa RF, Zen PR, Rosa RC, Graziadio C, Paskulin GA. Spondylocostal dysostosis associated with neural tube defects. Rev Paul Pediatr 2009;27:335-9.  Back to cited text no. 13
    
14.
Yi S, Yoon DH, Shin HC, Kim KN, Lee SW. A thoracic myelomeningocele in a patient with spondylocostal dysostosis. Case report. J Neurosurg 2006;104:37-40.  Back to cited text no. 14
    
15.
Vázquez-López ME, López-Conde MI, Somoza-Rubio C, Pérez-Pacín R, Morales-Redondo R, González-Gay MA. Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review. Joint Bone Spine 2005;72:275-7.  Back to cited text no. 15
    
16.
Cetinkaya M, Ozkan H, Köksal N, Yazici Z, Yalçinkaya U. Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects. Clin Dysmorphol 2008;17:151-4.  Back to cited text no. 16
    
17.
Dizostozis ES. 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. 17
    


    Figures

  [Figure 1], [Figure 2]
 
 
    Tables

  [Table 1]



 

Top
Print this article  Email this article
 
 
  Search
 
  
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Article in PDF (550 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


    Abstract
   Introduction
   Case Report
   Discussion
   Conclusion
   Acknowledgments
    References
    Article Figures
    Article Tables

 Article Access Statistics
    Viewed1441    
    Printed25    
    Emailed0    
    PDF Downloaded83    
    Comments [Add]    

Recommend this journal