Journal of Pediatric Neurosciences
LETTER TO THE EDITOR
Year
: 2013  |  Volume : 8  |  Issue : 3  |  Page : 256--257

Sacral agenesis with club shaped conus


Sujit Abajirao Jagtap1, Harsha J Kambale2, MD Nair1,  
1 Department of Neurology, Sree Chitra Tirunal Institute of Medical Sciences and Technology, Thiruvananthapuram, Kerala, India
2 Department of Imaging Sciences and Intervention Radiology, Sree Chitra Tirunal Institute of Medical Sciences and Technology, Thiruvananthapuram, Kerala, India

Correspondence Address:
Sujit Abajirao Jagtap
Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram - 695 011, Kerala
India




How to cite this article:
Jagtap SA, Kambale HJ, Nair M D. Sacral agenesis with club shaped conus.J Pediatr Neurosci 2013;8:256-257


How to cite this URL:
Jagtap SA, Kambale HJ, Nair M D. Sacral agenesis with club shaped conus. J Pediatr Neurosci [serial online] 2013 [cited 2019 Sep 19 ];8:256-257
Available from: http://www.pediatricneurosciences.com/text.asp?2013/8/3/256/123705


Full Text

Dear Sir,

A 4-month-old boy presented with club feet and flattened buttock. The antenatal period was normal without a history of exposure to radiation, toxins, drugs or intrauterine infections or gestational diabetes. At birth parents noticed bilateral club feet with flattened buttocks. His motor, language and social development were normal. He had equinovarus deformity of left foot with reduced gluteal mass and abnormal skin folds over the buttocks [Figure 1]a, without any evidence of spina bifida, dimple or dermal sinus or other bony deformity. His other systemic examination as well as 2D echo and ultrasound abdomen was normal. Radiograph pelvis showed total absence of sacral bones with iliac wings fused to lateral borders of lower most vertebras with normal transverse pelvic diameter. Magnetic resonance imaging of spine revealed sacral agenesis (SA) with abruptly ending club shaped conus at the level of T11 [Figure 1]b-d.{Figure 1}

SA is a rare congenital disorder which involves absence of only coccyx to sacral, lumbar and even thoracic vertebrae with incidence of 0.01-0.05/1000 live births. [1],[2] The exact etiology is not known but is reported in association with maternal diabetes, genetic factors and vascular hypoperfusion. Nearly 12-22% of SA cases are associated with maternal diabetes mellitus. [3] The clinical presentation varies from flattened buttocks with abnormal skin fold, shortening of the intergluteal cleft, small gluteal masses and club feet to severe form with genitourinary, respiratory and nervous system abnormalities. The position of conus defines two distinct groups in patients with SA. In group 1, conus terminate abruptly at T11 or T12 vertebral body level with club/wedge shape while in group 2 conus ends below L2 with tethered cord. [4] In our case, S1 vertebral body is absent suggesting high bony aplasia.

References

1Alexander E, Nashold BS. Agenesis of the sacrococcygeal region. J Neurosurg 1956; 13:507-13.
2Caird MS, Hall JM, Bloom DA, Park JM, Farley FA. Outcome study of children, adolescents, and adults with sacral agenesis. J Pediatr Orthop 2007;27:682-5.
3Stroustrup Smith A, Grable I, Levine D. Case 66: Caudal regression syndrome in the fetus of a diabetic mother. Radiology 2004;230:229-33.
4Renshaw TS. Sacral agenesis. J Bone Joint Surg Am 1978;60:373-83.