caudal regression syndrome ( crs ) is a rare disorder of distal spinal segments affecting the development of the spinal cord , with attendant sequelae . the exact etiology is elusive , though maternal diabetes , genetic factors , and hypoperfusion might play roles . we report late presentation of crs in a 9 year old with scoliotic deformity with an asymptomatic cervical syrinx , in absence of any systemic abnormality . a 9-year - old girl was referred in view of a lateral deformity of dorso lumbar spine to explore the possibility of an underlying skeletal dysplasia . there was no history of trauma , associated weakness of any part of body , bowel and bladder involvement or protruding mass over the spine . child was born of third degree consanguious mating at full term by normal vaginal delivery at home . according to mother she was of normal intelligence with intelligence quotient ( iq ) of 105 on developmental assessment scales for indian infants ( dasii ) score . clinical examination revealed short stature with short trunk , the height being less than 3 centile with upper to lower segment ratio 0.9 . examination revealed multiple hypo pigmented patches over the left ear lobule , left angle of mouth , and mid dorsum of right leg . additional finding was evidence of dysgenesis at lumbo sacral region with abnormal orientation of sacrum [ figure 1 ] . magnetic resonance imaging ( mri ) spine revealed butterfly vertebrae at d10 level , the first three sacral segments were hypoplastic , distal sacrum and coccyx were absent . a syrinx was present in cervico - thoracic region opposite c5-t1 vertebrae [ figure 2 ] . x - ray showing lumbosacral dysgenesis with abnormal orientation of sacrum saggital neuroimaging shows rudimentary disc at l1-l2 , l3-l4 , visualization of only s1 and s2 segments and non - visualization of distal sacral segments and coccyx crs is a rare congenital malformation characterized by varying degrees of developmental failure first described by duhmel in 1964 to explain the spectrum of sacrococcygeal malformations . the developmental defects include the lower extremities , the lumbar spine , the coccygeal and thoracic vertebrae , and corresponding segments of spinal cord . a male to female ratio of 2.7:1 has been reported . however , upto 22% cases of crs are associated with diabetes mellitus in the mother , diabetic women being 200 times to 400 times more likely to have a child with crs . group 1 has blunt spinal cord termination above l1 , and is the most severely affected . group 2 has less severe dysgenesis with low - lying tapered spinal cord and tethered cord , which may be caused by tight filum , lipoma , etc . , thus , the best diagnostic clue for crs is dysgenetic lumbosacral vertebrae and abnormal distal spinal cord . the latter may explain or at least aggravate the scoliosis that was the only clinical sign in this child . the sacral dysgenesis below s2 suggests this is a group 2 case , therefore an associated tethering mechanism should be suspected . alternatively , probably the scoliosis may be explained by vertebral anomalies at d10 , l1 - 2 and l3 - 4 instead of a tethering mechanism , it is unlikely that a child with spinal cord tethering associated with a crs would merely present with a scoliosis . on the other hand , it is even more unlikely to presume there would be a scoliosis without an associated tethering mechanism , unless the scoliosis is related to the malaligned dysgenetic vertebra as seen in our case . the exact etiology of crs at embryonic level is thought to result from defect in induction of caudal elements in the embryo before the 4 week of gestation . the insult occurs at midposterior axis mesoderm , causing the absence of the development of the mesoblastic caudal bud . the proximity and interdependence of developing caudal neurons , spinal , hindgut and mesonephric elements involved in closure of the neural tube result , in the constellation of neural , distal vertebral , anorectal , renal , and genital abnormalities . the attenuation of bone morphogenetic protein signaling at the posterior primitive streak of embryos leads to the caudal dysmorphogenesis including the cloaca and fusion of both hind limbs . hedgehog - responding cells derived from peri - cloacal mesenchyme contribute to the urogenital / reproductive organs . these findings indicate the existence of developmental programs for the coordinated organogenesis of urogenital / reproductive tissues based on growth factor function and crosstalk . interestingly , structures that are developmentally separate from these caudal elements such as the brain , proximal spine and spinal cord , are generally spared by crs . the consequences of the disruption after the maturation of spinal cord 's caudal portion ensue after the 4 week of gestation are different . this results in motor deficits and neurologic impairment , varying from incontinence of urine and feces to complete neurologic loss . understandably , most children affected by crs- except the very mild cases - would have some problem with genito - urinary and/or anorectal anatomy and function while our case was surprisingly asymptomatic till 7 years of age . short trunk , late onset scoliosis and absence of anomaly of any other system are the unusual manifestations of our case . the presence of an asymptomatic cervical syrinx in association with crs in our case is also intriguing . the overall radiological incidence of syringomyelia in patients with distal spinal abnormalities has varied from 19% to 22.5% in asymptomatic group to 48.5% in symptomatic group . if one were to consider the most accepted theories concerning the pathogenesis of syringomyelia in children with crs , chiari ii malformation , hydrocephalus and tethered cord favour the formation of a cavitating lesion of the spinal cord . in fact , a sizeable spina bifida population , screened with cranial and spinal ultrasound in infancy , showed the absence of syringomyelia . the syrinx may start after the 1 year of life , and remain asymptomatic for a variable amount of time . in our child it was interesting to note the presence of segmental vitiligo in our patient with crs , which might be a chance assoction . neurosurgical consultation taken advocated stringent follow - up , but decided against prophylactic untethering in absence of neurological symptoms . given the fact that genetic and environmental causes may produce a very similar phenotype , a sharp division between syndrome and  association  is nearly impossible and makes counselling for recurrence risk challenging . the term caudal regression  is probably incorrect since more than caudal structures are involved and nothing regressed that was previously present .
we report late presentation of caudal regression syndrome in a 9 year old presenting with a scoliotic deformity . 
 she in addition had an asymptomatic cervical syrinx and vitiligo . 
 we discuss the reasons for this unusual constellation of symptomatology present in our case .