Abstract
Caudal regression syndrome (CRS) is a congenital disorder which is seen vertebral anomalies in varying degrees from lower thoracic spineto the level of the coccyx. We present a case of CRS which is not intended operation for orthopedic deformities considering functionality. 2, 5 year-old girl referred to our clinic with complaints about walking disability, knee and foot deformities. Patient's mother with unregulated diabetes did not have a history of drug use, radiation exposure and serious illness during pregnancy. Diagnosis had been put during antenatal follow-ups. On physical examination, her lower extremities were hypoplastic and had no muscle activity. Her hips were flexed and abducted, but did not have contractures. Her knees had 75 degrees of flexion contractures with popliteal webs and feet had equinovarus deformity. Frog belly was present due to abdominal muscles weakness. Also hypoplasic labia majora has been identified. In lumbar MRI, spinal cord was terminated at 6th thoracic (T6) vertebrae and the last solid vertebrae level was at T10. Patient who has been following by urology with clean intermittent catheterization had also severe urological problems including horseshoe kidney, neurologic bladder, vesico-ureteral reflux and grade 2 hydronephrosis. Orthopedic consultation was made for her deformities. They decided that ambulation unexpected patient's knee flexion contractures were helping sitting balance. Because of this operation was not considered. Prognosis, treatment options, strength exercises for upper extremities, skin care were told to parents and patient was taken to follow. CRS is a rare congenital abnormality which is associated with orthopedic deformities, as well as urological, anorectal and cardiac malformations. Treatment requires a multidisciplinary approach. It should not be forgotten that purpose of rehabilitation is not to correct all deformities but increase the functionality of everyday life.
Highlights
Caudal regression syndrome is a rare congenital disorder accompanied by varying degrees of vertebrae abnormalities with an incidence of 1:7500 to 1:60.000 and may extend from the lower thoracic vertebrae to coccyx level [1,2]
We presented a case with caudal regression syndrome with bilateral knee flexion contractures accompanied by popliteal webbings that have not been considered for surgical intervention as they helped to sitting stability
Recent studies showed the involvement of HLXB9 gene in occurrence of some types of sacral agenesis[6]
Summary
Caudal regression syndrome is a rare congenital disorder accompanied by varying degrees of vertebrae abnormalities with an incidence of 1:7500 to 1:60.000 and may extend from the lower thoracic vertebrae to coccyx level [1,2]. We presented a case with caudal regression syndrome with bilateral knee flexion contractures accompanied by popliteal webbings that have not been considered for surgical intervention as they helped to sitting stability. A 2.5 year-old girl applied to our clinic with the complaints of abasia and deformity in knees and feet She was the third child of a diabetic mother according to her medical history and consanguineous marriage was not the case for her parents. Lower extremities of patient were hypoplasic and there were no activity in all key muscles of lower extremities including quadriceps Her hips were in flexion and abduction position when patient was in supine position but there were no contracture. Flexion contracture of 75 degree accompanied by popliteal web was observed in the knees of patient. Has been informed on prognosis and treatment options, upper extremity strengthening exercises, good skin care and positioning, and follow-up procedures have been initiated for patient
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