A case of caudal regression syndrome: walking or sitting?
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.
Istanbul Medeniyet University Goztepe Training and Research Hospital, Physical Medicine and Rehabilitation Department, Istanbul, Turkey.
Irem
I
Bicakci
Karaman State Hospital, Physical Medicine and Rehabilitation Clinic, Karaman, Turkey.
Selin Turan
ST
Turgut
Karaman State Hospital, Radiology Clinic, Karaman, Turkey.
Bekir
B
Turgut
Istanbul Medeniyet University Goztepe Training and Research Hospital, Physical Medicine and Rehabilitation Department, Istanbul, Turkey.
Afitap
A
Icagasioglu
Istanbul Medeniyet University Goztepe Training and Research Hospital, Physical Medicine and Rehabilitation Department, Istanbul, Turkey.
Zeliha
Z
Egilmez
Istanbul Medeniyet University Goztepe Training and Research Hospital, Physical Medicine and Rehabilitation Department, Istanbul, Turkey.
Yasemin
Y
Yumusakhuylu
D002675:Child, Preschool; D003286:Contracture / Q000151:congenital*; D005260:Female; D006801:Humans; D006869:Hydronephrosis / Q000209:etiology; D007668:Kidney / Q000002:abnormalities; D038061:Lower Extremity Deformities, Congenital / Q000175:diagnosis*; D009123:Muscle Hypotonia / Q000151:congenital*; D011247:Pregnancy; D011254:Pregnancy in Diabetics; D013116:Spinal Cord / Q000002:abnormalities*; D013904:Thoracic Vertebrae / Q000002:abnormalities; D001750:Urinary Bladder, Neurogenic / Q000209:etiology; D014718:Vesico-Ureteral Reflux / Q000209:etiology
caudal regression syndrome; congenital malformation; knee flexion contracture; maternal diabetes; sacral agenesis