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A case of caudal regression syndrome: walking or sitting?

Bicakci I, Turgut ST, Turgut B, Icagasioglu A, Egilmez Z, Yumusakhuylu Y - Pan Afr Med J (2014)

Bottom Line: Her hips were flexed and abducted, but did not have contractures.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.

View Article: PubMed Central - PubMed

Affiliation: Istanbul Medeniyet University Goztepe Training and Research Hospital, Physical Medicine and Rehabilitation Department, Istanbul, Turkey.

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.

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Spinal cord was observed to be terminated at T6 vertebral corpus level,lower than T10 vertebra level, thoracic and lumbar vertebrae and sacrum couldn't be observed according to lumbar MRI
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Figure 0003: Spinal cord was observed to be terminated at T6 vertebral corpus level,lower than T10 vertebra level, thoracic and lumbar vertebrae and sacrum couldn't be observed according to lumbar MRI

Mentions: 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. It was understood during the antenatal follow-up that the diagnosis has been made during 28th-gestational week and caesarean delivery has been performed at 34th-gestational week. There were no history of drug use, radiation exposure and serious disease for the mother, for whom the blood glucose has not been regulated during pregnancy. It was ascertained that there were no similar congenital deformities in other family members including the healthy siblings of patient. In locomotor system examination, 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. Equinovarus deformity has been observed in both feet. Hypoplasia of the labia majora has been determined in genital area. No deformities were detected in upper extremities, but she had frog abdomen due to weakness of the abdominal muscles. Other system examinations were normal (Figure 1, Figure 2). Total sacral agenesis and partial lumbar vertebrae agenesis were observed in voiding cystourethrography performed due to repeated urinary tract infections and spinal cord was observed to be terminated at T6 vertebral corpus level according to lumbar MRI (Figure 3, Figure 4, Figure 5). Vertebrae were observed to the T10 vertebra level and lower thoracic and lumbar vertebrae and sacrum couldn't be observed. Tethered cord and other anomalies of vertebrae such as hemivertebrae were not detected in patient. In the urinary ultrasonography, horseshoe kidney with the fusion abnormality of both kidneys at lower pole and bilateral grade 2 hydronephrosis were observed. In the urodynamic evaluation, detrusor overactivity and grade 2 vesicoureteral reflux (VUR) were determined consistent with the neurogenic bladder. It was understood that the patient has been administered with clean intermittent catheterization with the urologic follow-up. Cervical MRI and transfontanelle USG results of the patient were normal and result of cytogenetic analysis was 46,XX normal female karyotype. Deformities of lower extremities were considered for surgery by consulting to orthopaedics department. However, the surgery was not found to be appropriate as the flexion contractures in the knees considered to help the sitting stability of the patient having no ambulation potential due to spinal-pelvic instability. Family 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.


A case of caudal regression syndrome: walking or sitting?

Bicakci I, Turgut ST, Turgut B, Icagasioglu A, Egilmez Z, Yumusakhuylu Y - Pan Afr Med J (2014)

Spinal cord was observed to be terminated at T6 vertebral corpus level,lower than T10 vertebra level, thoracic and lumbar vertebrae and sacrum couldn't be observed according to lumbar MRI
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4231316&req=5

Figure 0003: Spinal cord was observed to be terminated at T6 vertebral corpus level,lower than T10 vertebra level, thoracic and lumbar vertebrae and sacrum couldn't be observed according to lumbar MRI
Mentions: 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. It was understood during the antenatal follow-up that the diagnosis has been made during 28th-gestational week and caesarean delivery has been performed at 34th-gestational week. There were no history of drug use, radiation exposure and serious disease for the mother, for whom the blood glucose has not been regulated during pregnancy. It was ascertained that there were no similar congenital deformities in other family members including the healthy siblings of patient. In locomotor system examination, 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. Equinovarus deformity has been observed in both feet. Hypoplasia of the labia majora has been determined in genital area. No deformities were detected in upper extremities, but she had frog abdomen due to weakness of the abdominal muscles. Other system examinations were normal (Figure 1, Figure 2). Total sacral agenesis and partial lumbar vertebrae agenesis were observed in voiding cystourethrography performed due to repeated urinary tract infections and spinal cord was observed to be terminated at T6 vertebral corpus level according to lumbar MRI (Figure 3, Figure 4, Figure 5). Vertebrae were observed to the T10 vertebra level and lower thoracic and lumbar vertebrae and sacrum couldn't be observed. Tethered cord and other anomalies of vertebrae such as hemivertebrae were not detected in patient. In the urinary ultrasonography, horseshoe kidney with the fusion abnormality of both kidneys at lower pole and bilateral grade 2 hydronephrosis were observed. In the urodynamic evaluation, detrusor overactivity and grade 2 vesicoureteral reflux (VUR) were determined consistent with the neurogenic bladder. It was understood that the patient has been administered with clean intermittent catheterization with the urologic follow-up. Cervical MRI and transfontanelle USG results of the patient were normal and result of cytogenetic analysis was 46,XX normal female karyotype. Deformities of lower extremities were considered for surgery by consulting to orthopaedics department. However, the surgery was not found to be appropriate as the flexion contractures in the knees considered to help the sitting stability of the patient having no ambulation potential due to spinal-pelvic instability. Family 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.

Bottom Line: Her hips were flexed and abducted, but did not have contractures.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.

View Article: PubMed Central - PubMed

Affiliation: Istanbul Medeniyet University Goztepe Training and Research Hospital, Physical Medicine and Rehabilitation Department, Istanbul, Turkey.

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.

Show MeSH
Related in: MedlinePlus