Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis

Abstract

Sacral agenesis is a rare congenital defect which is associated with foot deformities such as congenital talipes equinovarus (CTEV) and less commonly congenital vertical talus (CVT). We report a 3-year-old Caucasian girl who was born with right CTEV and left CVT secondary to sacral agenesis. Her right foot was managed with a Ponseti casting method at 2 weeks, followed by an Achilles tenotomy at 4 months. The left foot was initially managed with a nocturnal dorsi-flexion splint. Both feet remained resistant and received open foot surgery at 10 months producing plantigrade feet with neutral hindfeet. At 19 months, she failed to achieve developmental milestones and examinations revealed abnormal lower limb reflexes. A full body MRI was performed which identified the sacral agenesis. We advocate early MRI of the spine to screen for spinal defects when presented with resistant foot deformities, especially when bilateral.

Atypical caudal regression syndrome with lumbar agenesis, hypoplastic sacrum without sacro-iliac joints in the Eastern Democratic Republic of Congo: A case report

“…It is recognised that early fetal MRI is the gold standard in detecting CRS [21,22]; but in the Low and middle income countries 'context patients do not attend prenatal visits and if attended they cannot have access to such imaging tools. That is why in some studies like ours CRS is diagnosed in the neonatal period in most cases, in the childhood and some exceptions in the adulthood.…”

“…That is why this case remains atypical because Genitourinary, anorectal, digestive, cardiac malformations and other extra spinal abnormalities have been found to be associated with CRS. Anorectal together with genitourinary malformations were the mostly frequent found, and especially anal imperforation was the common extra spinal manifestation [12], followed by lower limbs deformities [21]. Some cases of associated congenital heart defect [18], horseshoe kidney have been described too [7].…”

Caudal Regression Syndrome—A Narrative Review: An Orthopedic Point of View

“…Calcaneovalgus foot deformities are much less common [ 46 , 57 ]. In patients with partial sacral agenesis, the spectrum of foot defects may be much larger—from clubfoot and valgus foot to calcaneus and cavus foot [ 73 , 74 ]. Foot deformities may be accompanied by contractures and clawed toes.…”

“…Clubfoot deformity often resembles the foot in arthrogryposis and requires more complex treatment. In small children, we start treatment with manipulation and serial casting, according to Ponseti [ 73 , 77 ]. Ineffective conservative treatment is the indication for surgery—from soft tissue release to bone procedures (osteotomies and arthrodeses) [ 47 ].…”

Congenital talipes equinovarus: A literature review

“…Talipes equinovarus is a common symptom in many neurodegenerative disorders. For example, it is frequently seen in conjunction with neurological disorders caused by spina bifida [ 46 , 47 ]. In one study, 18 out of 44 ICTEV cases also had aberrant nerve conduction, with 8 involving a spinal anomaly [ 6 , 46 , 47 ].…”