A Case Report of Caudal Regression Syndrome Associated with an Intraspinal Arachnoid Cyst

Abstract

We report here a rare case of caudal regression syndrome associated with an intraspinal arachnoid cyst. The patient was a 6-month-old baby girl with multicomplex congenital abnormalities: sacrococcygeal dysgenesis and ventral curvature, large terminal cyst (myelocystocele), spinal arachnoid cyst, cerebellar hypertrophy (suspected), high imperforate anus, partial dysgenesis of the large intestine, omphalocele, atresia of the vagina, bilateral incomplete ureter duplication, incomplete pseudoduplicated bladder and bilateral talipes equinovarus. We performed plastic repair of the myelocystocele and perineal lesion for caudal regression syndrome and partial removal of the cyst wall for the intraspinal arachnoid cyst. She has been well for 3 years postoperatively, and her mental development is normal.

A case of caudal regression syndrome: walking or sitting?

“…While there were no anorectal and cardiac malformation in this case, horseshoe kidney formation and external genitalia hypoplasia were observed and grade 2 hydronephrosis and VUR due to neurogenic bladder were detected. These patients may also have multiple congenital neurologic and orthopaedic abnormalities [ 4 ]. Also in this case, there were orthopaedic deformities such as popliteal web and flexion contracture in both knees and equinovarus deformity in both feet.…”

“…Possible risk factors include uncontrolled maternal diabetes, genetic susceptibility and vascular hypoperfusion, however the exact pathogenesis is unclear [ 3 ]. Many additional abnormalities may be observed including urologic abnormalities such as renal ectopia and agenesis, gastrointestinal system abnormalities such as imperforate anus and anorectal atresia, neural tube abnormalities such as tethered-cord, diastematomyelia, lipomyelomeningosel and congenital narrow spinal tract or orthopaedic deformities such as dysplastic vertebrae, scoliosis, hip dislocation and contracture, knee flexion contracture accompanied by popliteal webbing, narrow pelvis, syringomyelia, club foot and frog leg [ 1 , 2 , 4 ]. Knee flexion contractures accompanied by popliteal webbing are the most difficult orthopaedic deformities to treat.…”

Caudal Regression Syndrome in a 12-Year-Old Boy Associated with Thecal Sac Ending at Fifth Lumbar Vertebrae Associated with Caudal Stenotic Dural Sac and Thickened Filum Terminale, Bifid Lumbar Vertebrae with Sacral Vertebral Agenesis: Pentads Defects

“…Surgical therapy is advised to the patients having treatable neural lesion, that is, tethered cord, dural canal stenosis, and myelocystocele. 9,16,19 Muthukumar et al 6 also advocated surgery, even in cases where sacral agenesis is associated with nonprogressive neurological deficit. The authors also previously recommended an early surgery which could prevent further neurological deficit and even advocated prophylactic surgical intervention.…”