Cystathionine beta synthase gene (CβS) catalyzes the condensation of homocysteine with serine, forming cystathionine by the transsulfuration pathway. Disruption of CβS enzyme activity due to defective folic acid metabolism increases the risk factor for neural tube defects. We evaluated the CβS gene mutation in 25 children with neural tube defects (NTDs), including lumbosacral and thoraci...

PURPOSE To describe the performance of individuals with myelomeningocele regarding psycholinguistic and scholastic abilities. METHODS Participants were five individuals with myelomeningocele and lumbar sacral abnormalities, and chronological age between 9 years and 10 months and 11 years and 7 months (Group 1 - G1); five subjects with typical development (Group 2 - G2), matched to G1 for age,...

Objectives. The aim of this randomized controlled prospective study is to evaluate the efficacy of cranberry capsules for prevention of UTI in children with neurogenic bladder caused by myelomeningocele. Patients and Methods. To be eligible for this study, patients had to be diagnosed as neurogenic bladder caused by myelomeningocele, evaluated urodynamically, followed up with clean intermittent...

Results We present the case of a 29-year-old pregnant woman referred to our center due to dichorionic diamniotic twin pregnancy (concordant with sex), hypothyroidism and fetal spina bifida associated to Arnold-Chiari malformation type II. She denied the use of folic acid supplementation during pregnancy. The previous pregnancy was uneventful. The patient's husband was a 32-year-old and nonconsa...

OBJECTIVE Mirror movements (MM) have been described in several pathological conditions. Their association with neural tube defects is rare, and only 5 cases have been reported in literature to date. We report on a case of MM associated with cervical myelomeningocele, and we discuss the diffusion tensor imaging findings and the underlying mechanism.

More children with spina bifida cystica are surviving today because of improved operative treatment and clinical care. Problems arising from spinal deformity in these children are presenting more often for treatment. The purpose of this paper is to observe the natural course of kyphotic spinal deformity seen in association with spina bifida cystica. Specific attention is focused on kyphosis bec...

Convex pes valgus (vertical talus) is a rare form of congenital foot deformity, the etiology of which remains unexplained. The 10 per cent incidence in a large series of patients with foot deformities in myelomeningocele (Sharrard and Grosfield 1968) suggests that a specific neuromuscular imbalance may be responsible, at least in myelodysplastic patients, for the development of the “Persian sli...

Myelomeningocele is a congenital defect in vertebral arches with cystic dilatation of meninges and structural or functional abnormality of spinal cord or cauda equina. It is a form of spinal dysraphisam with overlying skin defect (spina bifida aperta). That condition is related to other clinical complications such as infection that can produce furthermore complications. To prevent rate of compl...

A total of 113 cases of open myelomeningocele operated on shortly after birth were followed up and the 80 survivors (71%) were assessed one and a quarter to seven and a half years later. Their disability was classified in terms of mobility, intelligence, continence, and major complications; these when combined provided an assessment of overall disability. The overall disability of the survivors...

We describe a seminal case report of a child with a tethered cord syndrome secondary to the unusual constellation of a split cord malformation, lumbar myelomeningocele, and coexisting neurenteric cyst. A 17-year-old adolescent girl with a several-month history of myelopathy and urinary incontinence was examined whose spinal MRI scan demonstrated a type II split cord malformation with a large bo...