SEARCH RESULTS FOR: Spina-Bifida

Spina Bifida

↓ maternal dietary folate Spina Bifida: Pathogenesis and clinical findings Maternal obesity Maternal diabetes mellitus Maternal fungal fumonisin toxin exposure Metabolic syndrome Hyperglycemia Ceramide synthase inhibition Polymorphism of genes encoding MTHFR (methylene tetrahydrofolate reductase) Maternal valproic acid exposure Genetic factors (associated but not causative of NTDs) Potent histone deacetylase (HDAC) inhibition Disruption of genes of planar cell polarity pathway Trisomy 13 & 18 (mechanism unknown) Aberrant glucose control Reduced cell membrane folate-binding protein ↓ folate availability Disruption of Wnt signaling cascade MTHFR disfunction Mechanism unknown Suggested mechanism: disrupted Pax3 gene expression (mouse models) ↓ thymidine synthase activity Dihydrofolate reductase inhibition Disruption in gene expression DNA synthesis failure Aberrant cell migration during embryogenesis Primary neurulation failure (failed embryonic neural tube closure in the rostral–caudal axis) Neurulation failure (failed embryonic neural tube closure 4 weeks post-fertilization) Secondary neurulation failure (failed sacral and coccygeal spinal canalization) Meningeal and neuronal extrusion through incomplete vertebral arches without overlying skin Open spinal dysraphism Spina bifida aperta Failure of neural and mesodermal tissues to become distinct and spatially separated Myelomeningocele (bulging placode) Myelocele (placode flush with skin) Chiari II malformation (congenital posterior fossa malformation) Fetal protein leak into amniotic fluid and maternal circulation Neurodegeneration in utero due to amniotic fluid toxicity Skin overlying anomaly at the level of incomplete vertebral arch Closed spinal dysraphism Spina bifida occulta Tethered cord syndrome Adhered spinal cord subject to traction forces due to abnormal attachment Hydrocephalus ↑ Serum maternal alpha fetoprotein Findings at the level of the lesion ↑ fluid pressure on brain tissue Loss of motor & sensory function below level of dysraphism Ventriculomegaly Intellectual deficits Lipomyelocele (placode-lipoma interface within spinal canal) Lipomyelomeningocele (placode-lipoma interface outside spinal canal) Fatty filum (adipose infiltration of filum terminal) Split cord malformation (failed midline notochordal integration) Terminal myelocystocele (CSF filled cyst expanding spinal cord central canal) Meningocele (protrusion of meninges through vertebral arch deformity) Urinary & fecal Inability to walk incontinence Orthopedic sequelae: talipes (club foot), contractures, hip dislocation, scoliosis and kyphosis Lipomatous extrusion Sacral dimple Hairy patch Legend: Pathophysiology Mechanism Sign/Symptom/Lab Finding Complications Published Aug 4, 2025 on www.thecalgaryguide.com Authors: Aryan Zawari Reviewers: Nojan Mannani, Shahab Marzoughi, Dr. Jay Riva-Cambrin* *MD at time of publication