Craniorachischisis Totalis: A Detailed Case Report.

Area of Science:

• Obstetrics and Gynecology
• Developmental Biology
• Medical Genetics

Background:

• Neural tube defects (NTDs) are serious congenital anomalies impacting neural tube closure.
• Craniorachischisis totalis represents the most severe form, involving complete cranio-spinal axis failure.
• This condition is exceedingly rare and typically fatal.

Observation:

• A case of craniorachischisis totalis diagnosed at 20 weeks gestation.
• The fetus presented with anencephaly, spinal dysraphism, acrania, bifid and butterfly vertebrae, exposed neural tissue, frog-eye deformity, and limb contractures.
• Maternal folic acid supplementation was initiated after pregnancy confirmation.

Findings:

• Genetic and infectious workups were largely negative, with reactive rubella IgG noted.
• Retrospective ultrasound confirmed absent cranial vault, disorganized brain, and extensive spinal defect.
• The etiology is multifactorial, potentially involving genetic mutations, folate deficiency, and maternal risk factors.

Implications:

• This case underscores the critical importance of early prenatal diagnosis and genetic counseling for craniorachischisis totalis.
• Periconceptional folic acid supplementation is highlighted as the most effective preventive strategy for neural tube defects.
• Understanding the pathogenesis of neural tube closure is vital for future research and interventions.