Rachischisis totalis without acrania in a newborn male

BACKGROUND: Rachischisis totalis is a rare open neural tube defect often associated with lethal acrania. When acrania is not present, mortality remains high and morbidity for survivors is extreme. PATIENT: We describe is a term newborn with in-utero diagnosed rachischisis totalis without acrania and Chiari II malformation with subsequent hydrocephalus. RESULTS: At birth, clinical examination revealed rachischisis totalis without acrania. The spinal defect extended from the mid-cervical to the lower sacral vertebrae. Serial cranial ultrasonography and brain MRI revealed Chiari II malformation with severe hydrocephalus. The spinal defect was closed and a ventriculoperitoneal shunt placed to relieve the hydrocephalus. The clinical course was complicated by significant central apnea, often necessitating aggressive resuscitation and chest compressions. The infant has survived with expected severe developmental delay but has graduated from hospice care. CONCLUSION: This report demonstrates that survival with variable function and quality of life is possible with severe open neural tube defects. A multidisciplinary team approach including family-centered care must be used early to overcome the many ethical challenges that such patients present.