Diagnosis is often made in utero. The defect is visible on examination, and disruption of the sac can result in drainage of cerebrospinal fluid (CSF). Positional deformities of the feet, legs, and hips are common. Weakness and sensory loss below the level of the meningomyelocele may be partial or complete. Bowel and bladder involvement are common.
There is a high association with Chiari II malformations. Hydrocephalus can occur and may be present at birth or manifest later in the newborn period.
This NTD warrants early surgical closure. Survival rates are good with surgical repair, but patients often require long-term care and follow-up with multidisciplinary teams.
Related topic: spina bifida
Q05.9 – Spina bifida, unspecified
414667000 – Meningomyelocele
Differential Diagnosis & Pitfalls