Approach

Most neural tube defects are detected antenatally or at birth. The physical examination should include careful documentation of cranial nerve and cerebellar functioning, manual muscle strength testing and deep tendon reflexes, sensory level, presence of anal wink, and rectal tone. Investigations such as cranial ultrasound, CT head, and MRI of head and cervical spine are required if hydrocephalus or underlying structural anatomical abnormalities are suspected after birth. These baseline data are essential for patient management during acute illnesses. Any deterioration from baseline should be evaluated promptly with a high index of suspicion for progressive hydrocephalus or shunt malfunction (if present).

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