Neurosurgical Manifestations and Management in Rubinstein-Taybi Syndrome
With Dr. Francesco T. Mangano
Chapter 1 of 3
CNS pathologies
Primary CNS pathologies in Rubinstein-Taybi syndrome
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What the experts said
By the time RTS patients are seen in neurosurgical clinics, they have been evaluated by many specialists and have a true neurological and neurosurgical condition.
Brain tumors can occur in RTS patients and may be benign or malignant.
RTS patients can have upper cervical spine anomalies such as abnormal formation of the bones around C1 and C2.
Chiari One malformation can occur at the craniocervical junction in RTS, with or without a syrinx.
Tethered cord syndrome can occur in the lower spine in RTS patients.
Tethered cord may present with changes in ambulation pattern such as toe-walking or abnormalities in urinary or bowel incontinence.
Sophia was potty trained at an early age and walks normally, so her low-lying cord has been managed with observation rather than surgery.
Sophia has completed growth and the low-lying cord has not caused issues, so surgery is unlikely at this point.
Jet underwent tethered spinal cord surgery approximately two years ago.
Jet's parent noticed a clinical difference in him following tethered cord surgery.
Standard postoperative follow-up includes a visit within two weeks to assess wound healing.
A three-month follow-up visit assesses clinical improvement related to the indication for surgery.
After the three-month visit, patients are typically seen yearly for a few years.
Younger patients are followed longer as they continue to develop; older patients may not be followed as long.
Given the range of CNS pathologies in RTS, surveillance imaging may be preferable to waiting for specific symptoms to occur.