# Rare Syndromes & Case Reports — GCMD Library living collection

Updated: n/a · 1 episodes · 15 cited statements

## Episodes
### Genetic Syndromes
- [Neurosurgical Manifestations and Management in Rubinstein-Taybi Syndrome](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824) — video · 2:33 · [machine version](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824.md)

## Chapters
- [0:01](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=1) Primary CNS pathologies in Rubinstein-Taybi syndrome (Ep 1)
- [0:50](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=50) Clinical presentations and parent experiences with tethered cord (Ep 1)
- [1:41](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=101) Postoperative follow-up and surveillance recommendations (Ep 1)

## Statements
Every statement is attributed, typed, and timestamped; the link is the citation.
- 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. (clinical) [Ep 1 · 0:01](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=1)
- Brain tumors can occur in RTS patients and may be benign or malignant. (clinical) [Ep 1 · 0:20](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=20)
- RTS patients can have upper cervical spine anomalies such as abnormal formation of the bones around C1 and C2. (clinical) [Ep 1 · 0:26](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=26)
- Chiari One malformation can occur at the craniocervical junction in RTS, with or without a syrinx. (clinical) [Ep 1 · 0:37](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=37)
- Tethered cord syndrome can occur in the lower spine in RTS patients. (clinical) [Ep 1 · 0:44](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=44)
- Tethered cord may present with changes in ambulation pattern such as toe-walking or abnormalities in urinary or bowel incontinence. (clinical) [Ep 1 · 0:50](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=50)
- Sophia was potty trained at an early age and walks normally, so her low-lying cord has been managed with observation rather than surgery. (clinical) [Ep 1 · 1:02](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=62)
- Sophia has completed growth and the low-lying cord has not caused issues, so surgery is unlikely at this point. (clinical) [Ep 1 · 1:12](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=72)
- Jet underwent tethered spinal cord surgery approximately two years ago. (clinical) [Ep 1 · 1:21](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=81)
- Jet's parent noticed a clinical difference in him following tethered cord surgery. (opinion) [Ep 1 · 1:37](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=97)
- Standard postoperative follow-up includes a visit within two weeks to assess wound healing. (clinical) [Ep 1 · 1:41](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=101)
- A three-month follow-up visit assesses clinical improvement related to the indication for surgery. (clinical) [Ep 1 · 1:50](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=110)
- After the three-month visit, patients are typically seen yearly for a few years. (clinical) [Ep 1 · 2:00](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=120)
- Younger patients are followed longer as they continue to develop; older patients may not be followed as long. (clinical) [Ep 1 · 2:04](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=124)
- Given the range of CNS pathologies in RTS, surveillance imaging may be preferable to waiting for specific symptoms to occur. (opinion) [Ep 1 · 2:10](https://library.globalcastmd.com/watch/neurosurgical-manifestations-and-management-in-rubinstein-taybi-syndrome-16824?t=130)

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