Disclosures: Dana W. Miller, MD: Nothing to disclose

Case Description: A non-verbal 12-year-old with a history of Rubinstein-Taybi syndrome (RTS) and scoliosis had progressive feeding difficulties, weight loss and dysphagia over the course of 1 year, becoming dependent on tube feeding. Over this same time-course she was noted by therapists and psychologists to have increased anxiety, an increase in self-hitting behaviors, and a regression in balance, gross and fine motor skills. She had several hospitalizations for changes in respiratory status and pneumonias. The only imaging work-up she had throughout this year were Video Swallow Studies and chest x-rays. She was admitted to PICU approximately 1 year after onset of feeding difficulties for respiratory distress and aspiration pneumonia. During this time, she underwent a Brain/Orbital MRI to evaluate new anisocoria and optic nerve cupping. This MRI and subsequent spine MRIs showed an unexpected holocord syrinx from C2-L2 with expansion up through brainstem into medulla.

Setting: Tertiary Care Pediatric Hospital

Patient: 12-year-old girl with Rubinstein-Taybi Syndrome

Assessment/Results: Etiology of holocord syrinx was thought to be due to a tethered cord versus stenosis of the cranio-cervical junction, although no Chiari malformation or tethering lesion could be identified. She underwent a posterior fossa decompression w/ C1 laminectomy and dural decompression. Her course was further complicated by development of posterior reversible leukoencephalopathy syndrome (PRES), torticollis and clonus. She was admitted to pediatric inpatient rehabilitation for new functional deficits. Further developments and complications will be discussed.

Discussion: This is the first reported case, to our knowledge, of a child with Rubinstein–Taybi Syndrome developing syringomyelia and syringobulbia without the presence of a pre-existing Chiari malformation.

Conclusion: Although Rubinstein-Taybi Syndrome is associated with feeding and sensory issues, early imaging in the setting of new or progressive symptoms may assist to rule out underlying neurological causes.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/syringomyelia-in-a-child-with-rubinstein-taybi-syndrome-without-chiari-malformation-a-case-report/