Neurosurgical Management of Rubinstein-Taybi Syndrome: An Institutional Experience.

Abstract

Rubinstein-Taybi syndrome (RTS) is a rare genetic condition with a distinctive set of physical features. This case series reports a single institutional experience of RTS cases, highlighting the role of neurosurgery in the comprehensive management of RTS patients. A retrospective review of patients with genetically confirmed RTS presenting between 2010-2023 at Children's Hospital of Pittsburgh was performed. Patient demographics, genetic profile, clinical symptoms, radiographic characteristics, and neurosurgical management were recorded for all patients. Twenty-one patients (13 females, 8 males) aged 0 to 22 years presented for formal genetic counseling and diagnosis. Twenty patients (95%) had CREBBP pathogenic variants (RTS Type 1), and one patient (5%) had EP300 pathogenic variants (RTS Type 2). Ten patients (48%) had a low-lying conus medullaris, and three patients (30%) underwent subsequent spinal cord detethering. Four patients (19%) had a Chiari malformation and three (75%) underwent Chiari decompression surgeries. One patient (5%) had Chiari-associated syringomyelia. RTS patients have an increased rate of tethered cord syndrome requiring detethering. The incidence of symptomatic Chiari I malformation requiring decompression has not been previously reported. The RTS series presented here demonstrates a high incidence of symptomatic Chiari I malformation in addition to tethered cord syndrome.