Abstract
Background: Trichorhinophalangeal syndrome type I (TRPS I) is a rare, autosomal dominant disorder characterized by facial abnormalities, sparse hair, and skeletal deformities, including the skull base.
Case Report: We report the case of a patient with TRPS I who was found to have syringomyelia and a movement disorder complex including action tremor and cervical dystonia.
Discussion: Syringomyelia has been reported to occur in TRPS I secondary to posterior fossa abnormalities. We postulate that the patient’s cervical dystonia and action tremor are secondary to syringomyelia. The authors review possible mechanisms and review literature of similar cases.
Highlights
This case report describes a patient with trichorhinophalangeal syndrome type I (TRPS I) with syringomyelia as well as action tremor and cervical dystonia. To our knowledge, this is the first report to demonstrate a triad of syringomyelia and two associated movement disorders with sequelae of TRPS I likely the ultimate cause.