# Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I – A Case Report

## TL;DR

This case report describes a rare combination of syringomyelia and movement disorders in a patient with trichorhinophalangeal syndrome type I.

## Contribution

It is the first report to link a triad of syringomyelia and two movement disorders to TRPS I.

## Key findings

- The patient exhibited syringomyelia, action tremor, and cervical dystonia.
- The movement disorders are likely secondary to syringomyelia caused by TRPS I.
- This case expands the known clinical spectrum of TRPS I.

## Abstract

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.

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.

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.

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.