Sensorineural hearing loss, early greying, and essential tremor: a new hereditary syndrome?

OBJECTIVE

To present a syndrome composed of sensorineural hearing loss, early greying of scalp hair, and adult-onset essential tremor.

STUDY DESIGN

Retrospective chart review.

SETTING

Tertiary care academic hospital.

RESULTS

Three individuals were seen with this triad, each with family members with similar features. Our patients are a 65-year-old man and two women in their 40s. Two noted hearing loss in adulthood, one as a child. All had complete greying in their 20s. The women developed essential tremor in their 20s, and the man in his 50s. All individuals have blue eyes without heterochromia. Additional evaluation failed to further categorize these patients. Each has two or more immediate family members with a combination of these findings. Molecular genetic testing suggests this is not a variant of Waardenburg syndrome.

CONCLUSION

We believe this represents a previously unreported hereditary syndrome.

SIGNIFICANCE

This new syndrome should be considered in the context of other syndromes involving audition, pigmentation, and movement.