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.


METHODS
Retrospective chart review.


METHODS
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.


CONCLUSIONS
We believe this represents a previously unreported hereditary syndrome.


CONCLUSIONS
This new syndrome should be considered in the context of other syndromes involving audition, pigmentation, and movement.
Karmody
Collin S
CS
Department of Otorhinolaryngology-Head and Neck Surgery, Tufts University School of Medicine, Boston, USA.
Blevins
Nikolas H
NH
Lalwani
Anil K
AK
D000328:Adult; D000368:Aged; D019588:Aging, Premature / Q000235:genetics*; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000150:complications* / Q000235:genetics; D006200:Hair Color; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012189:Retrospective Studies; D013577:Syndrome; D014717:Vertigo / Q000209:etiology