Sensorineural Hearing Loss,Early Greying,and Essential Tremor: A New Hereditary Syndrome?

Abstract

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.

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References

Koningsmark

Gorlin

. Genetic and Metabolic Deafness. Philadelphia: W.B. Saunders Co.; 1976.

Waardenburg

. A new syndrome combining developmental anomalies of the eyelids, eyebrows, and nose root with pigmentary defects of the iris and head, hair, and congenital deafness. Am J Hum Genet 1951; 3: 195–253.

Farrer

Asher

Baldwin

Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet 1994; 55: 728–37.

DiGeorge

Olmstead

Harley

. Waardenburg syndrome. J Pediatr 1960; 57: 649–69.

Ziprkowski

Adam

Recessive total albinism and congenital deaf-mutism. Arch Dermatol 1964; 89: 151–5.

Reed

Stone

Boder

Pigmentary disorders in association with congenital deafness. Arch Dermatol 1967; 95: 176–86.

Woolf

Dolowitz

Aldous

. Congenital deafness associated with piebaldness. Arch Otolaryngol 1965; 82: 244–50.

Margolis

A new hereditary syndrome—sex-linked deaf mutism associated with total albinism. Acta Genet (Basel) 1962; 12: 12–9.

Ziprkowski

Krakowski

Adam

Partial albinism and deaf mutism due to a recessive sex-linked gene. Arch Dermatol 1962; 86: 530–9.

10.

Telfer

Sugar

Jaeger

Dominant piebald trait (white forelock and leukoderma) with neurologic impairment. Am J Hum Genet 1971; 23: 383–9.

11.

Rozycki

Ruben

Rapin

Autosomal recessive deafness associated with short stature, vitiligo, muscle wasting, and achalasia. Arch Otolaryngol 1971; 93: 194–7.

12.

Spoendlin

Optic and cochleovestibular degenerations in hereditary ataxia. Brain 1974; 97: 41–8.

13.

Schimke

. Adult-onset hereditary cerebellar ataxia and neurosensory deafness. Clin Genet 1974; 6: 416–21.

14.

Goulding

Chalepakis

Deutsch

PAX-3, a novel murine DNA binding protein expressed during early neurogenesis. EMBO J 1991; 10(5):1135–47.

15.

Lang

Chen

Milewski

PAX3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. J Clin Invest 2000; 106(8):963–71.

16.

Minagar

Kelley

. Movement disorders. Prim Care 2004; 31: 111–27.

17.

Conway

Bain

Warner

Linkage analysis with chromosome 9 markers in hereditary essential tremor. Mov Disord 1993; 8(3):374–6.