Timothy C. Hain, MD

Last updated: January 21, 2008

Brown-Vialetto-Van Laere syndrome, pontobulbar palsy with deafness, is a rare disease of unknown origin. It was first reported in 1894 (Sathasivam et al. 2000). Only about 30 cases have been reported world-wide. It is characterised by progressive sensorineural deafness, followed or accompanied by motor cranial nerve palsies. Thus it is the combination of an ALS like condition (pontobulbar palsy) with progressive deafness.

Typical findings are facial weakness, atrophic tongue with fasiculations, deafness, and muscular weakness elsewhere. Some cases are sporadic, others are familial. No gene has yet been identified but autosomal recessive inheritance has been suggested. (Megarbane et al. 2000). In other cases autoimmune etiologies have been suggested (Sztajzel et al. 1998).

No treatment other than supportive treatment is known. Cases of this syndrome are generally reportable.

References:

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