Novel association of achalasia with hereditary sensory and motor neuropathy with sensorineural deafness.

Abstract:

:Achalasia is a primary esophageal motility disorder. Unlike diffuse esophageal spasm, it has not previously been described in association with hereditary sensory and motor neuropathy (HSMN). An 18-year-old-male with HSMN with sensorineural deafness presented with a 2-day history of dysphagia to solids and liquids. Achalasia was diagnosed after extensive investigations, and his symptoms resolved with endoscopic and definitive surgical management. His monozygotic twin brother had also been diagnosed with HSMN and suffered from chronic dysphagia, which was also subsequently diagnosed with achalasia. This is the first case to illustrate an association between HSMN with sensorineural deafness and achalasia.

journal_name

Dis Esophagus

authors

Asthana AK,Lubel JS,Kohn GP

doi

10.1111/dote.12111

subject

Has Abstract

pub_date

2016-08-01 00:00:00

pages

691-4

issue

6

eissn

1120-8694

issn

1442-2050

journal_volume

29

pub_type

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