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

Summary 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...

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Bibliographic Details
Published in:Diseases of the esophagus 2016-08, Vol.29 (6), p.691-694
Main Authors: Asthana, A. K., Lubel, J. S., Kohn, G. P.
Format: Article
Language:English
Subjects:
Adolescent
Esophageal Achalasia - complications
Esophageal Achalasia - diagnosis
Esophageal Achalasia - physiopathology
Esophageal Achalasia - therapy
Esophageal Sphincter, Lower - physiopathology
Esophageal Sphincter, Lower - surgery
Hearing Loss, Sensorineural - complications
Hereditary Sensory and Motor Neuropathy - complications
Humans
Male
Manometry
Twins, Monozygotic
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Summary:Summary 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.
ISSN:1120-8694
1442-2050
DOI:10.1111/dote.12111