title: 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.
authors.affiliation: Department of Gastroenterology and Hepatology, Eastern Health, Melbourne, Victoria, Australia.
authors.forename: A K
authors.initials: AK
authors.lastname: Asthana
authors.affiliation: Department of Gastroenterology and Hepatology, Eastern Health, Melbourne, Victoria, Australia.|Eastern Health Clinical School, Monash University, Melbourne, Victoria, Australia.
authors.forename: J S
authors.initials: JS
authors.lastname: Lubel
authors.affiliation: Department of Surgery, Eastern Health, Melbourne, Victoria, Australia.|Eastern Health Clinical School, Monash University, Melbourne, Victoria, Australia.
authors.forename: G P
authors.initials: GP
authors.lastname: Kohn
mesh_terms: D000293:Adolescent; D004931:Esophageal Achalasia / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D049630:Esophageal Sphincter, Lower / Q000503:physiopathology / Q000601:surgery; D006319:Hearing Loss, Sensorineural / Q000150:complications*; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications*; D006801:Humans; D008297:Male; D008365:Manometry; D014430:Twins, Monozygotic