title: Dysautonomic achalasia in two siblings with Sandhoff disease.
abstract: Two siblings in their sixth decade with chronic Type II GM2 gangliosidosis developed progressive dysphagia in addition to chronic motor neuron disease and autonomic nervous system (ANS) involvement. Esophageal achalasia was diagnosed in both patients. It is suggested that this esophageal motor disorder may be a manifestation of the neurovegetative system disorder due to alteration of ganglioside metabolism.
authors.affiliation: Digestive Surgery Unit, Department of Surgery and Surgical Specialities, University of Siena, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Pellegrini
authors.forename: Enza
authors.initials: E
authors.lastname: Zicari
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D001342:Autonomic Nervous System Diseases / Q000150:complications*; D004931:Esophageal Achalasia / Q000209:etiology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012497:Sandhoff Disease / Q000150:complications*; D035781:Siblings