Dysautonomic achalasia in two siblings with Sandhoff disease.
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.
Pellegrini
Michele
M
Digestive Surgery Unit, Department of Surgery and Surgical Specialities, University of Siena, Italy.
Zicari
Enza
E
Dotti
Maria Teresa
MT
Federico
Antonio
A
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