Distressing belching and neuroacanthocytosis.
We report on an uncommon manifestation of molecularly proven neuroacanthocytosis in a 32-year-old man in whom dyspnea with desaturation while awake accompanied by continuous involuntary belching were the major consequences of the disease.
Sibon
Igor
I
Fédération de Neurosciences Cliniques, Centre Hospitalier Universitaire Bordeaux, Bordeaux-cedex, France. igor.sibon@chu-bordeaux.fr
Ghorayeb
Imad
I
Arné
Pierre
P
Tison
François
F
D000328:Adult; D002819:Chorea / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D003964:Diaphragm / Q000503:physiopathology; D004108:Dilatation, Pathologic / Q000503:physiopathology; D004576:Electromyography; D004585:Electrooculography; D004884:Eructation / Q000150:complications* / Q000503:physiopathology; D041981:Gastrointestinal Tract / Q000503:physiopathology; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics; D017286:Polysomnography; D011506:Proteins / Q000235:genetics; D033921:Vesicular Transport Proteins
D011506:Proteins; C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins