Skeletal muscle weakness and dysphagia caused by acid maltase deficiency: nutritional consequences of coincident celiac sprue.
BACKGROUND
A 30-year-old woman with celiac sprue had progressive weight loss, myalgia, limb-girdle weakness, and dysphagia.


RESULTS
Barium swallow showed an atonic esophagus, and scintigraphic study confirmed esophageal dysmotility. Skeletal muscle biopsy showed characteristic appearances of acid maltase deficiency, which was confirmed by a reduction of leukocyte acid alpha-glucosidase activity.


CONCLUSIONS
Nutritional factors may have accelerated the presentation of the lysosomal storage disorder. This is the first reported case of dysphagia caused by esophageal motor weakness in acid maltase deficiency.
King
T S
TS
Department of Gastroenterology, University of Cambridge, Addenbrooke's Hospital, United Kingdom.
Anderson
J R
JR
Wraight
E P
EP
Hunter
J O
JO
Cox
T M
TM
D000328:Adult; D002446:Celiac Disease / Q000150:complications*; D003680:Deglutition Disorders / Q000150:complications* / Q000209:etiology*; D004032:Diet; D004386:Duodenum / Q000473:pathology; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D005983:Glutens / Q000008:administration & dosage / Q000009:adverse effects*; D006801:Humans; D018908:Muscle Weakness / Q000209:etiology* / Q000473:pathology
D005983:Glutens; D005087:Glucan 1,4-alpha-Glucosidase