[Myopathy caused by acid maltase deficiency in an adult].
We report a 46 years old male presenting with tetraparesis and severe respiratory involvement. He had moderately elevated serum creatine phosphokinase values and the electromyography showed myopathic alterations and irritative signs. In the muscle biopsy, a vacuolar myopathy with increased collagen deposits was found. Circulating lymphocytes presented abnormal PAS positive granules in their cytoplasm.
Depto de Ciencias Neurológicas, Hospital del Salvador, Santiago de Chile.
L
L
Cartier
J G
JG
Cea
A
A
Slachevsky
D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D006009:Glycogen Storage Disease Type II / Q000209:etiology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000150:complications / Q000209:etiology* / Q000473:pathology; D012131:Respiratory Insufficiency / Q000150:complications; D000520:alpha-Glucosidases
D003402:Creatine Kinase; D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase
Miopatía por déficit de maltasa ácida en el adulto.