Adult Form Acid Maltase Deficiency: A Case Report

Abstract

The case of a 26 year old man with acute respiratory difficulty was reported. Morphological and biochemical analysis of biopsied gastrocnemius muscle indicated a diagnosis of adult form acid maltase deficiency. Clinically, the most interesting point of our case wasthe presence of a thickening of the posterior papillary muscles and chordae without any functional disturbance, which was detected by echocardiogram. Another interesting point of our case was the existence of a sibling who died of progressive muscular dystrophy at the age of 31 years. This may raise the possibility that we are dealing with a familial type of adult form acid mlatase deficiency. © 1982, The Japanese Society of Internal Medicine. All rights reserved.