Alpers disease is a recessive mitochondrial disorder caused by mutations in 
POLG1 and characterized primarily by progressive neurological and hepatic 
degeneration. Intestinal dysmotility is a frequent symptom, but it is often 
overshadowed by other clinical manifestations. The onset and progression of 
Alpers disease vary; however, most patients die during childhood, often before a 
specific diagnosis has been established. The gastrointestinal neuromuscular 
pathology of 4 patients, obtained largely from postmortem specimens, showed 
distinctive eosinophilic cytoplasmic granules in a subset of enteric ganglia and 
patchy atrophy of small intestinal muscularis externa. The cytoplasmic 
inclusions corresponded to abnormal mitochondria, which have been reported 
previously in another mitochondrial disorder (mitochondrial 
neurogastrointestinal encephalomyopathy) but not in Alpers disease. Recognition 
of these distinctive light microscopic findings, in an appropriate clinical 
setting, should prompt the evaluation of an underlying primary 
mitochondriopathy.