Sporadic Visceral Myopathy: Full Thickness Rectal Biopsy to Clinch the Diagnosis

Abstract

Chronic intestinal pseudo-obstruction (CIPO) may result from dysfunctional intestinal nerves or muscles. Primary causes are uncommon and include familial and sporadic visceral myopathies. Visceral myopathy may be characterized by CIPO, ureterohydronephrosis, and hepatobiliary dilation. The diagnosis is made by the clinical history and characteristic findings of fibrous replacement of the muscularis externa, vacuolar degeneration, and cytoplasmic inclusions in myocytes on a full thickness specimen of affected viscera. Few case reports highlight sporadic hollow visceral myopathy (SHVM) in an adult involving the entire GI, biliary, and urinary tract, We present a unique case of abrupt onset of CIPO, biliary and urinary tract dilation in a 35-year-old Mexican woman, initially presumed to have lupus enterocolitis, and after failure to respond to immune modulating therapy, diagnosed by full thickness rectal biopsy with SHVM, Early full thickness biopsy of affected viscera in patients presenting with CIPO with associated biliary and urinary tract dilation should be considered. Our case demonstrates the safety and adequacy of a full thickness rectal biopsy in making a diagnosis of SHVM.