Congenital visceral myopathy with a predominantly hypertrophic pattern treated by multivisceral transplantation

• Published in: Human pathology Vol. 39; no. 6; pp. 970 - 974
• Main Authors: Koh, Stephen, MD, Bradley, Robert F., MD, French, Samuel W., MD, PhD, Farmer, Douglas G., MD, Cortina, Galen, MD, PhD
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01-06-2008; Elsevier; Elsevier Limited
• Subjects: Adult; Biological and medical sciences; Female; Humans; Hypertrophy; Intestinal Pseudo-Obstruction - congenital; Intestinal Pseudo-Obstruction - pathology; Intestinal Pseudo-Obstruction - surgery; Intestine; Intestines - transplantation; Investigative techniques, diagnostic techniques (general aspects); Liver Cirrhosis - etiology; Liver Cirrhosis - pathology; Liver Cirrhosis - surgery; Liver Transplantation; Medical sciences; Mucous Membrane - pathology; Muscle, Smooth - pathology; Muscular Diseases - congenital; Muscular Diseases - pathology; Muscular Diseases - surgery; Myopathy; Pancreas Transplantation; Parenteral Nutrition, Home Total; Pathology; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Pseudoobstruction; Transplantation; Transplantation, Homologous; Transplants; Visceral; Visceral; Pseudoobstruction; Transplantation; Intestine; Myopathy; Anatomic pathology; Treatment; Congenital; Digestive system; Gut; Pseudoostruction; Hypertrophy; Viscus
• ISSN: 0046-8177; 1532-8392
• DOI: 10.1016/j.humpath.2007.10.016

Summary Chronic intestinal pseudoobstruction due to visceral myopathy may cause intestinal failure. The anatomical pathology of visceral myopathy is dominated by an atrophic muscularis propria. We present a case that is overwhelmingly dominated by a hypertrophic muscularis propria. The hypertrophic pattern was documented from ages 2 to 28 years. Most descriptions of visceral myopathy focus on the atrophic pattern of injury to the muscularis propria, typified by vacuolar degeneration of myocytes, loss of muscle fibers, and frequently with a honeycomb pattern of fibrosis. Hypertrophic changes can be observed in visceral myopathy, but the hypertrophy typically represents only a minor feature, typically limited to the internal layer of the muscularis propria. In our patient, the observed muscular hypertrophy differed from most descriptions because it ( a ) was the dominant pattern of injury and ( b ) involved both layers of muscularis propria rather than just the inner circular layer. The patient had intestinal failure and the complications induced cirrhosis, eventually treated by multivisceral transplantation to correct the intestinal failure and cirrhosis.