Hereditary chronic intestinal pseudo-obstruction caused by a rare mutation: A case report.

BACKGROUND

Chronic intestinal pseudo-obstruction (CIPO) is a rare and debilitating disorder, characterized by severe impairments in gastrointestinal motility. The affected sites include the enteric/intrinsic autonomic nerves (neuropathy), intestinal smooth muscle cells (myopathy), and interstitial cells of Cajal (mesenchymopathy). The etiology can be genetic, idiopathic, or acquired. Owing to its nonspecific clinical presentation and lack of definitive diagnostic methods, misdiagnosis of CIPO is common.

CASE SUMMARY

This case involved an older male with insidious onset in adolescence who presented with postprandial bloating, intermittent diarrhea, and weight loss. During the disease course, the patient experienced two episodes of intestinal obstruction. Imaging revealed multisegmental digestive tract abnormalities (gastric emptying disorder, significant duodenal dilatation, and segmental jejunal dilatation). Whole-exome sequencing revealed a rare mutation [NM_001040113.2: C.5819del (p.Pro1940HisfsTer91)], confirming hereditary myopathic CIPO.

CONCLUSION

This report adds to our current understanding of CIPO etiology by reinforcing the role of variants in the pathogenesis of the CIPO phenotype.