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Visceral myopathy of the gastrointestinal and genitourinary tracts in infants
M D Schuffler1, R A Pagon, R Schwartz
1Department of Medicine, Pacific Medical Center, Seattle, Washington.
Insights
A rare infantile form of visceral myopathy causes chronic intestinal pseudoobstruction in infants. This condition leads to severe gastrointestinal and urologic issues, proving fatal within 18 months.
Area of Science:
- Gastroenterology
- Pediatric Pathology
- Medical Genetics
Background:
- Chronic intestinal pseudoobstruction (CIPO) is a debilitating condition affecting gut motility.
- Visceral myopathy, a muscular disorder of the gastrointestinal tract, can cause CIPO.
- Infantile forms of CIPO are often poorly understood, necessitating further research.
Purpose of the Study:
- To describe a series of infants diagnosed with CIPO secondary to visceral myopathy.
- To characterize the clinical presentation, pathological findings, and outcomes of this infantile condition.
- To determine if this infantile form is pathologically identical to previously described adult forms.
Main Methods:
- Case series of 4 infants with CIPO.
- Clinical data collection including symptoms, age of onset, and diagnostic imaging (barium studies).
- Pathological examination of tissue samples from multiple organs; family history assessment.
Main Results:
- All 4 infants presented with CIPO, abdominal distention, emaciation, and severe gastrointestinal issues.
- Three infants had urologic obstruction signs, and pathological visceral myopathy was confirmed in multiple organs.
- Despite supportive care, all infants died between 10-18 months of age.
Conclusions:
- An infantile form of visceral myopathy causing CIPO exists.
- Pathologically, this infantile form is indistinguishable from adult visceral myopathy.
- This condition has a severe prognosis in affected infants.
Abstract:
We describe 4 infants who had chronic intestinal pseudoobstruction caused by visceral myopathy. Three of the 4 were girls. Two were symptomatic at birth and 2 were symptomatic by 3 wk of age. All had abdominal distention and emaciation, 3 of the 4 had severe obstipation and fecal impactions, and 3 had signs of urologic obstruction. All had gaseous distention of the small bowel and colon, and barium studies showed dilated small bowel and colon, with slow transport through the small intestine. Two of 3 had enlarged stomachs and slowed gastric emptying, and 3 had dilated bladders and ureters. The 1 infant studied by esophageal manometry had absence of esophageal contractions. Despite total parenteral nutrition in 3, all died within 10-18 mo. The pathologic features of visceral myopathy were identified in variable sample sites from the esophagus, stomach, small intestine, colon, bladder, and ureter of the 4 infants. Of 170 family members related to 3 of the infants, there was no consanguinity and no one appeared to be clinically affected. Thus, an infantile form of visceral myopathy exists which, pathologically, is identical to the familial and sporadic forms of visceral myopathy previously identified in adolescents and adults.
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