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Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease
S G Kaler1, J A Westman, S M Bernes
1Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Abstract:
We describe two infants with Menkes disease who had serious gastrointestinal bleeding from solitary gastric polyps. Hemorrhage in one patient was acute and proved fatal. Histopathologic examinations showed submucosal vascular ectasia with mucosal hyperplasia, edema, and ulceration. Gastric polyps may represent an underappreciated clinical abnormality in Menkes disease.
Insights
Menkes disease can cause serious gastrointestinal bleeding in infants due to gastric polyps. These polyps, characterized by vascular changes, may be an underrecognized complication of this rare genetic disorder.
Area of Science:
- Pediatric Gastroenterology
- Medical Genetics
- Pathology
Background:
- Menkes disease is a rare X-linked recessive disorder affecting copper metabolism, typically presenting with neurological deficits and connective tissue abnormalities.
- Gastrointestinal complications are not commonly associated with Menkes disease, making unusual presentations significant.
Observation:
- Two infants diagnosed with Menkes disease presented with severe gastrointestinal bleeding.
- The bleeding originated from solitary gastric polyps in both patients.
Findings:
- Histopathological examination revealed submucosal vascular ectasia, mucosal hyperplasia, edema, and ulceration within the gastric polyps.
- One infant experienced acute hemorrhage, which was fatal, highlighting the potential severity.
Implications:
- Gastric polyps associated with vascular abnormalities should be considered in the differential diagnosis of gastrointestinal bleeding in infants with Menkes disease.
- This finding suggests that gastric polyps may be an underappreciated clinical manifestation of Menkes disease, warranting further investigation.