Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease

Abstract

Background:Menkes disease (MD) is a disorder of copper metabolism due to ATP7A gene mutation that leads to severe copper deficiency. Deformed blood vessels can be found in many parts of the body, and intracranial hematoma is generally reported.Methods:We report a Taiwanese boy with MD who had recurrent spontaneous subserosal hematoma of ileum presenting as intestinal obstruction, with the 2 episodes 23 months apart. The patient returned to the usual physical status after surgical removal of the hematoma.Results:The defective copper metabolism causes dysfunction of a plenty of copper-dependent enzymes, giving rise to unique kinky hair appearance, progressive neurodegeneration, and connective tissue abnormalities. To our knowledge, this is the first report on recurrent subserosal hemorrhage of intestine in MD.Conclusion:Owing to the fragile structure of blood vessels, subserosal hematoma should be considered when patients with MD having intestinal obstruction.

Spontaneous retroperitoneal hemorrhage in Menkes disease

“…Recurrent spontaneous subserosal hemorrhage of the ileum was reported in a 3-year-old patient with MD and led to intestinal obstructions. [ 15 ] Belsha et al [ 9 ] described a multilobulated hyperplastic polyp with extensive involvement of the antrum and pylorus of the stomach in a 5-month-old patient with MD, and it caused marked upper gastrointestinal tract bleeding. A hyperplastic polyp of such a large size in infancy is extremely rare, and it was hypothesized that mucosal redundancy owing to LO deficiency in combination with chronic pressure during gastric peristalsis at the pyloric outlet predisposed the patient to polyp formation.…”

Rehabilitation training following retroperitoneal haemorrhage: A case report and review of the literature

“…Weng et al reported a case of MD complicated with retroperitoneal hematoma (RPH), which is very rare in children. Spontaneous RH in children mostly occurs as a complication of other diseases ( 16 ).…”