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[A case of Menkes disease with urinary bladder hemorrhage]
Hiroshi Ozawa1, Hiroko Kodama, Seiji Noma
1Department of Pediatrics, Tokyo Metropolitan Hachioji Children's Hospital, Hachioji, Tokyo.
Abstract:
We report a case of Menkes disease with urinary bladder hemorrhage. Diverticulums were found at 1 year and 3 months of age. He had repetitive urinary tract infections at 2 years old and died of urinary hemorrhage at 2 years and 9 months. Large hematoma and diverticulum were found at necropsy. In patients with Menkes disease, attention should paid to urinary complications.
Insights
Menkes disease can cause urinary bladder hemorrhage and diverticulums, leading to fatal urinary bleeding. Early recognition of urinary complications in Menkes disease patients is crucial.
Area of Science:
- Pediatric Genetics
- Urology
- Rare Diseases
Background:
- Menkes disease is a rare X-linked recessive disorder characterized by copper metabolism defects.
- These defects lead to neurodevelopmental issues and connective tissue abnormalities.
- Urinary tract complications are not commonly associated with Menkes disease.
Observation:
- A pediatric case of Menkes disease presented with urinary bladder hemorrhage.
- Diverticulums were identified in the urinary bladder at 1 year and 3 months of age.
- The patient experienced recurrent urinary tract infections starting at 2 years old.
Findings:
- The patient succumbed to severe urinary hemorrhage at 2 years and 9 months.
- Necropsy revealed a large hematoma and a significant diverticulum in the urinary bladder.
- These findings indicate a direct link between Menkes disease and urinary tract pathology.
Implications:
- This case highlights the potential for severe urinary complications in patients with Menkes disease.
- Increased vigilance for urinary issues, including hemorrhage and diverticulums, is warranted in the management of Menkes disease.
- Further research may elucidate the mechanisms connecting copper metabolism defects to bladder abnormalities.