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Spontaneous retroperitoneal hemorrhage in Menkes disease: A rare case report
Chia-Huei Peng1, Chyong-Hsin Hsu, Nien-Lu Wang
1Department of Pediatric Gastroenterology, Hepatology and Nutrition Department of Neonatology Department of Pediatric General Surgery and Urology Department of Genetics and Metabolism, MacKay Children's Hospital, Taipei Department of Medicine, MacKay Medical College, New Taipei City Division of Biochemical Genetics, Department of Medical Research, MacKay Memorial Hospital Department of Early Childhood Care, National Taipei University of Nursing and Health Sciences MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
Rationale:
Menkes disease (MD), also known as Menkes kinky hair disease, is a fatal neurodegenerative disease caused by a defect in copper metabolism. The symptoms involve multiple organ systems, such as the brain, lung, gastrointestinal tract, urinary tract, connective tissue, and skin. There is currently no cure for this disease entity, and patients with the classic form of MD usually die from complications between 6 months and 3 years of age. Intracranial hemorrhage secondary to tortuous intracranial arteries is a well-known complication of MD, but spontaneous retroperitoneal hemorrhage, to the best of our knowledge, has never been reported in a patient with MD. Herein, we describe the first case of retroperitoneal hematoma as a complication of MD in a 4-year-old boy.
Patient Concerns:
A 4-year-old Taiwanese male patient with MD was referred to the hospital and presented with a palpable epigastric mass.
Diagnoses:
On the basis of the findings of ultrasonography and enhanced computed tomography, the diagnosis was retroperitoneal hematoma.
Interventions:
Interventions included laparotomy with evacuation of the hematoma, manual compression, and suture of the bleeding vessels.
Outcomes:
There were no postoperative complications.
Lessons:
This case emphasizes that bleeding in patients with MD is possible at any site in the body owing to the unstable structure of the connective tissues. Timely diagnosis with proper imaging studies can lead to prompt and appropriate management and save patients from this life-threatening condition.
Insights
Menkes disease (MD) can cause bleeding anywhere, including the retroperitoneum. This case highlights the first reported retroperitoneal hematoma in a 4-year-old boy with MD, emphasizing prompt diagnosis and management.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Medicine
Background:
- Menkes disease (MD) is a fatal neurodegenerative disorder impacting copper metabolism and connective tissues.
- Classic MD leads to death in early childhood, with intracranial hemorrhage a known complication.
Observation:
- A 4-year-old boy with MD presented with a palpable epigastric mass.
- Ultrasonography and CT scans confirmed a retroperitoneal hematoma.
Findings:
- The patient underwent laparotomy for hematoma evacuation and vessel repair.
- No postoperative complications were observed.
Implications:
- This case is the first report of retroperitoneal hemorrhage in MD.
- It underscores the risk of bleeding at any site in MD patients due to connective tissue instability.
- Early diagnosis and intervention are crucial for managing this life-threatening complication.
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