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Updated: Jun 21, 2026
06:55
Ileectomy-induced Bile Overaccumulation in Mouse Intestine
Published on: August 21, 2017
[Ascites in Mulibrey syndrome].
1Interní hepatogastroenterologická klinika Lékarské fakulty MU a FN Brno. lhusova@fnbrno.cz
Vnitrni Lekarstvi
|August 11, 2009
Summary
Mulibrey syndrome, a rare genetic disorder, presents with multiple malformations. This case highlights the management of cardiac dysfunction and ascites in a 22-year-old male through diuretic and conservative therapies.
Area of Science:
- Genetics
- Pediatrics
- Cardiology
Background:
- Mulibrey syndrome is an autosomal recessive hereditary disease characterized by multiple congenital malformations.
- Early diagnosis relies on clinical signs such as facial dysmorphia, growth disorders, and muscle hypotrophy, confirmed by genetic testing.
Observation:
- A 22-year-old male with Mulibrey syndrome presented with a history of Wilms' tumor at 18 months.
- Facial, neck, and lower extremity edema, along with diastolic ventricular dysfunction, appeared at age 11.
- Pericardiectomy at age 13 had minimal clinical impact, and significant ascites became prominent, requiring paracentesis.
Findings:
- Diastolic ventricular dysfunction and significant ascites were key complications.
- Conservative management, including adequate diuretic therapy, effectively controlled ascites and improved symptoms.
- Pericardiectomy showed limited efficacy in managing the cardiac and fluid overload issues.
Implications:
- This case underscores the importance of comprehensive management for Mulibrey syndrome complications.
- Effective management of ascites and cardiac dysfunction can be achieved through conservative and pharmacological approaches.
- Further research into the long-term cardiac manifestations and therapeutic strategies for Mulibrey syndrome is warranted.
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