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Bean Syndrome in a Child Treated with Sirolimus: About a Case
Ayad Ghanam1,2, Aziza Elouali1,2, Merouane Nour2,3
1Department of Pediatrics, Mohammed VI University Hospital, Oujda, Morocco.
Case Reports in Pediatrics
|June 3, 2022
Summary
Blue rubber bleb nevus syndrome (BS) is a rare condition with venous malformations. Sirolimus effectively treated a child with BS, resolving bleeding and reducing malformations.
Area of Science:
- Vascular malformations
- Pediatric case study
- Rare diseases
Background:
- Blue rubber bleb nevus syndrome (BS) is a rare vascular anomaly presenting with skin and gastrointestinal venous malformations.
- Hemorrhagic complications of BS can be life-threatening, posing significant diagnostic and management challenges.
Observation:
- A 3-year-old child initially diagnosed with miliary hemangiomatosis presented with a large thigh mass and progressive skin lesions.
- Initial treatment with beta-blockers was ineffective, and the patient experienced severe anemia and melena due to an angioma causing gallbladder intussusception.
Findings:
- Diagnosis was revised to BS based on cutaneous and digestive venous malformations.
- Sirolimus (rapamycin) treatment led to significant improvement, with no further bleeding episodes and regression of cutaneous angiomas over 18 months.
Implications:
- This case highlights the diagnostic difficulties of BS due to its rarity.
- Sirolimus demonstrates efficacy and good tolerability as a therapeutic option for Blue Rubber Bleb Nevus Syndrome.
