Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report

Medicine
Ke-Ling WangLi-Ping Zou

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations. The gastrointestinal bleeding and secondary iron deficiency anemia are the most common complications. There are currently no effective treatments for BRBNS. Here, we report a case of successful treatment with a small dose of sirolimus of a BRBN patient with a de novo gene mutation. A 12-year-old female was admitted to our hospital with multiple hemangiomas for 12 years. The patient often displayed melena; she recently received transfusion of 2 units of red blood cells once every 2 weeks. Multiple fist-sized hemangiomas were piled up on both sides and back of the neck, and were also noted on the arms, legs, chest, back, and on the tip of the tongue. The laboratory findings demonstrated severe anemia. Blood sample sequencing detected a heterozygous de novo mutation c.2545C > Tin the TEK gene. Based on these findings, final diagnosis of Blue rubber bleb nevus syndrome (BRBNS) was made. After the diagnosis, low-dose sirolimus was orally administered. The patient's hemoglobin was increased after treatment with sirolimus for 1 month. Since the initial treatment with sirolimus, she had not received any blood transfusions. The skin...Continue Reading

References

May 17, 2002·European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Für Kinderchirurgie·M DòminiP Lelli Chiesa
May 25, 2002·Journal of Child Neurology·Jesús Eirís-PuñalManuel Castro-Gago
Apr 24, 2008·AJR. American Journal of Roentgenology·Khaled M ElsayesJay P Heiken
Jul 15, 2009·Advances in Cancer Research·Bing-Hua Jiang, Ling-Zhi Liu
Nov 6, 2009·European Journal of Human Genetics : EJHG·Vinciane WoutersMiikka Vikkula
Apr 24, 2010·Journal of Paediatrics and Child Health·Nitin Gupta, Andrew S Day
Apr 27, 2010·Journal of Paediatrics and Child Health·Bulbul GuptaSatish Agarwal
Mar 30, 2011·Pediatric Blood & Cancer·Adrienne M HammillDenise M Adams
Mar 7, 2012·Pediatrics·Hasan YuksekkayaHatice Toy
Apr 17, 2012·Cell·Mathieu Laplante, David M Sabatini
Dec 19, 2013·Indian Journal of Pediatrics·Ramaswamy GaneshMalathi Sathiyasekaran
Jun 1, 2014·Ophthalmic Plastic and Reconstructive Surgery·Pari N ShamsDinesh Selva
Jul 22, 2014·Seminars in Plastic Surgery·Judith F MargolinSheena Pimpalwar
Sep 23, 2014·Seminars in Pediatric Surgery·Roshni Dasgupta, Steven J Fishman
Dec 11, 2014·World Journal of Gastroenterology : WJG·Xue-Li JinXiao-Ying Zhao
Nov 14, 2015·Handbook of Clinical Neurology·Fanny BallieuxMiikka Vikkula
Jun 9, 2016·Pediatric Blood & Cancer·Ralph SalloumDenise M Adams

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Citations

Dec 20, 2018·Journal of Paediatrics and Child Health·Xin Lin WongDeshan F Sebaratnam
Nov 8, 2018·Case Reports in Pediatrics·Ugochi O OguJanice M Staber
Feb 11, 2021·Plastic and Reconstructive Surgery. Global Open·Mohammad M Al-Qattan
Oct 1, 2021·The Journal of International Medical Research·Jinzhong DuanmuXiong Lei
Dec 12, 2018·Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre·Yi PanWeifeng Li
Nov 5, 2019·Journal of Vascular Surgery·Cristiana FreixoJoaquim Ferreira

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