Abdelbaky Mohamed Aly, Ragab Iman Ahmed, AbouZeid Amr AbdelHamid, Mohammad Shaimaa Abdelsattar, Dahab Mohamed Moussa, Elsherbeny Mohammed, Safaan Hatem Abdelkader
Department of Pediatric Surgery, Ain Shams University Faculty of Medicine, Cairo, Egypt.
Department of Pediatrics, Ain Shams University, Faculty of Medicine, Cairo, Egypt.
European J Pediatr Surg Rep. 2020 Jan;8(1):e90-e94. doi: 10.1055/s-0040-1716895. Epub 2020 Dec 15.
Venous malformations represent a major sector of vascular anomalies. Most cases are asymptomatic or subclinical; however, large extensive lesions can cause severe disability and sometimes mortality. In this report, we present a successful case of sirolimus treatment in managing an extensive venous malformation in the pelvis of a 21-month-old boy who presented with life-threatening complications. With a history dating since the day 2 of life, the patient suffered from chronic bleeding due to scrotal skin ulcerations, in addition to recurrent attacks of severe bleeding per rectum necessitating hospital admission and blood transfusion (three attacks since the age of 7 months). Pelvic magnetic resonance image showed the typical findings of extensive venous malformation involving the pelvis, perineum, scrotum, and extending to the gluteal region. The lesion was seen totally encasing the anorectum with marked thickening of their walls almost occluding their lumen. Oral sirolimus (2 mg/m ) was started with a target blood trough level of 5 to 10 ng/mL. Over a follow-up period of 5 months, there was obvious clinical improvement that included healing of skin lesions (scrotal ulcer) with complete re-epithelialization, absence of bleeding per rectum with improvement of constipation, and rise of hemoglobin level from 7.5 to 11.5 g/dL.
静脉畸形是血管异常的一个主要类型。大多数病例无症状或为亚临床状态；然而，广泛的大病灶可导致严重残疾，有时甚至危及生命。在本报告中，我们介绍了一例成功使用西罗莫司治疗一名21个月大男童盆腔广泛静脉畸形的病例，该患儿出现了危及生命的并发症。自出生第2天起，该患者除了因阴囊皮肤溃疡导致慢性出血外，还反复出现严重的直肠出血，需要住院并输血（自7个月大以来发作了3次）。盆腔磁共振成像显示了广泛静脉畸形的典型表现，累及盆腔、会阴、阴囊，并延伸至臀区。可见病变完全包裹直肠肛门，其壁明显增厚，几乎闭塞管腔。开始口服西罗莫司（2mg/m²），目标血药谷浓度为5至10ng/mL。在5个月的随访期内，临床有明显改善，包括皮肤病变（阴囊溃疡）愈合，上皮完全再生，直肠不再出血，便秘改善，血红蛋白水平从7.5g/dL升至11.5g/dL。
