Blue rubber bleb nevus syndrome with CNS involvement

We report a child with Blue Rubber Bleb Nevus Syndrome (BRBNS) and marked CNS-involvement and complex neurological impairment. Computed tomography showed intracerebral calcification and vascular malformations. The patient is microcephalic, his psychomotor development is delayed and he has a deficit of motor coordination and visual function. We know of only one report of a child with BRBNS and such CNS involvement.     

Blue rubber bleb nevus syndrome

Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare condition characterized by multiple venous malformations involving the skin and internal organs. The gastrointestinal tract is always involved and intestinal haemorrhage is the most frequent clinical manifestation associated with iron deficiency anaemia. We describe a 10‐year‐old girl who, since birth, presented numerous venous malformations all over her body and a lymphangioma in the right leg. At the age of 5 years, she also had a severe episode of gastric bleeding requiring a blood transfusion. From this episode, she is suffering from chronic anaemia and this is the reason for admission into our hospital. The endoscopic examination of the gastrointestinal tract revealed multiple giant venous malformations in the oesophagus, stomach, duodenum and in all visible sections of the colon. Endoscopy is the gold standard technique for the diagnosis of BRBNS with GI lesions and also allows immediate therapeutic measures such as argon plasma coagulation, laser photocoagulation, sclerotherapy or band ligation. In addition, pharmacological treatments based on corticosteroids, interferon alfa, vincristine or octreotide have been described for BRBNS. Conclusion: Blue Rubber Bleb Nevus Syndrome is a congenital cutaneous and gastrointestinal haemangiomatosis. Its morbidity and mortality depends on involvement of visceral organs and particularly on GI bleeding. The treatment is based on pharmacological or surgical therapy. Overall, the most important step is the follow‐up to the presence and the evolution of GI lesions and the possible bleeding.     

Blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome is a rare disorder characterized by distinctive cutaneous and gastrointestinal venous malformations that usually cause massive or occult gastrointestinal hemorrhage and iron deficiency anemia secondary to the bleeding episodes. It is even a rare cause of gastrointestinal hemorrhage during childhood. We describe a 6-year-old boy who had multiple venous malformations all over his body. He also suffered from several episodes of melena, chronic anemia, and growth retardation. The endoscopic examination of the gastrointestinal tract revealed multiple bluish-black sessile and polypoid venous malformations in various sizes. It was possible to remove the largest venous malformations causing massive bleeding during colonoscopy.     

Blue rubber bleb nevus syndrome with knee joint disorder

Blue rubber bleb nevus syndrome (BRBNS) involves cutaneous vascular malformation characterized by multiple venous malformations. This commonly affects the skin and gastrointestinal tract. BRBNS is associated with anemia and occasionally involves orthopedic manifestations. A 6‐year‐old boy was referred to hospital for evaluation of anemia. He presented with a rubber‐like soft‐tissue mass in the left knee and the right side of the neck, recurrent pain, and fixed flexion contracture of the knee. Blood examination indicated consumption coagulopathy and anemia caused by not only iron‐deficiency anemia but also microangiopathy. Endoscopy of the gastrointestinal tract indicated multiple bluish‐black sessile venous malformations. Ultrasonography and magnetic resonance imaging of the knee showed intra‐articular and intramuscular involvement. Based on these findings, BRBNS with knee joint disorder was diagnosed. With regard to vascular malformations, like other diseases such as inflammatory arthropathy, ultrasonography of the joint may become a new diagnostic approach for evaluating orthopedic manifestations.     

Blue rubber bleb nevus syndrome: successful treatment with sirolimus

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder with characteristic vascular malformations of the skin, gastrointestinal system, and, less often, other organ systems. The characteristic cutaneous lesions consist of deep-blue, soft, rubbery blebs, which are easily compressible. The most serious complication is abundant gastrointestinal bleeding. We describe the case of an 8-year-old girl with diagnosed BRBNS who had multiple venous malformations all over her body, importantly, throughout the gastrointestinal tract, mouth, esophagus, stomach, small bowel, and colon. She presented with recurrent massive gastrointestinal bleeding and soft tissue hematoma despite prednisolone and α-interferon therapy. We started low-dose sirolimus as an antiangiogenic agent. The vascular masses were reduced rapidly and there was no gastrointestinal bleeding and muscular hematoma after sirolimus therapy. There was no drug adverse reaction at 20-month follow-up. To the best of our knowledge, this is the first report related to the use of sirolimus in a patient with BRBNS.     

Blue rubber bleb nevus syndrome: Promising response to sirolimus

Background

Blue rubber bleb nevus syndrome is a rare disease involving venous malformations.

Case characteristics

We present a 6-year-old female with the syndrome, and consumptive coagulopathy.

Intervention/Outcome

After management with sirolimus, symptoms resolved.

Message

Sirolimus may be a valuable option for reducing bleeding complications and cosmetic sequelae for the patients with this syndrome.

     

A new approach to blue rubber bleb nevus syndrome: the role of capsule endoscopy and intra-operative enteroscopy

Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, even fatal bleeding and anemia. The syndrome is considered to be autosomaly predominantly inherited. Intra-operative enteroscopy (IOE) is the best method of identification of all lesions (particularly the small ones, less than 3 mm) and treatment by endoscopic electro-coagulation or surgical excision. Capsule wireless endoscopy is optimal for screening before the IOE and for monitoring the effect of therapy (in patients with BRBNS). We report two cases of BRBNS. Anemia, gastrointestinal bleeding, gastrointestinal malformations and multifocal venous malformations of the skin were present in both of our cases. Gastrointestinal lesions were identified by gastroscopy, colonoscopy and capsule endoscopy. The multiple venous malformations were treated partly by endoscopic electro-coagulation (lesions up to 4 mm in diameter) and by wedge resection. Both of our patients were 12-year-old girls at the time of operation. In the first patient 31 venous malformations of the small bowel were coagulated, two were resected by the surgeon. In the second patient 20 lesions were coagulated endoscopically and another 31 nevi were resected during an 8 h procedure. The first girl is doing fine 4 years after the procedure, the second was allowed home 2 weeks after the procedure in excellent condition. IOE is a unique method of small bowel investigation and concurrently provides a solution for pathological findings. Capsule endoscopy is a feasible non-invasive screening procedure. We believe that a radical eliminatory approach by means of combined surgery and IOE is indicated for the BRBNS to prevent ongoing gastrointestinal bleeding.     

Blue rubber bleb nevus: an uncommon cause of intestinal intussusception

The blue rubber bleb nevus syndrome or Bean syndrome is a rare disorder characterized by cutaneous and gastrointestinal vascular malformations. A 5-year-old girl with Bean syndrome hospitalized in a pediatric unit came under our observation with abdominal pain and vomiting. An X-ray of the abdomen showed an intestinal occlusion and an ultrasonography showed a suspected intestinal invagination. She underwent emergency laparoscopic surgery using three trocars. Laparoscopy revealed a huge ascitis and multiple vascular lesions located on the loops and on the parietal peritoneum, and we identified also an ileo-ileal invagination. We performed a laparoscopic disinvagination that showed one huge vascular lesion producing the invagination and causing a stenosis of intestinal lumen. We performed an intestinal resection after exteriorizing the loops through the umbilicus as well as a termino-terminal ileal anastomosis. Conclusions: Our case shows that an intestinal invagination due to Bean syndrome is extremely rare in pediatric patients but possible. In the emergency, laparoscopy seems to be a safe and effective procedure to confirm the diagnosis and to perform the disinvagination mini-invasivally. In addition, laparoscopy permits to have a clear picture of other intra-abdominal lesions linked to Bean syndrome.     

Gastrointestinal bleeding and paraparesis in blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome (BRBNS), which consists of cutaneous and visceral hemangiomas, is a rare disease. Complications such as gastrointestinal (GI) bleeding, anemia and coagulopathy have been documented. We report a patient with BRBNS who presented with acute paraparesis in addition to GI bleeding and coagulopathy.     

Diagnosis and treatment of blue rubber bleb nevus syndrome in children

Background  Blue rubber bleb nevus syndrome (BRBNS) is characterized by distinctive vascular malformations of skin and the gastrointestinal tract, often leading to chronic anemia and intestinal bleeding. It usually presents right after birth or during early infancy. Though the disease is inherent, its occurrence is sporadic. Thus it is usually not timely diagnosed. We analyzed the clinical characteristics and treatment of this disorder in order to improve the diagnosis and treatment. Methods  Three patients with BRBNS treated at our hospital during 2002–2003 and 39 patients from the literature reported during 1965–2003 were reviewed in terms of the diagnosis and treatment. BRBNS may be diagnosed as cutaneous cavernous hemangioma associated with the same lesion of the gastrointestinal tract and other organs. Results  Our 3 patients suffered from cutaneous angioma and gastrointestinal hemangioma. In 39 patients reported in the literature, cutaneous angioma was observed in all of them, and gastrointestinal hemangioma in 31. Additionally, the lesions were also found in other organs such as the brain (7 patients), joint (2), liver (2), eye (1), kidney (1) and spleen (1). Cutaneous angioma was located on the surface of the skin, including body (93%), limbs (86%), hip (36%) and face (26%). Gastrointestinal hemangioma was more common in the small intestine (100%) than in the colon (74%) and stomach (26%). When the joint was involved by hemangioma, pathologic fracture or overgrowth of bone needed traction and amputation (1 patient respectively). For significant gastrointestinal bleeding, endoscopic techniques (8 patients), surgical excision (5), or both (1) were performed. Recurrent bleeding was successfully treated by endoscopic laser combined with steroid or interferon in one patient. Conclusions  BRBNS in children presents atypical symptom and systemic complications. It should be dealt with seriously if gastrointestinal bleeding or orthopedic complication occurs. Treatment includes conservative, endoscopic and surgical options. Its recurrence with new angioma in the gastrointestinal tract needs laser-steroid therapy.     

Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome

Jejunal intussusception in a Chinese 10-year-old boy affected by the blue rubber bleb nevus syndrome is presented and discussed. The syndrome is rare, sporadically found with possible dominant inheritance, and due to a gene mutation mapped on the short arm of chromosome 9. It presents with distinctive cutaneous and gastrointestinal malformations together with possible other organ involvement. Gastrointestinal malformations tend to bleed and lead to anaemia. Infrequent complications of the gastrointestinal malformations are volvulus, intestinal infarction and intussusception. The age of the patient and the jejunal intussusception precipitated by a vascular malformation containing calcifications (which were also found in different gut segments) make this case remarkable.     

胶囊内镜诊断多处肠内病变的儿童蓝色橡皮泡痣综合征1例

蓝色橡皮泡痣综合征(blue rubber bleb nevussyndrome,BRBNS)是一种罕见的疾病,其特征是皮肤和胃肠道多发性静脉畸形,典型的皮肤损伤由易压缩的深蓝色橡胶泡组成[1-2]。胃肠道病变容易引起出血,导致缺铁性贫血[3]。凡有特殊皮肤表现如蓝色斑及消化道出血者均应想到本病。胶囊内镜是诊断疑似小肠出血疾病的重要手段。昆明医科大学第一附属医院儿科于2019年4月收治1例BRBNS患儿,现报道如下。     

小儿蓝色橡皮疱痣综合征三例报道及文献分析

蓝色橡皮疱痣综合征（blue rubber bleb nevus syndrome,BRBNS）是一种以皮肤和内脏等多处海绵状血管瘤为主要表现的临床综合征。在小儿至成人各年龄阶段均可发病。在小儿,特别是婴幼儿往往仅表现皮肤病变,缺乏特异症状和体征,由于人们对该病认识不足,因而常常延误诊断和治疗,以致于到青少年、乃至成人出现严重并发症才得到重视。2003年9—10月,我院收治3例BRBNS,现结合检索到有完整病史的39例国外病例,分析如下。     

A kindred with Griscelli disease: Spectrum of neurological involvement

We report four members of a highly consanguineous family with silver-grey pigmentation of hair, two of whom had skin histology compatible with Griscelli disease. Unlike previously reported patients, they did not suffer from recurrent infections. In addition, there was a spectrum of neurological involvement varying from mild cognitive delay with a convulsive disorder in one patient, to a fatal degenerative course in three others. One patient developed a prolonged febrile illness with histological evidence of florid lymphoid hyperplasia.     

累及神经系统手足口病患儿临床特征及危重症危险因素分析

目的 探讨重症和危重症手足口病患儿典型的临床体征和辅助检查指标,丰富卫生部《手足口病诊疗指南》（2008年版）的内容。方法 以2008年5～12月在广州市妇女儿童医疗中心儿童医院住院治疗的累及神经系统手足口病重症和危重症患儿为研究对象。对临床特征和辅助检查结果进行汇总分析,比较重症组和危重症组神经、呼吸和循环系统表现,以及辅助检查结果的差异,Logistic回归分析重症进展为危重症的危险因素。结果 142例患儿进入分析,其中男88例,女54例;<3岁110例（77.5％）。重症组75例,危重症组67例。①高热82例(57.7％),热程(5.68±3.19) d;典型皮疹88例（62.0％）;②神经系统主要表现：肢体震颤107例(75.4%)、精神差93例(65.5%)、烦躁86例(60.6%)、双膝反射活跃或亢进79例(55.6%)、惊跳78例(54.9%)、呕吐73例(51.4%);③循环和呼吸系统主要表现：心率增快35例(24.6%)、CRT 3~5 s 34例(23.9%)、呼吸浅快31例(21.8%)、呼吸节律不规则29例(20.4%)、血压升高21例(14.8%)、CRT>5 s 19例(13.4%)、肺出血9例(6.3%);④辅助检查：WBC>12×109·L-1 55例(38.7%)、血糖升高90例(63.4%)、胸部X线片提示肺部渗出性病变36例(25.4%);⑤危重症组颈抵抗、肌张力增高或减低、抽搐、肢体无力、眼球运动异常、心率增快、血压升高、CRT 3~5 s或>5 s、呼吸浅快、呼吸节律不规则和肺部渗出性病变发生率均显著高于重症组;⑥多因素Logistic回归分析显示,心率增快（OR=17.918,95%CI:4.634~69.284）、CRT>5 s(OR=8.985, 95%CI: 1.568~51.488)、颈抵抗(OR=8.467,95%CI: 1.964~36.513)和肺部渗出性病变(OR=7.692, 95%CI:2.345~25.235)是重症患儿进展为危重症的危险因素;⑦治疗和预后：6例死亡,136例治愈或好转出院,随访6～12个月,未发现明显的智力落后、继发性癫及肢体瘫痪。结论 肢体震颤、精神差、烦躁、惊跳、呕吐及膝反射活跃或亢进是神经系统病变的早期症状和体征;心率增快、CRT>5 s、颈抵抗及肺部渗出性病变是手足口病重症患儿进展为危重症的高危因素。