1UOC di Pediatria e Neonatologia, Presidio Ospedaliero di Ravenna; 2UOC di Chirurgia Pediatrica, Presidio Ospedaliero di Rimini, AUSL della Romagna
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Key words: Sideropoenic anaemia, Gastrointestinal bleeding, Diagnosis, Case report, Blue rubber bleb nevus syndrome
The paper describes the case of a 14-year-old girl who presented with relapsing chronic anaemia without initial evidence of gastrointestinal bleeding after performing EGDS, colonoscopy, scintigraphy with technetium and marked red blood cell, and endoscopy with videocapsule. At the age of 11 months, due to the presence of a highly visible vascular malformation at the level of the tibia, the girl underwent the first surgical resection. Other surgical resections of some vascular lesions of a finger of her right hand and of her left foot were performed when she was 5 and 7 years old, respectively. The physical examination revealed some small blue-blackish marks on her forehead and left forearm. The laparoscopy showed the presence of two small angiomatous vascular malformations at the level of the ileum. The final diagnosis is Blue rubber bleb nevus syndrome (BRBNS). BRBNS is a rare disease characterized by multiple venous malformations and haemangiomas in the skin and visceral organs. The lesions often involve the cutaneous and gastrointestinal systems. Other organs can also be involved, such as the central nervous system. The most common symptoms are gastrointestinal bleeding and secondary iron deficiency anaemia. The Authors summarize the possible causes of sideropoenic anaemias due to gastrointestinal bleeding and possible limits of the investigation techniques that support the diagnosis, such as endoscopic videocapsule and scintigraphy.
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