PRESENTATION OF CASE: We report the first case of Blue Rubber Bleb Nevus Syndrome in Malaysia, a 23 years old Malay girl who suffers from multiple cutaneous venous malformation and gastrointestinal bleeding episodes.
DISCUSSION: The typical morbidity for this syndrome is symptomatic anemia due to secondary iron deficiency due to the gastrointestinal venous malformation bleeding. In managing the gastrointestinal bleeding, it mainly depends on the severity of gastrointestinal bleeding, some may resolve spontaneously, while the others may be needing blood transfusion, and some may require GIT resections. As for cutaneous lesions, normally it is innocuous depending on the region and size. Large or problematic cutaneous venous malformation might benefit from sclerotherapy or excision.
CONCLUSION: Multidisciplinary approach is crucial in managing BRBNS case due to its complexity and the spectrum of multiple organ involvement to ensure the best outcome to the patient.
PRESENTATION OF CASE: With that in mind, we describe a 66-year-old man who presented with recurrent episodes of obscure gastrointestinal bleeding for two years. Video capsule endoscopy (VCE) showed several small telangiectasias in the proximal small bowel. Oral route double-balloon enteroscopy (DBE) revealed abnormal mucosa 165 cm from incisor with central ulceration and vascular component. He subsequently underwent surgical excision. The histopathological report confirmed the diagnosis of GIST arising from the jejunum. During his clinic follow up, he remains symptom-free with no evidence of recurrence.
DISCUSSION: The diagnosis of bleeding small intestine GISTs can be challenging as these are inaccessible by conventional endoscopy. Imaging modalities such as double-balloon enteroscopy, capsule endoscopy, CT angiography, intravenous contrast-enhanced multidetector row CT (MDCT) and magnetic resonance enterography (MRE) have been used to assist in the diagnosis of bleeding small intestine GISTs. The mainstay of management for small intestine GIST is complete surgical excision.
CONCLUSION: Bleeding jejunal GIST is very rare and only a handful of case reports have been published. The mainstay of management for small intestine GIST is complete surgical excision. It is essential to obtain a complete excision of localised disease and avoiding tumour spillage in order to reduce the risk of local recurrence and metastatic spread of GISTs.