ABSTRACT
Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multifocal venous malformations that can affect any organ or tissue. Kasabach-Merritt phenomenon (KMP) is a serious and extremely rare complication of BRBNS. This report describes a neonate with BRBNS with KMP who was successfully diagnosed and treated with low-dose sirolimus and glucocorticoids. A 13-day-old female infant was born with multiple tumors on her head, neck, shoulder, back, abdomen, limbs, perineum, etc. some of which were blue. Laboratory examinations showed thrombocytopenia, anemia and coagulopathy. BRBNS with KMP was diagnosed. Oral low-dose sirolimus combined with glucocorticoids was administered. After 6 months of regular follow-up, the lesions in the child were significantly decreased, and there were no signs of KMP recurrence. The presence of KMP should be considered in patients diagnosed with BRBNS who present with thrombocytopenia, anemia and coagulopathy. Sirolimus combined with glucocorticoid therapy can be administered to save the patient's life.
ABSTRACT
Gastrointestinal schwannoma is a rare, slow-growing and benign tumor that mostly originates in the Auerbach myenteric nerve plexus in the gastrointestinal tract. The clinical manifestations may be associated with the location, size, differentiation type, and degree of malignancy of the tumor. Endoscopy, ultrasound and imaging examinations serve an important auxiliary role in the clinical identification, diagnosis and differential diagnosis of lesions; assessment of risk; and preparation for surgery. S-100 positivity is a hallmark of schwannoma. CD34, CD117, discovered on GIST-1, P53, ALK, ß-catenin, smooth muscle actin and Desmin negativity are helpful for the identification of other gastrointestinal stromal tumors. Surgical removal of the tumor is the main treatment for schwannoma. Benign gastrointestinal schwannoma has a good prognosis without recurrence and metastasis; malignant transformation is extremely rare and has a poor prognosis.