A Rare Case of a Newborn with Multiples Red-brown Macules and Thrombocytopenia: A Case Report

Case of a term baby girl with physical exam revealed a non-blanching hemangioma in the face, hemorrhagic lesions in oral mucosa, hepatomegaly and splenomegaly and caput medusa. Icteric skin color with multiples: round, raised bright red through the body and multiples small macule dark red lesions. She had thrombocytopenia, moderate anemia and prolonged Prothrombin time with low fibrinogen with no evidence of disseminated intravascular coagulation. Abdominal MRI done showing a large, infiltrative, heterogeneous mass throughout the intraabdominal compartment. A skin biopsy revealed enlarged vascular channels with endothelial hyperplasia and pseudo papillary intraluminal projections. CD31, CD34, and SMA were positive and GLUT-1 and D2-40 were negative. Given the aggressive nature and clinical picture complicated with Kassabach Merritt phenomenon with two biopsies negative for GLUT-1 multifocal infantile hemangioma was ruled out and the diagnosis of Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) was confirmed. Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT), was recently identified as a congenital multifocal vascular disorder. Characterized by multifocal cutaneous vascular lesions negative for glucose transporter 1 (GLUT-1), and features thrombocytopenia and extracutaneous disease but mostly severe gastrointestinal involvement. MLT on histopathologic shows enlarged vascular channels with endothelial hyperplasia and pseudopapillary intraluminal projections as seen in the second skin biopsy performed in our patient. Our patient was treated with Propranolol , corticosteroids and Sirolimus. Given the rarity of this diagnosis there are no established treatments. The patient initially showed some improvement after starting Sirolimus requiring less transfusions and some of the lesions seem shrinking in size. But after all efforts she develops gastrointestinal bleeding that caused her hypovolemic shock and death. Because MLT is a recently described and rare condition, all facets of the disease are still unknown, and a treatment strategy remains to be established. The prognosis is grim, with high mortality often linked to gastrointestinal bleeding and unsatisfactory treatment.