Diffuse lymphangiomatosis-A fatal case with atypical skeletal features

Diffuse lymphangiomatosis is a rare idiopathic condition that occurs mostly in children, is characterized by a non-neoplastic proliferation of lymphatic vessels, leading to organ dysfunction, chylous effusions, and death. A closely related condition-the Gorham-Stout syndrome-is also characterized by lymphangiomatosis and chylous effusions, but also with massive osteolytic changes ("vanishing bone disease"). A 33-year-old woman presented with a 5-year history of worsening chylous effusions and organomegaly. An extensive evaluation has ruled out most diagnoses. A complete radiographic skeletal study did not disclose any osteolytic changes. However, a Tc99 bone scan has demonstrated an absence of osteoblastic activity in some bones. An autopsy confirmed the diagnosis of diffuse lymphangiomatosis, but with histologically normal bone. If this unusual imaging pattern will be reproduced in future cases, a much needed diagnostic aid may help decrease the frequent diagnostic delays in diffuse lymphangiomatosis.