Discussion
Diagnosis With Brief Discussion
- Diagnosis
- Lymphangiomatosis and Gorham’s disease
- Radiologic Findings
- • Chest radiograph (Fig. 1) shows multiple expansile osteolytic lesions with sclerotic margin at posterior arc of right 5th, 6th 8th , left 3rd and 4th ribs, which suggests differential diagnosis such as fibrodysplasia or osteolytic bone metastasis. Also, the left paratracheal stripe is widened, possibly due to space occupying lesions such as left paratracheal lymphadenopathy or mediastinal mass. There is no evidence of abnormal parenchymal lesions in both lungs. Chest CT scan (Fig. 2) reveals multiple expansile osteolytic lesions in right 8th , left 3rd and 4th ribs, (Fig. 3) a low density non-enhancing cystic mass in the posterior mediastinum, and (Fig. 4) multiple small low density cystic lesions in the spleen. These findings are compatible with lymphangiomatosis, presenting as cystic lymphangioma of the posterior mediastinum and lymphangiomatosis of spleen, with additional diagnosis of Gorham’s disease due to the bony involvement.
- Brief Review
- • Lymphangiomatosis is a rare disorder with poorly understood etiology characterized by proliferation of the lymphatic vessels. Various different sites may be involved such as the dermis, soft tissues, bone and viscera.
• Bony involvement of the lymphangiomatosis may give an additional differential diagnosis of Gorham’s disease. These two conditions are understood as a spectrum of the lymphangiomatosis process, rather than a separate disease entity.
• Due to the non-malignant proliferation of vascular or lymphatic vessels within the bone, Gorham’s disease leads to resorption and replacement of the involved bone by fibrovascular connective tissue. Thus, it is also known as idiopathic massive osteolysis, phantom bone disease or disappearing bone disease.
• Gorham’s disease may occur at any age, but is most frequently recognized in children and young adults, with no sex predilection or inheritance pattern. The clinical presentation may be variable, depending on the site of involvement, but usually involves pain, fracture and extremity weakness. Radiological investigation is needed for initial diagnosis, continued management and long-term follow-up.
• Bone lesions in Gorham’s disease occurs in majority of patients and usually involves maxillofacial, upper extremity and trunk. First, it appears as an intramedullary and subcortical radiolucent foci which eventually leads to concentric shrinkage and tapering in tubular bones. More progressed disease shows cortical erosion along with local invasion of angiomatous mass into the adjacent soft tissue, which results in disappearance of remaining bone and progression of osteolytic process to multiple contiguous bones.
• Bone involvement in Gorham’s disease should be differentiated with local or systemic conditions associated with bone and cartilage destruction, such as metastatic tumor, hyper-parathyroidism, gout or pseudarthrosis.
• Thoracic involvement of the Gorham’s disease includes widespread involvement of the skeleton, lymphangioma, chylothorax and rarely, lung parenchymal abnormalities such as diffuse interstitial marking or edema.
• Chylothorax is due to invasion of the thoracic duct or penetration of the pleural cavity by dysplastic lymphatic vessels. It may be recurrent and even fatal when bilateral.
• Mediastinal lymphangioma associated with Gorham’s disease is rare, but may appear as a well-defined, homogenously low attenuated mass with no mass effect.
- References
- • Jannette C. Case 92: Gorham Syndrome. Radiology 2006; 238:1066–1069
• Yoo SY, Goo JM, Im JG. Mediastinal Lymphangioma and Chylothorax: Thoracic Involvement of Gorham’s Disease. Korean J Radiol 2002;3:130-132
• Kotecha R, Mascarenhas L, Jackson HA, Venkatramani R. Radiological features of Gorham’s disease. Clinical Radiology 67 2012;782-788
• Gordon KD., Mortimer PS. Progressive Lymphangiomatosis and Gorham’s disease: Case report and Clinical implications. Lymphatic research and biology 2011;9:201-204
- Keywords
- Mediastinum, Multiple organ, Congenital, Vascular malformation,