gms | German Medical Science

We present an 8 year old boy with bilateral conductive hearing loss and a pronounced stenosis of the left bony external auditory canal. CT scan of the temporal bone demonstrated a left side space occupying cystic mass. The diagnostic tympanoscopy showed a diffusely bleeding spongy tumor which was grown like a balloon in the tympanic cavity. Histological examination showed dilated vascular cavities which were lined with fibrotic connective tissue stroma. The whole-body CT scan and MRI showed multiple intramedullary osteolytic lesions (left petrous bone, right 4th rib, dorsal surface of the sacrum, left ilium, left proximal femoral metaphysis, ventral surface of the right femoral neck, middle third of the right fibula, 3^rd neck vertebral body, 7^th neck vertebral body, 1^st thoracic vertebral body, total lumbal vertebral bodies). The bone marrow aspiration and biopsy showed normocellular hematopoietic bone marrow without evidence of cell maturation disorders or osteolysis and revealed no increase in the blasts, histiocytes or macrophages. These findings argued against a Langerhans cell histiocytosis and its differential diagnosis of angiomatosis. Because of the bone destruction and its replacement by lymphoid tissue we thought about a Gorham-Stout syndrome.

Since the incidence of this syndrome is rare (so far there have been reported only about 200 cases in the literature), there is no general evidence based treatment concept available. As treatment options the application of bisphosphonates, interferon-α2b, angiogenesis inhibitors, radiation and/or chemotherapy as well as surgery (e.g. pleurodesis in the case of chylothorax) were described. In the present case we decided only to follow the child clinically and by control MRI every 3 months. During the first year after the diagnosis there was no change observed in clinical as well as radiological findings.