'Spontaneous' periocular hemorrhage and macrohematuria

PURPOSE: To report on a 19-year-old man with 'spontaneous' periocular hemorrhage and macrohematuria as the first signs of a bone-marrow-infiltrating rhabdomyosarcoma of the left superior rectus muscle. PROCEDURES: Clinical eye examination, magnetic resonance imaging, laboratory workup and bone marrow biopsy were performed. RESULTS: Magnetic resonance imaging showed a mass lesion in the left superior rectus muscle. While funduscopy had initially been normal, optic disc swelling, retinal hemorrhage and vitreous cell infiltration could be seen in the further course of disease. Laboratory work-up showed macrohematuria, thrombocytopenia and decreased concentration levels of plasma fibrinogen. Thromboplastin time was decreased. A bone marrow biopsy revealed small cell infiltration; using immunohistochemistry, a rhabdomyosarcoma was diagnosed. Unfortunately, the patient died few months later, in spite of chemotherapy. CONCLUSION: 'Spontaneous' periocular hemorrhage and macrohematuria were the first signs of a bone-marrow-infiltrating rhabdomyosarcoma in this young and otherwise healthy patient.