PubMed · 15414564
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H BON. 1950-04-22. [Ptoses].. https://pubmed.ncbi.nlm.nih.gov/15414564/
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We report the case of a 2-year-old boy suffering from juvenile hyaline fibromatosis. Our patient had all the main clinical features of the disease, i.e. multiple cutaneous facial nodules, gingival fibromatosis and osteolytic lesions in the proximal metaphysis of the tibia and humerus symmetrically. However, he also presented an eyelid tumour scalloping the superior orbital osseous rim, causing blepharoptosis. The histopathology confirmed this very rare condition. After 6 months, our patient has improved functionally and cosmetically following surgical resection of the eyelid tumours without recurrence.
PRECIS: A 12-year-old female presented with symptoms and signs of orbital apex syndrome (OAS), secondary to stage IV alveolar rhabdomyosarcoma (RMS) originating in the sphenoid and ethmoid sinuses. OBJECTIVE: To present a case of alveolar rhabdomyosarcoma, unusual in its presentation as orbital apex syndrome and also its origin from the sphenoid and ethmoid sinuses. DESIGN: : Observational case report. METHODS: Ophthalmologic findings, neuroimaging, medical and surgical intervention, histopathologic analysis, and clinical course are described. RESULTS: A 12-year-old female presented with progressive visual loss in her left eye, difficulty with eye movements, and mild headache. Her examination was consistent with orbital apex syndrome. Imaging with contrast revealed a mass originating in the left sphenoid and ethmoid sinuses invading the left optic canal. Emergent biopsy was interpreted as alveolar rhabdomyosarcoma; subsequent metastatic work-up revealed bone marrow metastases. The patient was diagnosed with stage IV alveolar rhabdomyosarcoma and immediately started on combination orbital radiation therapy (RT) and systemic chemotherapy. She experienced gradual improvement of ocular motility, though her optic neuropathy persisted. CONCLUSION: Alveolar rhabdomyosarcoma of paranasal origin, specifically from the sphenoid and ethmoid sinuses, should be included in the differential diagnosis for orbital apex syndrome in children.
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