Esthesioneuroblastoma in Maffucci's syndrome

• Published in: Skeletal radiology 2004-10, Vol.33 (10), p.609-612
• Main Authors: KURIAN, Sobha, ERTAN, Esmer, DUCATMAN, Barbara, CROWELL, Edward B, RASSEKH, Christopher
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Diseases of the osteoarticular system; Enchondromatosis - complications; Esthesioneuroblastoma, Olfactory - diagnosis; Fatal Outcome; Humans; Investigative techniques, diagnostic techniques (general aspects); Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Maxillary Sinus Neoplasms - diagnosis; Medical sciences; Medical treatment; Nasal Cavity - pathology; Neoplasm Recurrence, Local - pathology; Nose; Nose Neoplasms - diagnosis; Orbital Neoplasms - diagnosis; Traumas. Diseases due to physical agents
• ISSN: 0364-2348; 1432-2161
• DOI: 10.1007/s00256-004-0802-x

Maffucci's syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. We report a case of a 33-year-old man with Maffucci's syndrome who presented with a several month history of nasal congestion, facial pain, and diminished vision in his left eye. Radiological studies showed a large soft tissue mass centered in the sinonasal area, extending bilaterally into maxillary sinuses and orbits with compression of left optic nerve. Biopsy of the mass showed esthesioneuroblastoma (olfactory neuroblastoma). Chemotherapy resulted in initial improvement, but the tumor recurred and did not respond to further treatment, resulting in his death. Sarcomatous tumors are reported in Maffucci's syndrome, but this is a rare case of a neuroendocrine tumor in a patient with Maffucci's syndrome.