ABSTRACT
A 2-year-old female patient with a recent history of head trauma was admitted to the Ophthalmology Clinic with left exophthalmos. A differential diagnosis between traumatic and tumoral etiology was made. The orbitocranial MRI and fine needle ganglion biopsy settled the malignant etiology of the exophthalmia. Further investigations at the Pediatric Oncology Clinic decided on the diagnosis of orbital metastatic neuroblastoma. This case report presented an unusual association: orbital metastatic neuroblastoma becoming clinically positive soon after a head trauma.
Subject(s)
Abdominal Neoplasms/pathology , Brain Injuries/diagnosis , Exophthalmos/diagnosis , Neuroblastoma/secondary , Orbital Neoplasms/secondary , Abdominal Neoplasms/diagnostic imaging , Abdominal Neoplasms/drug therapy , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Biopsy, Fine-Needle , Child, Preschool , Diagnosis, Differential , Fatal Outcome , Female , Humans , Magnetic Resonance Imaging , Neuroblastoma/diagnostic imaging , Neuroblastoma/drug therapy , Orbital Neoplasms/diagnostic imaging , Orbital Neoplasms/drug therapy , Tomography, X-Ray ComputedABSTRACT
Breast myofibroblastomas are rare benign mesenchymal tumors belonging to the group of stromal breast tumors composed of spindle-shaped cells and characterized by a broad morphologic spectrum. Among the different morphologic variants described, breast MFBs can show smooth muscle cell differentiation in very rare cases. In terms of the genetic abnormalities found in this type of tumor, a deletion of chromosome 13q14 was recently confirmed by FISH in some cases of mammary MFB. In this paper, we report an unusual case of MFB with smooth muscle differentiation showing a deletion of chromosome 13q14.
