Giant Lipofibromatosis Over Back Mimicking Thoracic Lipomyelomeningocele in Paediatric Age Group: Case Report and Review of Literature

Abstract

Lipofibromatosis is a rare and benign soft-tissue tumor predominantly affecting children. It commonly presents as a slow-growing, painless mass, often misdiagnosed due to its rarity and variable presentation. We report the unusual case of an 8-month-old male with a congenital upper thoracic mass initially suspected to be a lipomyelomeningocele. Clinical examination and ultrasound supported this diagnosis, but magnetic resonance imaging findings suggested a soft-tissue tumor. The child underwent excisional biopsy, and intraoperative findings revealed a highly vascular, well-defined mass without spinal cord involvement. Histopathological analysis confirmed lipofibromatosis. The postoperative course was uneventful, and no recurrence was observed after 1 year of follow-up. This case highlights the diagnostic challenges associated with lipofibromatosis and its potential for misdiagnosis, and the importance of histopathology in establishing a definitive diagnosis. Early complete surgical excision remains the preferred treatment to prevent recurrence.

Keywords: Lipofibromatosis; liposarcoma; pediatric; soft-tissue mass.

Figure 1

Clinical image

Figure 2

(a and b) Sagittal view and axial view of magnetic resonance imaging showing homogenous mass

Figure 3

(a and b) Intraoperative image and postoperative excised specimen