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小儿背部巨大脂肪纤维瘤病酷似胸段脂肪脊髓脊膜膨出:病例报告及文献复习

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

作者信息

Bachala Keerthana, Sinha Amit Kumar, Kumar Amit, Dudhani Shreyas, Shandilya Gaurav

机构信息

Department of Paediatric Surgery, AIIMS, Patna, Bihar, India.

出版信息

J Indian Assoc Pediatr Surg. 2025 Jul-Aug;30(4):532-534. doi: 10.4103/jiaps.jiaps_3_25. Epub 2025 Apr 18.

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.

摘要

脂肪纤维瘤病是一种罕见的良性软组织肿瘤,主要影响儿童。它通常表现为生长缓慢、无痛性肿块,由于其罕见性和表现多样,常被误诊。我们报告了一例不寻常的病例,一名8个月大的男性患有先天性上胸部肿块,最初怀疑是脂肪脊髓脊膜膨出。临床检查和超声支持这一诊断,但磁共振成像结果提示为软组织肿瘤。该患儿接受了切除活检,术中发现一个血管丰富、边界清晰的肿块,未累及脊髓。组织病理学分析证实为脂肪纤维瘤病。术后过程顺利,随访1年未观察到复发。该病例突出了脂肪纤维瘤病相关的诊断挑战及其误诊的可能性,以及组织病理学在确立明确诊断中的重要性。早期完整手术切除仍然是预防复发的首选治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ab1/12316414/56e31782cf87/JIAPS-30-532-g001.jpg

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