Abstract

Background: Lipofibromatosis is a relatively new entity, considered in the differential diagnosis of soft tissue tumors in children, involving mainly the extremities. Most cases can be completely resected without recurrence. Atypical forms have been described and their highly infiltrative capability can lead to severe clinical impairment. Case report: We report an infant with rapidly growing posterior cervicothoracic tumor, extending from the bulbo-medullary junction to T6 vertebra, leading to loss of spontaneous breathing, quadriparesis and devastating long-term consequences. Spinal tomography scan at 35 days suggested myelomeningocele. Prenatal and early postnatal ultrasounds were reviewed and no central nervous system involvement or fusion defects were present. Magnetic resonance at 40 days showed infiltrative mass, later confirmed by pathology as lipofibromatosis. Two resections failed to completely remove the tumor. Discussion: Lipofibromatosis can involve critical structures in the central nervous system and is difficult to treat surgically in those circumstances.

摘要

背景：脂肪纤维瘤病是一种相对较新的疾病，主要用于儿童软组织肿瘤的鉴别诊断，主要累及四肢。大多数病例可以完全切除而不会复发。已经描述了非典型形式，它们的高度浸润能力可导致严重的临床损害。案例报告：我们报告了一名患有快速生长的颈胸后部肿瘤的婴儿，肿瘤从球髓交界处延伸到 T6 椎骨，导致自主呼吸丧失、四肢瘫痪和毁灭性的长期后果。35 天时的脊柱断层扫描显示脊髓脊膜膨出。审查了产前和产后早期超声检查，未发现中枢神经系统受累或融合缺陷。40 天磁共振显示浸润性肿块，后来经病理证实为脂肪纤维瘤病。两次切除未能完全切除肿瘤。讨论：脂肪纤维瘤病可累及中枢神经系统的关键结构，在这种情况下难以通过手术治疗。