Department of Neurosurgery, Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul, Republic of Korea.
Neuro-oncology Clinic, Center for Rare Cancers, National Cancer Center, Goyang, Republic of Korea.
Childs Nerv Syst. 2024 Jan;40(1):245-251. doi: 10.1007/s00381-023-06133-6. Epub 2023 Sep 1.
Fibrous hamartoma of infancy (FHI) is a rare benign soft tissue lesion of infants and young children. It usually occurs within the first 2 years of life at the superficial layer of the axilla, trunk, upper arm, and external genitalia. FHI in the central nervous system (CNS) is extremely rare. So far, only two spinal cord FHI cases have been reported. We present a case of a 1-month-old girl who presented with a skin dimple in the coccygeal area. Her MRI showed a substantial intramedullary mass in the thoracolumbar area with a sacral soft tissue mass and a track between the skin lesion to the coccygeal tip. Her normal neurological status halted immediate surgical resection. A skin lesion biopsy was first performed, revealing limited information with no malignant cells. A short-term follow-up was performed until the intramedullary mass had enlarged on the 5-month follow-up MRI. Based on the frozen biopsy result of benign to low-grade spindle cell mesenchymal tumor, subtotal resection of the mass was done, minimizing damage to the functioning neural tissue. Both the skin lesion and the intramedullary mass were diagnosed as FHI. Postoperative 5.5-year follow-up MRI revealed minimal size change of the residual mass. Despite being diagnosed with a neurogenic bladder, the patient maintained her ability to void spontaneously, managed infrequent UTIs, and continued toilet training, all while demonstrating good mobility and no motor weakness. This case is unique because the lesion resembled the secondary neurulation structures, such as the conus and the filum, along with a related congenital anomaly of the dimple.
婴儿纤维性错构瘤（fibrous hamartoma of infancy，FHI）是一种罕见的婴幼儿良性软组织病变。它通常发生在生命的头 2 年内，位于腋窝、躯干、上臂和外生殖器的浅层。中枢神经系统（central nervous system，CNS）中的 FHI 极为罕见。迄今为止，仅有两例脊髓 FHI 病例报道。我们报告了一例 1 个月大的女婴，其尾骨区有皮肤凹陷。她的 MRI 显示胸腰椎区有实质性的髓内肿块，伴有骶尾部软组织肿块和从皮肤病变到尾骨尖端的轨迹。她正常的神经状态阻止了立即进行手术切除。首先进行了皮肤病变活检，结果显示信息量有限，没有恶性细胞。进行了短期随访，直到在 5 个月的随访 MRI 上发现髓内肿块增大。根据冷冻活检结果为良性至低度梭形细胞间叶肿瘤，对肿块进行了次全切除，最大限度地减少对功能神经组织的损伤。皮肤病变和髓内肿块均被诊断为 FHI。术后 5.5 年的 MRI 随访显示残余肿块的大小变化极小。尽管被诊断为神经性膀胱，但患者仍能自主排尿，很少发生尿路感染，并继续进行如厕训练，同时表现出良好的活动能力，无运动无力。该病例的独特之处在于病变类似于继发性神经发生结构，如圆锥和终丝，以及相关的凹陷先天性异常。
