El Merkabaoui Haya, El Hachem Tarek, Greige George, Layoun Charlie Joe, Makkawi Kareem, Ibrahim Amir
Department of Plastic and Reconstructive Surgery, American University of Beirut Medical Center, Beirut, Lebanon.
Department of Medicine, American University of Beirut, Beirut, Lebanon.
Int J Surg Case Rep. 2025 Jun;131:111372. doi: 10.1016/j.ijscr.2025.111372. Epub 2025 Apr 25.
Rhabdoid tumors (RT) are rare, aggressive malignancies, primarily affecting infants and typically found in the central nervous system, kidneys, or soft tissues, with rare occurrences in the head and neck. These tumors are associated with poor prognosis due to late-stage diagnosis. This case report presents a rare occurrence of a rhabdoid tumor in the forehead, with disseminated disease, highlighting the importance of considering RT in the differential diagnosis for forehead masses to improve outcomes.
We report the case of an infant initially misdiagnosed with a congenital hemangioma, later found to have disseminated malignant rhabdoid tumors (MRTs). Despite the clinical and imaging features suggesting a vascular origin, the persistence of atypical characteristics led to a high suspicion for alternative diagnoses. A collaborative clinical team confirmed MRT after further investigation.
Diagnosing MRTs is challenging when they resemble common conditions, such as vascular tumors. In this case, the misdiagnosis as a congenital hemangioma was corrected due to the clinical team's persistence and awareness of atypical features. MRTs are characterized by rapid progression and dissemination, making early detection crucial for effective management.
This case underscores the need for heightened suspicion of rare malignancies, especially with unusual clinical and imaging presentations. Early diagnosis and a collaborative clinical approach are essential for initiating timely treatment and improving patient outcomes. Maintaining a broad differential diagnosis is vital, particularly in cases of disseminated MRTs, to ensure proper management and better prognosis.
横纹肌样瘤(RT)是一种罕见的侵袭性恶性肿瘤,主要影响婴儿,通常发生在中枢神经系统、肾脏或软组织中,头颈部罕见。由于诊断较晚,这些肿瘤的预后较差。本病例报告展示了一例罕见的前额横纹肌样瘤伴播散性疾病,强调了在鉴别诊断前额肿块时考虑RT以改善预后的重要性。
我们报告了一例婴儿,最初被误诊为先天性血管瘤,后来发现患有播散性恶性横纹肌样瘤(MRT)。尽管临床和影像学特征提示血管起源,但非典型特征的持续存在导致高度怀疑其他诊断。经过进一步调查,一个协作的临床团队确诊为MRT。
当MRT类似于常见疾病,如血管肿瘤时,诊断具有挑战性。在本病例中,由于临床团队对非典型特征的坚持和认识,将其误诊为先天性血管瘤的情况得以纠正。MRT的特点是进展迅速和播散,因此早期检测对于有效管理至关重要。
本病例强调了对罕见恶性肿瘤提高警惕的必要性,特别是对于具有不寻常临床和影像学表现的情况。早期诊断和协作的临床方法对于及时开始治疗和改善患者预后至关重要。保持广泛的鉴别诊断至关重要,特别是在播散性MRT的病例中,以确保适当的管理和更好的预后。