Donovan Daniel J, Smith Alice B, Petermann Gregory W
Department of Surgery, Neurosurgery Service, Tripler Army Medical Center, Honolulu, Hawaii 96859-5000, USA.
Pediatr Neurosurg. 2006;42(3):187-92. doi: 10.1159/000091866.
Atypical teratoid/rhabdoid tumors (ATRT) of infancy are highly malignant neoplasms that are most common in the first 2 years of life. We present the case of a 3-month-old girl who presented with the acute onset of generalized seizures and was found to have a large spontaneous intraventricular hemorrhage. The blood masked an underlying ATRT of the velum interpositum in the midline of the lateral ventricles and roof of the third ventricle, the first reported case in this location. Serial imaging studies and two ventriculoscopic biopsies were required to establish the diagnosis of the tumor in this unique location and in the midst of an evolving hematoma. After surgical resection, the patient received adjuvant chemotherapy. At 4-year follow-up, the child is neurologically intact, meeting normal developmental milestones, and imaging studies show no evidence of tumor. ATRT were previously associated with an extremely poor prognosis, but more recent evidence with complete surgical resection and adjuvant chemotherapy shows extended survival in some cases, supporting an aggressive and comprehensive approach to give these patients the best chance for a good outcome. Spontaneous brain hemorrhage in a full-term infant requires a diligent and persistent search to rule out an underlying neoplasm.
婴儿非典型畸胎样/横纹肌样瘤(ATRT)是高度恶性肿瘤,在生命的头两年最为常见。我们报告了一例3个月大的女孩,她出现全身性癫痫急性发作,经检查发现有大量自发性脑室内出血。血液掩盖了位于侧脑室中线和第三脑室顶部的中间帆的潜在ATRT,这是该部位首次报道的病例。需要进行系列影像学检查和两次脑室镜活检,以在这个独特位置以及不断演变的血肿中确诊肿瘤。手术切除后,患者接受了辅助化疗。在4年的随访中,患儿神经功能完好,达到正常发育里程碑,影像学检查未显示肿瘤迹象。ATRT以前预后极差,但最近有证据表明,完全手术切除并辅助化疗在某些情况下可延长生存期,支持采取积极全面的方法,为这些患者提供获得良好预后的最佳机会。足月婴儿的自发性脑出血需要进行细致持续的检查,以排除潜在肿瘤。