An Autopsy Case of Sudden Death in Neurofibromatosis Type 1 With Pheochromocytoma and Myocarditis.
An Autopsy Case of Sudden Death in Neurofibromatosis Type 1 With Pheochromocytoma and Myocarditis.
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1 型神经纤维瘤病伴嗜铬细胞瘤和心肌炎猝死尸检一例。
DOI：
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发表时间：
2017
影响因子：
1
通讯作者：
K. Saigusa
中科院分区：
文献类型：
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作者：
M. Takamiya;H. Niitsu;K. Saigusa
报告一例33岁男性因1型神经纤维瘤病（von Recklinghausen病）、嗜铬细胞瘤和心肌炎猝死的尸检病例。死者在他的卧室里被发现时心肺骤停。颈部、胸部、腹部、背部可见息肉样、弹性皮肤丘疹，胸部、腹部可见扁平黑褐色斑疹。平，卵形，深褐色的雀斑存在于两腋下。右肾上腺检查发现一个5厘米× 5厘米× 3厘米的肿瘤。显微镜下心肌检查显示中度嗜中性粒细胞和淋巴细胞浸润。在右侧肾上腺，肿瘤细胞含有丰富的颗粒状嗜酸性细胞质，并呈肺泡型细胞嵌套（Zellballen）。多角形细胞和丰富的维管网。免疫组化分析显示细胞嗜铬粒蛋白A和多巴胺β-羟化酶呈弥漫性阳性。此外，来自右心和右髂总静脉的血液含有高浓度的血清肾上腺素、去甲肾上腺素和多巴胺。死亡归因于肾上腺危机：由嗜铬细胞瘤产生的过量儿茶酚胺引起的循环衰竭。此外，长期由儿茶酚胺引起的心肌炎也会对临床病程产生不利影响。当1型神经纤维瘤病发生猝死时，应考虑嗜铬细胞瘤和心肌炎。
An autopsy case of sudden death in a 33-year-old man with neurofibromatosis type 1 (von Recklinghausen disease), pheochromocytoma, and myocarditis is reported. The decedent was found in his bedroom in cardiopulmonary arrest. Polypoid, elastic dermal papules on the neck, chest, abdomen, and back, and flat dark-brown macules on the chest and abdomen were observed. Flat, ovoid, dark-brown freckles were present in both axillae. Examination of the right adrenal gland revealed a tumor measuring 5 cm × 5 cm × 3 cm. Microscopic examination of the myocardium revealed moderate neutrophilic and lymphocytic infiltrates. In the right adrenal gland, tumor cells contained abundant granular eosinophilic cytoplasm and exhibited cell-nesting with an alveolar pattern (Zellballen). Polygonal cells were seen together with rich vascular networks. Immunohistochemical analyses showed cells diffusely positive for chromogranin A and dopamine β-hydroxylase. Furthermore, blood from the right heart and the right common iliac vein contained high concentrations of serum epinephrine, norepinephrine, and dopamine. Death was attributed to adrenal crisis: circulatory failure caused by excessive catecholamines produced by the pheochromocytoma. In addition, myocarditis, which had been induced chronically by catecholamines, would have also contributed adversely to the clinical course. Pheochromocytoma and myocarditis should be considered when sudden death occurs in the setting of neurofibromatosis type 1.