Department of Radiology, Hacettepe University School of Medicine Ankara, Turkey.
Department of Radiology, Hacettepe University School of Medicine Ankara, Turkey.
Eur J Radiol. 2019 Jul;116:41-46. doi: 10.1016/j.ejrad.2019.04.016. Epub 2019 Apr 23.
To describe the liver imaging findings of Hereditary tyrosinemia type-1 (HT1) patients.
We report 16 patients (8 Female and 8 Male) with HT-1. Their demographic features, imaging findings and alpha feto protein (AFP) levels were recorded. Imaging features on CT and MR were evaluated for the following characteristics: contour of the liver and liver nodules. Liver nodules were categorized as; regenerative, dysplastic, fatty and malignant nodules (HCC).
Thirteen (81%) patients had multiple liver nodules (>20) on imaging studies. Five patients (31%) had regenerative nodules, six (38%) had dysplastic nodules and ten (63%) had fatty nodules. Dysplastic nodules were encountered in two patients with HCC and in four patients without a tumor. Four patients (25%) had HCC nodule on imaging studies. Those four patients had biopsy and all of them had HCC nodule on histopathology. In the follow-up period, in one patient fatty nodules had increased in size, in one patient regenerative nodules had disappeared and in one patient dysplastic nodules had disappeared.
Multiple fatty nodules can be seen in HT1 patients and in some patients, the regenerative and dysplastic nodules can disappear during the follow-up period.
描述 1 型遗传性酪氨酸血症（HT1）患者的肝脏影像学表现。
我们报告了 16 例 HT1 患者（8 名女性和 8 名男性）。记录了他们的人口统计学特征、影像学表现和甲胎蛋白（AFP）水平。对 CT 和 MR 的影像学特征进行了评估，包括肝脏轮廓和肝脏结节。将肝脏结节分为再生性、发育不良性、脂肪性和恶性结节（HCC）。
13 例（81%）患者的影像学检查显示有多个肝脏结节（>20 个）。5 例（31%）有再生性结节，6 例（38%）有发育不良性结节，10 例（63%）有脂肪性结节。在 2 例 HCC 患者和 4 例无肿瘤患者中发现了发育不良性结节。4 例（25%）患者的影像学检查显示有 HCC 结节。这 4 例患者均进行了活检，组织病理学检查均显示 HCC 结节。在随访期间，1 例脂肪性结节的大小增大，1 例再生性结节消失，1 例发育不良性结节消失。
HT1 患者可出现多个脂肪性结节，在一些患者中，再生性和发育不良性结节在随访期间可能会消失。
