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Abstract：
BACKGROUND: Polycystic liver disease (PCLD) is a genetic disorder characterized by the growth of >10 cysts in the liver. PCLD is associated with polycystic kidney disease (PKD) in 80-90%of cases (Kothadia et al., 2023 [1]). PCLD can occur in isolation though rarely in children. We present a case report of a child with symptomatic isolated PCLD.
METHODS: A 23-month old female child presented with a 17-month history of gradual increase in abdominal mass. She had acute onset of postprandial vomiting and shortness of breath while lying flat. On examination, she was irritable with massive abdominal distension. Liver function test done showed markedly elevated liver enzymes with preservation of liver synthesis function. Computed tomography (CT) scan showed a large intra-abdominal cyst and normal kidneys bilaterally. During laparotomy, we found multiple exophytic cysts arising from segment IVa of the liver. Hepatic resection was done successfully and patient recovered uneventfully. Histology showed Von Meyenburg complexes characteristic of PCLD.
UNASSIGNED: The goal of management should be to counter symptomatology by intervening on developed cysts. The therapeutic options are individualized to address the symptoms and improve the patients\' quality of life. Follow up of the patients is based on the presentation and intervention performed, during which period recurrence of cysts is assessed. Complete resection of the liver cysts is recommended to avoid the risk of cholangiocarcinoma.
CONCLUSIONS: Close follow up by physical examination, laboratory tests and imaging modalities is necessary to detect any recurring masses and malignancy transformation of the cysts to enable timely intervention.
METHODS: A 23-month old female child presented with a 17-month history of gradual increase in abdominal mass. She had acute onset of postprandial vomiting and shortness of breath while lying flat. On examination, she was irritable with massive abdominal distension. Liver function test done showed markedly elevated liver enzymes with preservation of liver synthesis function. Computed tomography (CT) scan showed a large intra-abdominal cyst and normal kidneys bilaterally. During laparotomy, we found multiple exophytic cysts arising from segment IVa of the liver. Hepatic resection was done successfully and patient recovered uneventfully. Histology showed Von Meyenburg complexes characteristic of PCLD.
UNASSIGNED: The goal of management should be to counter symptomatology by intervening on developed cysts. The therapeutic options are individualized to address the symptoms and improve the patients\' quality of life. Follow up of the patients is based on the presentation and intervention performed, during which period recurrence of cysts is assessed. Complete resection of the liver cysts is recommended to avoid the risk of cholangiocarcinoma.
CONCLUSIONS: Close follow up by physical examination, laboratory tests and imaging modalities is necessary to detect any recurring masses and malignancy transformation of the cysts to enable timely intervention.
摘要：
背景：多囊肝病（PCLD）是一种遗传性疾病，其特征是肝脏中>10个囊肿的生长。在80-90％的病例中，PCLD与多囊肾病（PKD）相关（Kothadia等人。,2023年[1]）。PCLD可以单独发生，但很少发生在儿童中。我们提供了一例有症状的孤立性PCLD儿童的病例报告。
方法：一名23个月大的女性儿童，有17个月的腹部肿块逐渐增加的病史。她平躺时出现餐后呕吐和呼吸急促的急性发作。在检查中，她烦躁，腹胀很大。肝功能检查显示肝酶明显升高，肝脏合成功能得到保护。计算机断层扫描（CT）扫描显示腹内大囊肿和双侧正常肾脏。在剖腹手术中,我们发现肝脏IVa段出现多个外生性囊肿。肝切除术成功完成，患者恢复顺利。组织学显示VonMeyenburg复合物具有PCLD的特征。
■管理的目标应该是通过干预已发展的囊肿来对抗症状学。治疗选择是个性化的，以解决症状和改善患者的生活质量。对患者的随访基于所进行的介绍和干预，在此期间评估囊肿的复发。建议完全切除肝囊肿以避免胆管癌的风险。
结论：体格检查密切随访，实验室检查和影像学检查是必要的,以检测囊肿的任何复发肿块和恶性转化,以便能够及时进行干预.
方法：一名23个月大的女性儿童，有17个月的腹部肿块逐渐增加的病史。她平躺时出现餐后呕吐和呼吸急促的急性发作。在检查中，她烦躁，腹胀很大。肝功能检查显示肝酶明显升高，肝脏合成功能得到保护。计算机断层扫描（CT）扫描显示腹内大囊肿和双侧正常肾脏。在剖腹手术中,我们发现肝脏IVa段出现多个外生性囊肿。肝切除术成功完成，患者恢复顺利。组织学显示VonMeyenburg复合物具有PCLD的特征。
■管理的目标应该是通过干预已发展的囊肿来对抗症状学。治疗选择是个性化的，以解决症状和改善患者的生活质量。对患者的随访基于所进行的介绍和干预，在此期间评估囊肿的复发。建议完全切除肝囊肿以避免胆管癌的风险。
结论：体格检查密切随访，实验室检查和影像学检查是必要的,以检测囊肿的任何复发肿块和恶性转化,以便能够及时进行干预.
