背景:先天性门体分流术(CPSS)是罕见的血管异常,导致门静脉系统和全身静脉循环之间的通信,影响估计30,000至50,000名活产。CPSS可以在任何年龄表现为多种严重程度的多系统疾病,模仿常见和罕见的儿科疾病。
方法:案例A:在一个身高高的10岁女孩的肝脏中发现了血管畸形,高级体细胞成熟,胰岛素抵抗与高胰岛素血症,高雄激素血症和短暂性血尿。检查还提示肺压升高。病例B:一个有新生儿低血糖病史的年轻女孩,患有8三体镶嵌症,新生儿短暂性胆汁淤积和身材高大在6岁时出现新的转氨酶水平升高.案例C:一个3岁的男孩说话迟缓,高个子和腹痛进行腹部超声检查(US)显示多个肝结节,肝磁共振成像(MRI)诊断为肝血管瘤。管理和结果:在肝多普勒超声检查发现静脉畸形后,所有3例患者均在确诊后12~18个月内转诊至专门的肝脏中心进行进一步检查.血管造影计算机断层扫描(CT)扫描证实存在肝内或肝外CPSS和多个肝结节。在T1加权脑MRI上,所有三个人的苍白球中都有高信号。在病例A和病例C中,右心导管检查证实了肺动脉高压。使用血管内或手术方法关闭分流。如果存在恶性变性的风险,则通过手术切除肝结节,或者在良性时通过连续成像密切监测。
结论:这些病例说明了CPSS的大多数常见主诉和表现。肝多普勒超声是诊断的关键。考虑到不明原因内分泌患者的诊断检查中的门体分流,肝脏,胃肠道,心血管,血液学,肾脏或神经认知障碍很重要,因为及时转诊至专门中心可能会显著影响患者的预后.
BACKGROUND: Congenital portosystemic shunts (CPSS) are rare vascular anomalies resulting in communications between the portal venous system and the systemic venous circulation, affecting an estimated 30,000 to 50,000 live births. CPSS can present at any age as a multi-system disease of variable severity mimicking both common and rare pediatric conditions.
METHODS: Case A: A vascular malformation was identified in the liver of a 10-year-old girl with tall stature, advanced somatic maturation, insulin resistance with hyperinsulinemia, hyperandrogenemia and transient hematuria. Work-up also suggested elevated pulmonary pressures. Case B: A young girl with trisomy 8 mosaicism with a history of neonatal hypoglycemia, transient neonatal cholestasis and tall stature presented newly increased aminotransferase levels at 6 years of age. Case C: A 3-year-old boy with speech delay, tall stature and abdominal pain underwent abdominal ultrasound (US) showing multiple liver nodules, diagnosed as liver hemangiomas by hepatic magnetic resonance imaging (MRI). Management and outcome: After identification of a venous malformation on liver Doppler US, all three patients were referred to a specialized liver center for further work-up within 12 to 18 months from diagnosis. Angio-computed tomography (CT) scan confirmed the presence of either an intrahepatic or extrahepatic CPSS with multiples liver nodules. All three had a hyperintense signal in the globus pallidus on T1 weighted cerebral MRI. Right heart catheterization confirmed pulmonary hypertension in cases A and C. Shunts were closed either using an endovascular or surgical approach. Liver nodules were either surgically removed if there was a risk of malignant degeneration or closely monitored by serial imaging when benign.
CONCLUSIONS: These cases illustrate most of the common chief complaints and manifestations of CPSS. Liver Doppler US is the key to diagnosis. Considering portosystemic shunts in the diagnostic work-up of a patient with unexplained endocrine, liver, gastro-intestinal, cardiovascular, hematological, renal or neurocognitive disorder is important as prompt referral to a specialized center may significantly impact patient outcome.