Avila L F, Luis A L, Encinas J L, Hernández F, Olivares P, Fernández Cuadrado J, Hierro L, Jara P, López Santamaría M, Tovar J A
Departamento de Cirugía Pediátrica, Hospital Infantil Universitario La Paz, Madrid.
Cir Pediatr. 2006 Oct;19(4):204-9.
Congenital portosystemic shunt (CEPS) is a rare condition that was first reported by John Abernethy in 1793. Two types of CEPS are described: type I (side to end anastomosis) or congenital absence of the portal vein, and type II (side to side anastomosis) with portal vein supply partially conserved. Type I CEPS is usually seen in girls and associates multiple malformations as polysplenia, malrotation, and cardiac anomalies. Type II is even rarer with no sex preference and no malformations associated. Hepatic encephalopathy is a common complication of both types in adulthood. Liver transplantation is the only effective treatment for symptomatic type I CEPS. A therapeutic approach for type II could be surgical closure of the shunt.
To analyse our experience in diagnosis and management of portosystemic shunts.
We report 4 cases of CEPS (3 type I and 1 type II) diagnosed between January-1997 and March-2005 in our department.
We present 4 patients with ages at diagnosis ranging from 0 to 28 months, 3 type I CEPS (2 boys and 1 girl) and 1 boy type II. The type I girl was prenatally diagnosed at 12 weeks of gestation. Initial clinical signs in type 1 boys were splenomegaly and hypersplenism, both with normal pondo-statural growth. No polysplenia or cardiac anomalies were assessed. One of them presented mild developmental delay, dismorphic features and facial telangiectasias. He had normal coagulation tests with chronic hepatic dysfunction (high transaminases) and regenerative nodular lesions were seen by imaging techniques. The other type I patient had hypoprothrombinemia, tendency to capillary bleeding (haematomas and epistaxis) with preserved liver function. Both patients have developed mild portal hypertension and present steatosis signs at liver biopsy. The type I girl presents a 21 trisomy and associates a cardiac anomaly (interauricular communication). Her hepatic function test are normal but liver calcifications can be seen by ultrasound. Type II child associates hypospadias but he has no clinical sigh or symptom related to the shunt. In our three cases diagnosis was suggested by conventional and Doppler ultrasound and confirmed by angio-resonance imaging. All our patients are included in a meticulous clinical and radiological follow-up with no need of surgical treatment for the shunt until now.
Although diagnosis of these malformations could be casual we have to think about CEPS in children presenting unspecific liver disease. Magnetic angio-resonance imaging is actually the best diagnosis methods for CEPS. These patients have a high risk for developing hepatic encephalopathy and portal hypertension, so a careful follow-up is required although surgery is not usually needed until adulthood.
先天性门体分流（CEPS）是一种罕见疾病，于1793年由约翰·阿伯内西首次报道。CEPS分为两种类型：I型（端侧吻合）或先天性门静脉缺失，II型（侧侧吻合）且门静脉供血部分保留。I型CEPS通常见于女孩，常伴有多种畸形，如多脾、肠旋转不良和心脏异常。II型更为罕见，无性别倾向且无相关畸形。肝性脑病是两种类型在成年期的常见并发症。肝移植是有症状的I型CEPS的唯一有效治疗方法。II型的治疗方法可以是手术闭合分流。
分析我们在门体分流诊断和管理方面的经验。
我们报告了1997年1月至2005年3月在我们科室诊断的4例CEPS（3例I型和1例II型）。
我们介绍了4例诊断时年龄从0至28个月的患者，3例I型CEPS（2例男孩和1例女孩）和1例II型男孩。I型女孩在妊娠12周时产前诊断。I型男孩的初始临床症状为脾肿大和脾功能亢进，两者生长发育正常。未评估多脾或心脏异常。其中1例有轻度发育迟缓、畸形特征和面部毛细血管扩张。他凝血试验正常，但有慢性肝功能障碍（转氨酶高），影像学检查可见再生结节性病变。另1例I型患者有低凝血酶原血症，有毛细血管出血倾向（血肿和鼻出血），肝功能正常。两名患者均出现轻度门静脉高压，肝活检有脂肪变性迹象。I型女孩患有21三体综合征并伴有心脏异常（房间隔缺损）。她的肝功能检查正常，但超声可见肝脏钙化。II型患儿伴有尿道下裂，但无与分流相关的临床体征或症状。在我们的3例病例中，常规超声和多普勒超声提示诊断，并经血管磁共振成像证实。我们所有患者均接受细致的临床和影像学随访，截至目前无需对分流进行手术治疗。
尽管这些畸形的诊断可能偶然，但对于出现非特异性肝病的儿童我们必须考虑到CEPS。磁共振血管成像实际上是CEPS的最佳诊断方法。这些患者发生肝性脑病和门静脉高压的风险很高，因此需要仔细随访，尽管通常直到成年才需要手术。
