Adams-Oliver syndrome and portal hypertension: Fortuitous association or common mechanism?

作者：Silva Gisela^*; Braga Alexandre; Leitao Banquart; Mesquita Abel; Reis Aurelio; Duarte Carlos; Barbot Jose; Silva Ermelinda Santos

来源：American Journal of Medical Genetics, Part A, 2012, 158A(3): 648-651.

DOI：10.1002/ajmg.a.34435

• Adams-Oliver syndrome
• portal cavernoma
• hepatoportal sclerosis
• portal hypertension
• antiphospholipid antibody
• protein C deficiency

AdamsOliver syndrome (AOS) is a rare condition defined by combination of cutis aplasia and transverse limb abnormalities. Some authors have described a possible association between this syndrome and portal hypertension (PH) due to hepatoportal sclerosis (HPS). We present a boy with AOS who developed a progressive splenomegaly and hypersplenism at the age of 2 months, and was admitted for acute gastrointestinal bleeding (GI) at the age of 9 months. Subsequently, we documented an extrahepatic portal vein obstruction and esophageal varices. After several episodes of cataclysmic upper GI bleeding a mesentero-portal shunt (MPS) was performed at 10 months. The shunt thrombosed, and after three failed attempts of thrombectomy, it was removed. One month later a splenorenal shunt was performed, and this closed spontaneously by 3 years. The patient suffered from ischemic stroke after placing the first shunt, and has spastic diplegia, left frontal lobe epilepsy, hyperactivity and attention deficit disorder, and severe psychomotor delay. At 11 years and he presented with chronic liver failure and hyperammonemia and coagulopathy. We hypothesize that there may be an early embryonic vascular abnormality (vascular disruption) that may explain these vascular phenomena.

• 出版日期2012-3