Online ISSN: 2187-2988 Print ISSN: 0911-1794
特定非営利活動法人日本小児循環器学会 Japanese Society of Pediatric Cardiology and Cardiac Surgery
Pediatric Cardiology and Cardiac Surgery 33(1): 76-82 (2017)

症例報告Case Report

肺動静脈瘻を契機に発見され,脳脊髄動静脈瘻の破裂により死亡した遺伝性出血性末梢血管拡張症の小児2例Hereditary Hemorrhagic Telangiectasia Patients Detected by Pulmonary Arteriovenous Malformations: Two Pediatric Death Cases from Rupture of Cerebral and Spinal Arteriovenous Malformations

兵庫県立こども病院循環器科Department of Cardiology, Kobe Children’s Hospital ◇ Hyogo, Japan

受付日:2016年6月8日Received: June 8, 2016
受理日:2016年12月26日Accepted: December 26, 2016
発行日:2017年1月1日Published: January 1, 2017


症例1: PAVMに対してコイル塞栓を4回行ったが効果は限定的であった.脳動静脈瘻を合併したが経過観察されていた.7歳時より繰り返す鼻出血と皮膚の毛細血管拡張を認め,遺伝子検査でendoglin遺伝子の変異が確認され,HHTと診断した.7歳5か月時に脳動静脈瘻が破裂し死亡した.

症例2: 微小かつびまん性PAVMのためコイル塞栓適応外と判断した.脊髄動静脈瘻を合併したが経過観察されていた.皮膚の毛細血管拡張がありHHTが疑われたが,5歳6か月時に脊髄動静脈瘻が破裂し死亡した.


Pulmonary arteriovenous malformations (PAVM) are mostly associated with hereditary hemorrhagic telangiectasia (HHT). We report two pediatric patients diagnosed with HHT on the basis of PAVM who died because of cerebral and spinal AVM rupture. Two 4-year-old boys were diagnosed with PAVM due to hypoxia. Case 1: This patient underwent transcatheter embolization for PAVM four times, but the efficacy was limited. He suffered a complication in the form of cerebral AVM and was treated conservatively. We diagnosed him with HHT because of recurrent epistaxis, telangiectasia of the skin, and AVM. Genetic tests revealed a mutation in the gene for endoglin. At the age of 7 years and 5 months, he died of cerebral AVM rupture. Case 2: Transcatheter embolization could not be performed because of multiple, diffuse PAVM. The patient was complicated by spinal AVM and treated conservatively. We suspected HHT because of telangiectasia of the skin and AVM. At the age of 5 years and 6 months, he died of spinal AVM rupture. HHT is vascular dysplasia that is expressed in multiple organs, and sepsis is the main cause of death. We tend to treat PAVM. But because cerebral and spinal AVM are common as the cause of death, we should check for other forms too, such as cerebral and gastrointestinal AVM, and continue long-term follow-up with concomitant consultation. However, untreatable or unexpected manifestations may occur in these cases, making HHT difficult to treat.

Key words: pulmonary arteriovenous malformations; hereditary hemorrhagic telangiectasia; cerebral arteriovenous malformations; spinal arteriovenous malformations

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