Inukai Koichi, Takashima Nobuhiro, Fujihata Shiro, Miyai Hirotaka, Yamamoto Minoru, Kobayashi Kenji, Tanaka Moritsugu, Hayakawa Tetsushi
Department of Surgery, Kariya Toyota General Hospital, 5-15 Sumiyoshi-cho, Kariya, Aichi, 448-8505, Japan.
Department of laparoscopic hernia center, Kariya Toyota General Hospital, 5-15 Sumiyoshi-cho, Kariya, Aichi, 448-8505, Japan.
BMC Surg. 2018 Apr 10;18(1):21. doi: 10.1186/s12893-018-0355-x.
Cowden disease is a genetic disorder associated with a mutation of the PTEN gene and is known to be easily complicated by generalized vascular malformations and malignant tumors. However, only a few reports have investigated the relationship between Cowden disease and vascular malformations. We present a case of Cowden disease along with a review of the literature.
The patient was a 48-year-old man who visited our hospital complaining of fresh blood in his stools and shortness of breath. Hematological tests showed the patient had severe anemia. On physical examination, white papules-several millimeters in size-were observed between the patient's eyebrows. White papules were also observed on the left corner of his mouth and buccal mucosa. An upper gastrointestinal endoscopy showed densely-packed, white, flat protrusions in the esophagus. While lower gastrointestinal endoscopy revealed a mass accompanied by arterial pulsation in the sigmoid colon. A diagnosis of Cowden disease was confirmed and a laparoscopic sigmoidectomy was performed to address the arteriovenous malformations in the sigmoid colon. Post-surgery, the patient had an unremarkable recovery and was discharged 7 days later.
We present a very rare case of Cowden disease with arteriovenous malformations occurring in the colon. Surgical resection is believed to be the first choice for treating congenital arteriovenous malformations of the intestines. However, the arteriovenous malformations in the colon in our patient were treated under laparoscopic guidance, making ours the first report describing laparoscopic treatment of colonic arteriovenous malformations occurring in the inferior mesenteric artery. Thus we demonstrate that laparoscopic treatment of arteriovenous malformations in the intestines is a minimally invasive and can be successfully applied in such cases.
考登病是一种与PTEN基因的突变相关的遗传性疾病，已知易并发全身性血管畸形和恶性肿瘤。然而，仅有少数报告研究了考登病与血管畸形之间的关系。我们报告一例考登病病例并进行文献复习。
患者为一名48岁男性，因便血和呼吸急促前来我院就诊。血液学检查显示患者患有严重贫血。体格检查时，在患者两眉之间观察到数毫米大小的白色丘疹。在其嘴角和颊黏膜也观察到白色丘疹。上消化道内镜检查显示食管内有密集的白色扁平突起。而下消化道内镜检查发现乙状结肠有一个伴有动脉搏动的肿物。考登病诊断得以确诊，并进行了腹腔镜乙状结肠切除术以处理乙状结肠的动静脉畸形。术后，患者恢复良好，7天后出院。
我们报告了一例极为罕见的考登病病例，其结肠出现动静脉畸形。手术切除被认为是治疗先天性肠道动静脉畸形的首选方法。然而，我们患者的结肠动静脉畸形是在腹腔镜引导下进行治疗的，这使我们成为首例描述在肠系膜下动脉发生的结肠动静脉畸形的腹腔镜治疗的报告。因此，我们证明了腹腔镜治疗肠道动静脉畸形是一种微创方法，可成功应用于此类病例。
