Vascular Ehlers-Danlos Syndrome in a 13-Year-Old Boy With Fatal Spontaneous Rupture of the Superior Mesenteric Artery: A Case Report

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  • Furugane Ryoya
    Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development
  • Fujino Akihiro
    Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development
  • Uchida Yoshiko
    Division of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development
  • Kano Motohiro
    Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development
  • Nosaka Shunsuke
    Department of Radiology, National Center for Child Health and Development
  • Kanamori Yutaka
    Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development
  • Kasahara Mureo
    Center for Organ Transplantation, National Center for Child Health and Development
  • Umezawa Akihiro
    Center for Regenerative Medicine, National Center for Child Health and Development
  • Yoshioka Takako
    Department of Pathology, National Center for Child Health and Development
  • Kaname Tadashi
    Department of Genome Medicine, National Center for Child Health and Development

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Other Title
  • 上腸間膜動脈起始部断裂にて発症した血管型Ehlers-Danlos症候群の13歳男児例
  • ジョウチョウカンマク ドウミャクキシブダンレツ ニテ ハッショウ シタ ケッカンガタ Ehlers-Danlos ショウコウグン ノ 13サイ ダンジレイ

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Abstract

<p>A 13-year-old boy with vascular Ehlers-Danlos syndrome, who was referred to our hospital, presented with sudden-onset upper abdominal pain and vomiting. Although the patient was ambulatory during the emergency room visit, he went into shock during clinical examination. Bedside ultrasonography revealed a huge hematoma in the right upper retroperitoneum. After stabilization of blood pressure by intra-aortic balloon occlusion in the emergency room, an emergent laparotomy was performed. The abdominal blood vessels were extremely fragile, and even a slight pull consequently tore the blood vessels intraoperatively. As the organ ischemic time had reached the extent of irreversible damage, the operation was terminated. The patient died three hours after the surgery. On the basis of the absence of elastic fibers in the vessel wall in autopsy specimens and the detection of a novel pathological variant of the COL3A1 gene, pathological and genetic mutation analyses, respectively, confirmed the diagnosis of vascular Ehlers-Danlos syndrome. In cases of unexplained, sudden, and massive retroperitoneal bleeding, vascular Ehlers-Danlos syndrome, despite its rarity, should be considered in the differential diagnosis.</p>

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