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Case Reports
. 2024 Mar 21;10(3):101465.
doi: 10.1016/j.jvscit.2024.101465. eCollection 2024 Jun.

Spontaneous celiac artery aneurysms in 13-year-old and 10-year-old brothers with PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome

Apoorva Bhandari  1 , Victoria Siu  2 , Audra A Duncan  1
Affiliations
Case Reports

Spontaneous celiac artery aneurysms in 13-year-old and 10-year-old brothers with PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome

Apoorva Bhandari et al. J Vasc Surg Cases Innov Tech. .

Abstract

PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome is a rare, autosomal recessive connective tissue disorder characterized by congenital hypotonia, early-onset, progressive kyphoscoliosis, and generalized joint hypermobility. PLOD1-kyphoscoliotic Ehlers-Danlos syndrome is also associated with heightened vascular fragility, resulting in an elevated susceptibility to recurrent vascular complications such as arterial aneurysms, dissection, and spontaneous arterial rupture. We report the cases of two affected brothers: a 13-year-old boy presenting with spontaneous rupture of a celiac artery aneurysm and a 10-year-old boy presenting with a rapidly enlarging celiac artery aneurysm requiring urgent repair.

Keywords: Arterial rupture; Celiac pseudoaneurysm; Kyphoscoliotic Ehlers-Danlos syndrome; Vascular complications; Vascular fragility.

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Conflict of interest statement

None.

Figures

Fig 1
Fig 1
Patient 1. A, Computed tomography (CT) scan showing a celiac axis abnormality, retrospectively identified as an aneurysm, and severe spinal curvature. B, Repeat CT scan confirming celiac artery pseudoaneurysm rupture.
Fig 2
Fig 2
Patient 2. A follow-up computed tomography (CT) scan at 8 months postoperatively revealed a 9.5-mm recurrent pseudoaneurysm at the previous ligation site.
See this image and copyright information in PMC

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