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