Abdominal aortic aneurysm in a child with tuberous sclerosis

Gruhl, Sabrina Lasini; Tham, Yi Chuan; Lee, York Tien; Nakao, Masakazu

doi:10.1016/j.jvscit.2022.05.018

Cited by 6 publications

(7 citation statements)

References 17 publications

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“…10 The age of presentation is variable, however, Salerno et al showed that the age of presentation of AA was before 5 years of age, and mortality due to aneurysmal rupture was 29%. 3,11 Currently, there is no consensus regarding treatment, however, surgery continues to be the best option according to each patient. 11 When a TSC related TAAA is present, surgery must be realized to avoid the risk of rupture.…”

Section: Discussionmentioning

confidence: 99%

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Open Emergency Repair of a Thoracoabdominal Aortic Aneurysm on a 12-Year-Old Boy With Tuberous Sclerosis

Corso-Ramírez

López

Flórez

et al. 2023

Vasc Endovascular Surg

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Tuberous sclerosis complex is a neurocutaneous syndrome caused by an autosomal dominant genetic disorder. This condition can lead to the expression of many vascular anomalies especially, in the pediatric population. Likewise, it has been linked with aortic aneurysm development. We report a case of a 12-year-old boy who presented a 97 × 70 mm Crawford type IV thoracoabdominal aortic aneurysm. Satisfactory open surgical repair was performed with an 18-mm multibranched dacron tube graft. Clinical and imaging findings revealed a de novo tuberous sclerosis diagnosis. The patient was discharged uneventfully during a 1-month follow-up.

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Section: Discussionmentioning

confidence: 99%

“…3,11 Currently, there is no consensus regarding treatment, however, surgery continues to be the best option according to each patient. 11 When a TSC related TAAA is present, surgery must be realized to avoid the risk of rupture. Frequently, this condition is diagnosed when a rupture of the aortic aneurysm is done.…”

Section: Discussionmentioning

confidence: 99%

Open Emergency Repair of a Thoracoabdominal Aortic Aneurysm on a 12-Year-Old Boy With Tuberous Sclerosis

Corso-Ramírez

López

Flórez

et al. 2023

Vasc Endovascular Surg

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“…Abdominal aortic aneurysms in pediatric patients are more commonly associated with systemic diseases like Kawasaki disease, Cogan syndrome, and Behcet disease or with connective tissue disorders like Ehlers-Danlos, Marfan, and Loeys-Dietz syndrome 8 . However, AAA formation in TSC has been observed, with case reports and case series published as far back as the late 1960s 9–15 . Abdominal aortic aneurysms in pediatric patients with TSC remains a rare phenomenon with less than 30 cases reported in the literature to date, with fewer cases among those less than a year old.…”

Section: Discussionmentioning

confidence: 99%

“…8 However, AAA formation in TSC has been observed, with case reports and case series published as far back as the late 1960s. [9][10][11][12][13][14][15] Abdominal aortic aneurysms in pediatric patients with TSC remains a rare phenomenon with less than 30 cases reported in the literature to date, with fewer cases among those less than a year old. In fact, the youngest case reported involved a 4.5-monthold infant who died after an aneurysm rupture.…”

Section: Discussionmentioning

confidence: 99%

An Autopsy Case of Abdominal Aortic Aneurysm in a Pediatric Decedent With Tuberous Sclerosis Complex

Auen

Linde

2023

Am J Forensic Med Pathol

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Vascular involvement in tuberous sclerosis complex (TSC) is uncommon and even more so in pediatric patients. When asymptomatic, these vascular abnormalities carry increased risk of rupture with increased morbidity and mortality. Here, we describe a case of a ruptured unrecognized abdominal aortic aneurysm in an 11-month-old patient with a history of TSC. The abdominal aortic aneurysm was discovered at autopsy and highlights the rarity of abdominal aortic aneurysm in pediatric patients diagnosed with TSC and the importance of screening for associated aneurysmal disease in the pediatric population with TSC. Furthermore, the extensive retroperitoneal hemorrhage seen in this case also highlights a rare but potential mimic of abuse in the pediatric population.

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“…For the management of arterial aneurysms, immunomodulatory therapy, surgical repair, or a combination of these 2 approaches are indicated for vasculitis cases, depending on the size of the lesions and extension of the disease. 13,14 Inherited conditions such as Ehlers-Danlos, Marfan syndrome, 15 Loeys-Dietz syndrome, 16 and tuberous sclerosis 17 are also described in literature in association with arterial aneurysms, many of them particularly involving the aorta. For these cases, treatment is based on surgical repair alone, and close follow-up with imaging is required for life.…”

Section: Discussionmentioning

confidence: 99%

Rare Case of Abdominal Aortic and Multiple Visceral Aneurysms in a Pediatric Patient With PIK3CA Mutation and Vasculitis

Gomes,

Parodi,

Wood

et al. 2023

Vasc Endovascular Surg

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Abdominal aortic aneurysms (AAA) are most commonly observed in elderly male patients and are particularly rare in children. Among the pediatric population, they are usually diagnosed in the context of connective tissue disorders, genetic mutations, or vasculitis. The same is true of visceral arteries aneurysms. This case report describes the staged management of an 11-year-old patient presenting PIK3CA mutation and a 5.8 cm infrarenal AAA associated with bilateral common iliac arteries and multiple visceral aneurysms, the largest observed in the superior mesenteric artery (SMA = 3.2 cm). After careful evaluation, decision was made to first approach the most life-threatening lesion (the infrarenal AAA due to the large diameter) and the remaining aneurysms in secondary procedures, with special attention to the SMA aneurysm. The patient underwent a staged repair, with the first phase consisting of an aortobi-iliac graft with the distal anastomosis made at the left common iliac artery and right external iliac artery. The right hypogastric artery was ligated. The second procedure consisted of SMA aneurysm repair with a plication technique, as 7 branches were visualized coming off the aneurysm sac. Postoperative pathology analysis of the aortic and SMA aneurysms sac revealed vasculitis with a mixed inflammatory pattern and a COL3A1 gene heterozygote variant. He is currently in his 18th month after the last surgical intervention, receiving immunomodulatory therapy, with a planned follow-up by the interdisciplinary team to monitor the medications’ side effects and the diameter of the remaining visceral aneurysms.

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Abdominal aortic aneurysm in a child with tuberous sclerosis

Cited by 6 publications

References 17 publications

Open Emergency Repair of a Thoracoabdominal Aortic Aneurysm on a 12-Year-Old Boy With Tuberous Sclerosis

Open Emergency Repair of a Thoracoabdominal Aortic Aneurysm on a 12-Year-Old Boy With Tuberous Sclerosis

An Autopsy Case of Abdominal Aortic Aneurysm in a Pediatric Decedent With Tuberous Sclerosis Complex

Rare Case of Abdominal Aortic and Multiple Visceral Aneurysms in a Pediatric Patient With PIK3CA Mutation and Vasculitis

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