| Autor: |
Vornetti, Gianfranco, Renzetti, Benedetta, Vara, Giulio, Tonon, Caterina, Lodi, Raffaele, Conti, Alfredo, Serchi, Elena, Donti, Andrea, Mariucci, Elisabetta, Spinardi, Luca |
| Zdroj: |
American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-5, 5p |
| Abstrakt: |
A small number of case reports have documented a link between atlantoaxial dislocation (AAD) and vertebral artery dissection (VAD), but this association has never been described in patients with hereditary connective tissue disorders. We present a case of an 18‐year‐old female patient, diagnosed with Marfan syndrome since the age of one, who underwent brain MRA for intracranial aneurysm screening revealing tortuosity of the internal carotid and vertebral arteries as well as atlantoaxial dislocation. Since the patient was asymptomatic, a wait‐and‐see approach was chosen, but a follow‐up MRA after 18 months showed the appearance of a dissecting pseudoaneurysm of the V3 segment of the left vertebral artery. Despite the patient being still asymptomatic, it was decided to proceed with C1–C2 stabilization to prevent further vascular complications. Follow‐up imaging showed realignment of the atlantoaxial joint and reduction of the dissecting pseudoaneurysm of the left vertebral artery. In our patient, screening MRA has led to the discovery of asymptomatic arterial and skeletal abnormalities which, if left untreated, might have led to severe cerebrovascular complications. Therefore, AAD correction or close monitoring with MRA should be provided to MFS patients with this craniovertebral junction anomaly, even if asymptomatic. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
Plný text