Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report

Background Arterial Tortuosity Syndrome (ATS) is a rare autosomal recessive disorder characterized by elongated and tortuous arteries. Although ATS showed a significant clinical and pathophysiological overlap with other syndromes involving connective tissues, only few cases of cerebrovascular events related to this syndrome have been described so far. Case presentation We report the case of a 33-years-old male diagnosed with ATS since childhood, that experienced three sudden episodes of expressive aphasia and right hemiparesis with spontaneous resolution. He was treated with recombinant tissue plasminogen activator (r-TPA) at a dosage of 0.9 mg/kg with a complete recovery. Brain Magnetic Resonance Imaging (MRI) showed the absence of acute ischemic lesions and the patient was diagnosed with recurrent transient ischemic attacks (TIA). Intracranial and supra-aortic trunks Magnetic Resonance Angiography (MRA) and Angio-CT scan of the thoracic and abdominal aorta showed marked vessel tortuosity without stenosis. To our knowledge, this is the first reported case of an ATS patient with TIA in young age that was treated with intravenous thrombolysis with recombinant plasminogen activator. Conclusion Our report strengthens the relationship between ATS and juvenile cerebrovascular events, suggesting that an extensive study of body vessels in order to detect potential stenoses or occlusions in these cases is needed. The greater predisposition to cerebrovascular events in ATS could benefit from a more aggressive primary and secondary prevention therapy.

Atypical Macular Presentation in a FRAT Case and HANAC Syndrome, A Case Report

Purpose: Report an atypical Familial Retinal Arterial Tortuosity (FRAT) case associated with Hereditary Angiopathy with Nephropathy, Aneurysm and Cramps (HANAC). Methods: The authors report the case of a female patient with FRAT and HANAC, and an asymmetric ocular presentation which is unusual in Familial Retinal Arterial Tortuosity patients. Conclusion: These findings help in better understanding this rare disease. HANAC Syndrome is not a common issue; thus, it is essential to understand it to make the right diagnosis. Careful ophthalmological examination plays a key role in this process since, in the herein reported case, it could have helped to diagnose a disease capable of affecting a patient’s health, although it was an atypical ocular impairment.

Two fetuses in one family of arterial tortuosity syndrome: prenatal ultrasound diagnosis

Background Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disorder chiefly characterized by elongated and tortuosity of the large and medium sized arteries and anomalies of the vascular elastic fibers. Here we reported cases of brother about ATS from the same family on the prenatal ultrasound diagnosis. Reports of this case are rare in antenatally and we draw the vessel simulated diagram to display visually. Case presentation Prenatal ultrasound scanning at 29 weeks of gestation of the first fetus showed obvious tortuous and elongated of the aortic arch, ductus arteriosus, left and right pulmonary arteries, carotid and subclavian arteries. Three months after delivery, Contrast-enhanced computed tomography images (CTA) were performed to clearly display vascular abnormalities consistent with prenatal diagnosis of ultrasound. Whole exome sequencing (WES) was performed eight months after birth, two heterozygous variants of SLC2A10 gene was detected in newborn and their father and mother, respectively. Prenatal ultrasound scan at 22 weeks of gestation of the second fetus showed similar cardiovascular imaging. After birth the siblings have facial characteristic features gradually as aging. No surgical intervention was performed in the siblings follow up 19 months. Conclusions The key points of prenatal ultrasound diagnosis of ATS are the elongation and tortuosity of the large and medium sized arteries. Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.

Arterial Tortuosity Syndrome

A rare autosomal recessive condition, Arterial tortuosity syndrome (ATS) presents with ectactic blood vessels, cutaneous laxity, and bowel rupture. We report a case of an asymptomatic infant with arterial tortuosity syndrome who presented with left ventricular hypertrophy without any obvious obstruction to the outflow tract.

Utility of Pipeline embolization device for emergency recanalization of a dissecting carotid tonsillar loop: illustrative cases

BACKGROUNDCervical arterial tortuosity is not uncommon in patients with spontaneous carotid artery dissections (CADs), but the tortuosity often precludes endovascular stent reconstruction. The authors report 2 cases of emergency recanalization of a carotid tonsillar loop dissection using a Pipeline embolization device (PED).OBSERVATIONSTwo patients presented with symptomatic CAD involving tonsillar looping of the cervical internal carotid artery (ICA). Although the tonsillar loop prevented navigation of the carotid and peripheral stent delivery system, a PED was easily navigated and successfully deployed, resulting in successful recanalization of a looped ICA.LESSONSEmergency recanalization of a cervical CAD using a PED is a feasible alternative for treating a cervical CAD associated with tonsillar loops.