Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report.

The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) seems to explain a part of the development of the phenotype. Not all cases show the same alterations or meet the classic diagnostic criteria, and few have undergone genetic analysis. We present a case with a new variant in this gene and an update of the literature on this syndrome with the aim of improving the diagnosis and follow-up of these patients.

CT angiography for diagnosis of carotid near-occlusion: a digital subtraction angiography validation study.

INTRODUCTION: Carotid near-occlusion (CNO) is a variant of severe stenosis where there is a distal luminal collapse of the internal carotid artery (ICA) beyond a tight stenosis. This study aimed to validate new visual extracranial diagnostic CT angiography (CTA) criteria, for the diagnosis of CNO. The new criteria include distal ICA diameter smaller than contralateral ICA and distal ICA diameter less than or equal to the ipsilateral external carotid artery (ECA). We also assessed the previously described CTA criteria: stenosis ≤ 1.3 mm, ipsilateral distal ICA ≤ 3.5 mm, ipsilateral distal ICA/contralateral distal ICA ratio ≤ 0.87, ipsilateral distal ICA/ipsilateral ECA ≤ 1.27. METHODS: Fifty-eight patients with ICA stenosis (including the near-occlusion variant) or occlusion on digital subtraction angiography (DSA) were included. These patients had DSA and CTA studies completed within 30 days of each other. DSA was considered the reference test. Two neuroradiologists blinded to the DSA results assessed the CTA images and evaluated the new and previously published CNO diagnostic criteria. RESULTS: Twenty-eight CNO were identified with DSA. The "distal ICA diameter less than or equal to the ipsilateral ECA" criterion had 79% sensitivity and 83% specificity with excellent interobserver agreement (kappa = 0.80), while three or more of the previously published criteria reached 82% sensitivity and 90% specificity, with a good interobserver agreement (kappa = 0.64). CONCLUSIONS: CT angiography may be useful for CNO diagnosis. The new visual diagnostic criteria provide acceptable results of sensitivity and specificity with an excellent interobserver agreement. However, false-negative and positive results persist.

Torcular herophili and lateral sinus thrombosis: An atypical presentation of Lemièrre's syndrome.

Lemièrre's syndrome (LS) is an uncommon disease characterized by septic thrombophlebitis of the jugular vein in the context of otorhinolaryngologic infections. These patients are often young and the pharyngotonsillar infection is the most frequent primary focus, but other foci like acute otitis media or otomastoiditis have been described. Although the internal jugular vein is the most commonly affected site, a few case reports have been published with thrombosis of other veins, such as the facial vein or transverse sinus. We report the case of a 93-year-old woman with an atypical presentation of LS presenting with thrombophlebitis of the internal jugular vein, transverse sinuses and Herophili torcula after an acute otitis media complicated with acute otomastoiditis. Infectious cerebral venous thrombosis (CVT) is rare and accounts for 6-12% of the total in large adult series and is usually associated to otorhinolaryngologic infections. CVT is an atypical presentation of LS that can be potentially lethal, especially during the acute phase. For this reason, clinical suspicion and early treatment are vital to improve the prognosis of these patients. Although surgical treatment is recommended in cases of LS complicated with CVT, conservative management with antibiotics and anticoagulation lead to ad integrum restitutio without neurological sequelae in our case, suggesting that surgical treatment may not be necessary in all cases of LS complicated with CVT.

Equine pericardium-covered stenting in post-traumatic pseudoaneurysm of cavernous internal carotid artery.

We report a case of traumatic intracranial carotid artery pseudoaneurysm treated with an equine pericardium-covered stent. The patient was admitted to the Emergency Department after sustaining severe polytrauma in a motor vehicle accident. A cavernous carotid pseudoaneurysm was detected after an episode of massive epistaxis that required emergent nasal packing. Treatment with parent vessel sacrifice was ruled out after an unfavourable balloon test occlusion. We opted for an equine pericardium-covered stent as a means to immediately seal the wall defect in the setting of massive bleeding secondary to an unstable lesion. We describe the potential benefits and drawbacks of these prostheses and the technical difficulties encountered in this particular case. To our best knowledge, this is the first published case report on a post-traumatic intracranial internal carotid artery pseudoaneurysm successfully treated with an equine pericardium-covered stent.

Embolization through the thyrocervical trunk: vascular anatomy, variants, and a case series.

BACKGROUND AND PURPOSE: The thyrocervical trunk (TCT) is the second ascending branch of the subclavian artery. It is considered a 'border territory' between interventional vascular radiology and interventional neuroradiology because it gives rise to branches both cervical and to the upper limbs. We describe the TCT branches anatomy, the most frequent variants, and expose eight endovascular procedures performed through the thyrocervical trunk. METHODS: A retrospective review of all the interventional radiology procedures carried out through the TCT in our tertiary care center from August 2014 to January 2017 is presented. RESULTS: A total of eight endovascular procedures through the TCT including six preoperative embolizations: three paragangliomas, a cervical vertebral metastasis, a cervical vertebral aneurysmal bone cyst, and a very rare case of nerve root extradural cervical hemangioblastoma, as well as two emergency embolizations: a patient with a cervical traumatic active bleeding hematoma and a recurrent hemoptysis in a single ventricle patient. CONCLUSIONS: A correct knowledge of the vascular anatomy, anatomical variants, and anastomosis (especially with the anterior spinal artery) of the TCT is essential for a safe embolization, both preoperatively and on an emergency basis. In cases of recurrent hemoptysis and severe lower-neck injuries, the TCT should always be reviewed.