Background
Ornithine transcarbamylase is an enzyme of the urea cycle, which produces urea from ammonia. Although ornithine transcarbamylase deficiency mainly occurs as a severe neonatal‐onset disease, a late‐onset form that could become symptomatic from infancy to adulthood is also known.
Case presentation
A 34‐year‐old man presented with sudden onset of abnormal behavior, lethargy, and hyperammonemia (108 µmol/L). He had recently increased daily protein intake, which suggested urea cycle disorder. After initiation of protein‐restricted diet and treatment with arginine and sodium phenylbutyrate, his symptoms resolved, along with a decrease in the ammonia level. An R40H(c.119G > A) mutation in the
OTC
gene was identified.
Conclusion
Awareness of adult onset ornithine transcarbamylase deficiency in a patient with acute psychiatric symptoms due to hyperammonemia is important.
Cavernous internal carotid artery (ICA) aneurysm complicated by simultaneous and spontaneous formation of thromboses in the aneurysm and the parent artery is a rare clinical condition. Although the majority of patients have good outcomes, some patients experience severe ischemic stroke. Here, we report a case of symptomatic large cavernous ICA aneurysm complicated by rapid growth of an intra-aneurysmal thrombosis with simultaneous parent artery thrombosis. A 68-year-old female presented with sudden-onset diplopia, right ptosis, right conjunctival hyperemia, and paresthesia of the right face. Magnetic resonance imaging (MRI) and digital subtract angiography (DSA) revealed the presence of a large partially thrombosed aneurysm in the cavernous portion of the right ICA. We planned endovascular embolization using a flow-diverting (FD) stent. Dual-antiplatelet therapy (DAPT) with aspirin and clopidogrel was started 2 weeks prior to treatment. Although the neurological state was stable, DSA conducted on the day of the endovascular treatment showed rapid growth of an intra-aneurysmal thrombosis and de novo thrombosis in the parent artery. Direct aspiration was performed via a distal support catheter with proximal blood flow arrest using a balloon-guide catheter, and the FD stent was successfully deployed. The patient's symptoms improved postoperatively and DSA obtained 12 months after the procedure confirmed complete occlusion of the aneurysm. Although the exact mechanism of simultaneous thrombosis formation of the aneurysm and its parent artery remains unclear, it is important to recognize that rapid growth of the thrombosis increases the risk of ischemic stroke.
Objective: We report the mechanical thrombectomy (MT) of posterior circulation large vessel occlusion (pc-LVO) in which the transradial approach (TRA) was selected as an initial approach route to reduce the duration of treatment.Case Presentation: We performed MT using the TRA for four patients with pc-LVO between November 2015 and March 2017. The TRA was used as an initial approach route in patients in whom preoperative MRI showed that the right vertebral artery (VA) was predominant. In all patients, the procedure could be accomplished without changing the approach route. Thrombolysis in Cerebral Infarction (TICI) 2b or better recanalization was achieved in all patients (100%), and TICI 3 recanalization in three patients (75%). Mean time from radial artery puncture to initial intracranial angiography and to the effective recanalization was 7.3 ± 1.5 and 28.8 ± 6.2 minutes, respectively. There was no complication at the site of puncture.
Conclusion:Recanalization was promptly and effectively achieved by the MT of pc-LVO using the TRA. The results suggest that TRA can be utilized as an initial access route in patients in whom an approach to the right VA is possible.
Reversible cerebral vasoconstriction is a very rare complication after carotid artery stenting (CAS). It has been reported to occur more than several hours after CAS and to have a good clinical course. A 73-year-old man underwent CAS for a high-grade symptomatic stenosis of his left carotid artery. Immediately after CAS, he had consciousness disturbance and right hemiparesis. We first suspected hyperperfusion syndrome, but antihypertensive therapy exacerbated his symptoms. On repeated postoperative angiography, the middle cerebral artery (MCA) appeared to become progressively narrower. Perfusion computed tomography indicated hypoperfusion in the left MCA territory, so we diagnosed the patient with ischemic symptoms due to hypoperfusion associated with MCA vasoconstriction. Although these findings were temporary, right weakness and cognitive dysfunction lingered and caused severe disability. As vasoconstriction after CAS may result in a poor outcome, it must be promptly distinguished and treated accordingly.
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