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Background and objectives: Pompe disease is a rare metabolic disorder due to lysosomal alpha-glucosidase (GAA) deficiency. It is considered as a multi-systemic disease since, although glycogen accumulation is largely prominent in heart, skeletal and respiratory muscles, other organs can also be affected. As regards the vascular system, few reports have documented cerebrovascular malformations in Pompe patients. The aim of this study was to define the presence and type of intracranial arterial abnormalities in a cohort of late onset Pompe disease (LOPD) patients. Methods: We have studied 21 LOPD patients with cerebral CT angiography (CTA), using maximum intensity projection and volume rendering technique for 3D-image reconstruction. Results: We found intracranial arterial abnormalities in 13/21 patients (62 %), of whom: 2/21 patients (9.5 %) showed an unruptured intracranial aneurysm (respectively 2 and 4 mm), 10/21 (47 %) had a vertebrobasilar dolichoectasia (VBD) and 1/21 a basilar artery fenestration. Signs of lacunar encephalopathy (insular, capsular and frontal subcortical lesions) were detected in 13/21 patients (62 %) and this correlated with the presence of respiratory impairment ( p = 0.017). Conclusions: These findings differ from what has been previously observed in healthy, aged-matched populations and confirm that cerebral arteries abnormalities, mainly involving the posterior circle, are not so rare in LOPD patients and are often accompanied by a lacunar encephalopathy that might represent a hypoxic-ischemic origin. A CTA or an MRA is recommended, in LOPD patients, for early detection of cerebrovascular malformations as they could lead to life-threatening events such as sub-arachnoid haemorrhage or brainstem compression. [ABSTRACT FROM AUTHOR]

The purpose of this report is to present the case of a 75-year-old male affected by right common femoral artery and abdominal aortic aneurysms. His clinical history was also characterised by post-ischaemic cardiomyopathy, arterial hypertension, chronic respiratory disease and peripheral arterial disease. We performed two surgical procedures: right femoral aneurysmectomy and femoro-femoral bypass and subsequently a femoro-femoral crossover bypass plus right femoro-popliteal bypass below the knee. The second operation became necessary in order to treat acute occlusion of the right iliac-femoral arterial axis. The patient developed a progressive and aggressive lower limb post-perfusion syndrome associated to frank peripheral oedema, myocardial stunning, reperfusion arrhythmias, renal failure and respiratory distress. Cutaneous alterations (oedema of the leg, mottled skin and cyanosis of the foot) were more specific compared with Doppler ultrasound that showed the presence of adequate blood flow in the early phase. On the basis of this experience and of pertinent literature, this study represents a challenge for the understanding of the exact mechanism of origin and progression of post-reperfusion syndrome. [ABSTRACT FROM AUTHOR]

Presents information fron a study on the macroscopic diagnosis of a case of thyroid goiter in an eighteenth-century mummy from Comiso, Sicily in Italy. Materials and methods; Results and discussion.