Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study.

BACKGROUND: Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Central nervous system (CNS) manifestations consist mainly of cerebrovascular events. Brain MRI results are often abnormal. PURPOSE: The aim of the study was to describe CNS involvement in a group of Italian patients with AFD. METHODS: Clinical and brain MRI data of 43 patients with AFD (25 men, 41.94+/-10.83 years old and 18 women, 52.48+/-17.50 years old) were analysed retrospectively. 17 male patients and 7 female patients were under treatment with enzyme replacement therapy (ERT). RESULTS: All 43 patients had signs or symptoms of AFD. 16 men (64%) and 13 women (72%) demonstrated CNS involvement, although with varying severity. Overall, 6 men and 5 women had suffered from cerebrovascular accidents with an age at onset of 33.64+/-13.65 years and 53.68+/-11.71 years, respectively. Brain MR images were abnormal in 16/25 men and in 13/16 women. During CNS monitoring, some patients receiving ERT (5/17 men and 2/6 women) demonstrated neurological deterioration, especially those who had presented with cerebrovascular disease already before starting ERT. CONCLUSIONS: The study demonstrated a high frequency of CNS involvement in homozygous and heterozygous AFD patients, often characterised by early age at onset and abnormal brain MRIs. At present, ERT is widely used; however, potential beneficent effects may be disguised by the progression of irreversible pathology in short-term follow-up. Therefore, primary and secondary prophylaxes of cerebrovascular disease are extremely important.

Dynamic stabilometric findings in equilibrium disorders of the elderly.

Equilibrium disorders are frequent symptoms of aging, both on account of the so-called "multisensorial decay" and age-related diseases. Aim of the study was to evaluate the functional integrity of static-dynamic postural control related subsystems (visual, somatosensorial, vestibular), the fundamental postural strategies effected and adaptation to destabilizing inputs, in elderly subjects with otoneurological disorders. From January to November 2003, 40 elderly patients (19 male, 21 female, mean age +/- SD: 69.5 +/- 4.3 years; range: 65-83), with balance disorders, consisting in dizziness or vertigo, have been observed. Otoneurologic and internal case history was collected in all patients, all of whom were submitted to otoscopy, otoneurologic examination, pure-tone audiometry, as well as a specific examination called Equi test. The sensorial analysis, as often occurs in elderly subjects without unbalance, revealed marked impairment of the somatosensorial (85%), compared to vestibular (60%) and visual (40%), subsystems. Longer latencies of motor responses to forward platform translations than to backward translations were observed, even if the symmetry of movements was more evident in the former. Postural adaptation was more frequently impaired during raising of the support (70%) than during lowering. Therefore, in elderly people, somatosensorial impairment, combined with flexor muscle dysfunction, exists. Indeed, extensor responses, although slower than flexor responses, are more correctly performed.

Intracranial Masses with Perilesional Edema: Differential Diagnosis with Perfusion CT.

Perilesional edema (PE) is commonly observed in association with an intracranial mass. PE is thought to be determined by vasogenic effects in the cerebral parenchyma surrounding the mass due to the loss or absence of the blood-brain barrier (BBB) inside the lesion. Alterations in capillary permeability induce extrusion of fluids into the extravascular space around the mass. On Computed Tomography (CT) PE corresponds to an area of low density for the increased water content, outside the margins of the lesion. It is difficult to differentiate PE from areas of parenchymal compressive ischemia and sometimes the two events could be associated. A solitary mass with PE is more commonly discovered on a non-enhanced computed tomography (NECT) study performed for the onset of stable or rapidly progressive neurological symptoms. In such cases, a supplementary CT scan with contrast (CECT) is generally indicated to complete the baseline imaging before MRI. Contrast enhancement is generally present in a mass with PE and it is not specific for differential diagnosis. Perfusion computed tomography (PCT) requires a few minutes in addition to the time needed for CECT. PCT may give information on regional microvascular density, permeability and blood flow, thus it may play a role when tumoral neo-angiogenesis or non-neoplastic altered haemodynamics are suspected. We therefore investigated the utility of PCT in the differential diagnosis of the intracranial solitary masses with PE.

Disappearance of a cerebral arteriovenous malformation after partial endovascular embolisation.

SUMMARY: The authors report the observation of a patient with a Spetzler-Martin grade 3, symptomatic, sulcal cerebral arteriovenous malformation (cAVM) of the left precuneus that after partial, uncomplicated, endovascular embolisation disappeared at 4, 6 and 12 months follow-up. Discussion focuses on the angioarchitectural remodelling of the cAVM over time according to the latest concepts on AVM development and evolution.

Leukoaraiosis, intracerebral hemorrhage, and arterial hypertension.

To investigate whether the observed association of leukoaraiosis with intracerebral hemorrhage is direct or mediated by risk factors, we compared 116 patients with intracerebral hemorrhage confirmed by computed tomography and 155 controls without intracerebral hemorrhage, evaluating the prevalence of leukoaraiosis and vascular risk factors. Leukoaraiosis was observed in 21 (18%) of the 116 patients and in 12 (8%) of the 155 controls (p less than 0.01). Only two (6%) of the 31 patients with lobar hemorrhage had leukoaraiosis on computed tomograms, compared with 17 (24%) of the 71 patients with basal ganglionic hemorrhage (p less than 0.05). Leukoaraiosis was significantly correlated with intracerebral hemorrhage after controlling for age and sex by using multiple logistic regression analysis, while the correlation disappeared after controlling for hypertension. Our results indicate that leukoaraiosis is not an independent risk factor for intracerebral hemorrhage.

Histopathological correlates of leuko-araiosis in patients with ischemic stroke.

A neuropathological study was carried out in 4 cases of ischemic stroke with leuko-araiosis (LA), 3 cases of clinically suspected Binswanger's subcortical arteriosclerotic encephalopathy (SAE) also showing LA, and 3 cases without LA. Unlike the SAE cases, in 3 of the cases in the first group the white matter changes corresponding to LA could not be explained by ischemic mechanisms related to small vessel changes.

Disappearance of cerebral arteriovenous malformations after partial endovascular embolisation: four cases with follow-up.

We report four patients with late angiographic follow-up of spontaneous occlusion of residual cerebral arteriovenous malformation after partial embolisation. Discussion is focused on the possible mechanisms leading to obliteration according to the latest concepts on angioarchitectural remodelling, malformation development and evolution with a brief review of the literature.

Spontaneous petrous carotid artery occlusive dissection treated by local fibrinolysis and stent deployment.

SUMMARY: This paper reports a case of local thrombolytic therapy followed by stenting of the petrous carotid in a young woman with recurrent transient ischemic attacks from spontaneous dissection. A total of four overlapping balloon-expandable stents were delivered in two different sessions one month apart. The procedure resulted in a potentially efficacious treatment for the prevention or reduction of cerebral damages from ischemia. At followup three months later the patient was symptomfree and DSA revealed a delayed proximal small pseudoaneurysm and a carotid-cavernous fistula. At one year follow-up the patient was still symptom-free with unmodified findings at cerebral angiography.

Rhabdomyosarcoma of the petrous ridge. CT and MR imaging in an atypical case with multiple cranial nerve palsy.

The CT and MR findings are reported in a case of biopsy proven rhabdomyosarcoma of the skull base. The tumor presumably originated in a pneumatized petrous ridge and had an atypical presentation of multiple cranial nerve palsy. The lesion exhibited a soft tissue density and a nonexpansile bone destruction on unenhanced CT. On MR imaging the lesion showed homogeneous intermediate signal intensity on T1 weighted images and a high signal intensity on proton density and T2 weighted images. The scanty literature on CT and MR features of rhabdomyosarcoma of the head and neck is reviewed.

Idiopatic spinal cord herniation: a treatable cause of Brown-Séquard syndrome.

We report two cases of thoracic idiopathic spinal cord herniation (ISCH) focusing on the peculiar diagnostic and therapeutic issues posed by this rare disorder. In particular MR evaluation of CSF dynamic with a 2D PC cine-MR technique and demonstration of progressive cord herniation on consecutive MR examinations allowed insight on the differential diagnosis and pathophysiological mechanisms of ISCH.

Utility of balloon-assisted guglielmi detachable coiling in the treatment of cerebral aneurysms. A single center retrospective study.

SUMMARY: Balloon-assisted Guglielmi detachable coiling (BAGDC) is a new technical option developed to allow endovascular treatment of wide-necked aneurysms. Aim of the following work is to report a single center experience of BADGC of aneurysms with assessment of its efficacy and safety. BAGDC of wide-necked aneurysms (SNR close to 1) was retrospectively evaluated in 37 patients (28 females, nine males, mean age: 56.6 yrs, range: 27-81 yrs) who underwent the procedure between january 1999 and january 2002 for a total of 45 procedures on 41 aneurysms.Twenty- nine patients presented with SAH from an acutely ruptured aneurysm. In two patients BAGDC failed whereas 35 patients successfully underwent BADGC (39 aneurysms). Twenty-nine patients (31 aneurysms) were available for angiographic follow- up (mean: 10 mo, range: 3-24 mo). At the last angiographic follow-up 29/33 aneurysms (87%) resulted stable and occluded (22 aneurysms with dense and seven with loose packing of the sac and the neck), two aneurysms showed regrowth, one aneurysm showed a neck remnant and another one a sac and neck remnant. Complications directly related to the procedure occurred in five patients (three perforations, one thromboembolism, one femoral AV) with a mortality and morbility rate of 2.7 and 5.4 respectively. BAGDC is a promising adjunct to treatment of wide-necked aneurysms broadening the spectrum of indications for endovascular treament of challenging aneurysms.

Percutaneous transluminal cerebral angioplasty and stenting in acute vertebrobasilar ischemic stroke. Report of two cases.

SUMMARY: Reports of cerebral transluminal angioplasty and stenting in patients with vertebrobasilar ischemic stroke are scanty. Herein we report on the use of "monorail" coronary balloon angioplasty and stent balloon mounted catheters in two patients with acute vertebrobasilar ischemic stroke, focussing on the differences and possible advantages of the "monorail" technique in comparison with the "over-the-wire" technique. In both patients, the clinical picture was characterized by progressive brainstem symptoms followed by acute loss of consciousness related to an atherothrombotic occlusion and subocclusion of the dominant intracranial vertebral artery, respectively. In one patient, superselective thrombolytic therapy and balloon angioplasty resulted in a dissection flap at the vertebrobasilar junction. The latter was treated by successful deployment of a coronary stent. In the other patient, the subocclusive lesion was directly treated by angioplasty and stenting without thrombolytic therapy. The clinical outcome was poor for one patient ("locked in" syndrome) while the other had a complete clinical recovery. In acute atherothrombotic vertebrobasilar stroke transluminal cerebral angioplasty and stenting may be successfully performed allowing vessel recanalization.

[Brain-stem auditory evoked potentials (BAEPs) and computerized tomography (CT scans) in patients with reversible ischemic attacks (RIAs) in the vertebro-basilar system (author's transl)]. / Potenziali evocati acustici del tronco encefalico (BAEPs) e tomografia computerizzata (T.C.) negli attacchi ischemici reversibili (RIAs) del sistema vertebro-basilare.

BAEPs recordings and brain CT Scans have been conducted in 11 patients with RIAs of the vertebral-basilar system. Five patients presented recurrent transient ischemic attacks (TIAs) completely clearing in 24 h, while in the other patients a full recovery took place over a longer period, within 3 week (RINDs). Each patient underwent BAEPs recording, as well CT Scans, EEG and oto-neurological examination, 7-20 days after the last RIA, when all signs and symptoms had disappeared. Both ears were subsequently stimulated and bipolar EEG activity was recorded from Cz and the mastoid electrode ipsilateral to stimulation. At least two sets of 1500 averaged responses from each ear were added. The I-III, III-V, I-V interpeak latencies (IPLs) as well as the IV-V/I amplitude ratio were measured and compared with the values obtained in a control group. Increased IPLs were detected in 4 cases of the TIA group and in 2 of the RIND group. Amplitude ratio was always normal. Any positive information provided by CT Scan showed cerebral atrophy in 4 patients with TIAs and in 1 patient with RIND. BAEPs recording is a relatively simple, non-invasive neurophysiologic test, which can give objective evidence for brainstem dysfunction in vertebro-basilar RIAs.

[Bone scintiscanning in the diagnosis and follow-up of breast carcinoma]. / La scintigrafia ossea nella diagnosi e nel "follow-up" del carcinoma mammario.

Bone scans with Tc + 99m phosphate were performed in 87 patients with histological diagnosis of breast cancer, in order to evaluate whether this technique was suitable in detecting small metastasis both at first staging and in follow-up. The scans were considered as: a) "malignant", when an isotope uptake in usually inactive sites and/or an increased uptake in normally active areas were demonstrated; b) "equivocal", when the uptake in normally inactive and/or in normally active sites was only moderately increased; c) "benign", when only slight uptake increase in normally active structures was detectable. The scans have been carried out before or soon after mastectomy (early scans), and repeated at 6 month intervals (N+ patients and/or malignant or equivocal scans) or at 12 month intervals. A significantly greater incidence of malignant scans was observed in stages 2 and 3 as compared to stage 1, and in stage 4 as compared to all the other stages, as well as in premenopause versus postmenopause patients.