MR Brain Screening in ADPKD Patients : To Screen or not to Screen?

BACKGROUND: Adult polycystic kidney disease (ADPKD) still represents a major cause of renal failure and intracranial aneurisms (IA) have a higher prevalence in ADPKD than in the general population. Current guidelines suggest performing brain MRI only in the subjects with a positive familiar history of IAs or subarachnoid hemorrhage (SAH). This is a retrospective case-control analysis to evaluate the usefulness of a MR screening program in ADPKD patients. METHODS: We retrospectively analyzed all ADPKD patients followed in our outpatient clinic between 2016 and 2019 who underwent a brain MRI screening. We evaluated the presence of IAs and others brain abnormalities and compared our results with a non-ADPKD population (n = 300). We performed univariate and multivariate regression analysis to evaluate if general and demographic features, laboratory findings, clinical parameters and genetic test results correlated with IAs or other brain abnormalities presence. RESULTS: Among the patients evaluated 17 out of 156 (13.6%) ADPKD patients had IAs, compared to 16 out of 300 (5.3%) non-ADPKD controls (p < 0.005). Considering ADPKD patients presenting IAs, 12 (70.6%) had no family history for IAs or SAH. Genetic analysis was available for 97 patients: in the sub-population with IAs, 13 (76.5%) presented a PKD1 mutation and none a PKD2 mutation. We found that arachnoid cysts (AC) (p < 0.001) and arterial anatomical variants (p < 0.04) were significantly more frequent in ADPKD patients. CONCLUSION: In our population ADPKD patients showed a higher prevalence of IAs, AC and arterial variants compared to non-ADPKD. Most of the IAs were found in patients presenting a PKD1 mutation. We found a significant number of alterations even in those patients without a family history of IAs or SAH. The practice of submitting only patients with familial IAs or kidney transplantation candidates to MRI scan should be re-evaluated.

Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis.

BACKGROUND AND PURPOSE: The association of arterial tortuosity and connective tissue diseases is widely reported in the literature, but only a few studies were based on a quantitative evaluation of this arterial phenotype, and none of the latter examined the intracranial vasculature. The aim of this study was to evaluate the degree of intracranial arterial tortuosity in patients with Marfan syndrome and those with Loeys-Dietz syndrome, and to assess its usefulness in the differential diagnosis. MATERIALS AND METHODS: We performed a retrospective analysis of 68 patients with genetically confirmed Marfan syndrome (n = 36) or Loeys-Dietz syndrome (n = 32), who underwent at least 1 MRA of the brain at our institution. Fifty-two controls were randomly selected among patients who presented with headache and without any known comorbidity. Tortuosity indexes of 4 intracranial arterial segments were measured on a 3D volume-rendered angiogram by using the following formula: [Formula: see text]. RESULTS: Both Marfan syndrome and Loeys-Dietz syndrome showed a significantly higher tortuosity index compared with controls in all examined vessels. The tortuosity index of the vertebrobasilar system showed an excellent interrater reliability (intraclass correlation coefficient, 0.99) and was the strongest independent predictor of Loeys-Dietz syndrome in patients with connective tissue disease (P = .002), with a 97% specificity for this pathology when its value was > 60. CONCLUSIONS: The tortuosity index of intracranial arteries is an easily calculated and highly reproducible measure, which shows a high specificity for Marfan syndrome and Loeys-Dietz syndrome and may be useful in differentiating these 2 entities.

Neuropsychological profile in Italian children with neurofibromatosis type 1 (NF1) and their relationships with neuroradiological data: Preliminary results.

BACKGROUND: Neurofibromatosis type 1 is a genetic disorder associated with cognitive deficits, learning disabilities and behavioral problems. These domains appear to have a still controversial debated association with local areas of T2-hyperintensities on MRI images, called unidentified bright objects (UBOs). METHODS: A cohort of 36 children (aged 7-11 years) included consecutively, underwent neuropsychological and behavioral assessment to determine their cognitive and neuropsychological profile, and the frequency of specific learning disabilities. MRI examination was used to determine the impact of UBOs' presence, number, and location on the cognitive, neuropsychological and behavioral profile, and also the presence of optic glioma. RESULTS: The mean full intelligence quotient was 104.6; only one child had mild intellectual disability. Forty one percent of children had a diagnosis of specific learning disabilities and reading was mainly involved. Twenty per cent had attention problems. All children had normal scores in visuo-motor and visuo-perceptual tests. UBOs were present in 94.0% of the MRI examinations. Two children had optic glioma. Children with UBOs in a specific location and children with UBOs elsewhere were statistically compared, no one of the location seemed to have an impact on general cognition measured with full intelligence quotient. The thalamus was associated with problems in calculation and striatum with behavioral problems. An inverse relationship between the number of UBOs and the full intelligence quotient was present, but without a statistical significance. CONCLUSIONS: In this study, the specific location of UBOs did not seem to influence the general cognitive profile and also the relationship between their number and the full intelligence quotient was not significant; these results are still controversial in literature. Finally, the presence of UBOs in the thalamus and striatum may represent a neuroradiological pattern that influences performances in calculation and behavior respectively in children with Neurofibromatosis type 1.

Meningeal carcinomatosis causing isolated bilateral symmetric progressive hearing loss.

A 53-year-old man presented with isolated bilateral progressive hearing loss from about 5 months. Fourteen months after onset of this isolated symptom a diagnosis of meningeal carcinomatosis (MC) was made. Isolated bilateral deafness is a rare first manifestation of MC.

Endovascular treatment of vertebrobasilar aneurysms. Occlusion of the vertebral arteries and flow inversion.

In posterior circulation aneurysms, GDC endosaccular occlusion is the treatment of choice, when indicated. This report assessed anatomical, morphological and clinical criteria in the choice of vertebral or basilar artery occlusion in posterior circulation aneurysms, when GDC endosaccular treatment, with or without the "remodelling technique", is not indicated, as in giant or wide-neck aneurysms. Over five years we observed eleven patients harboring posterior circulation aneurysms with no indication for treatment with GDC, or only vertebral occlusion. In our experience, the endovascular occlusion of a single or both vertebral arteries or basilar artery, following a detailed anatomical and clinical assessment, has proved a good, reliable treatment in large or giant vertebrobasilar aneurysms or those without a neck.

[Cranial trauma: the predictability of the presentation symptoms as a screening for radiologic study]. / Trauma cranico: predittività dei sintomi di presentazione come screening per lo studio radiologico.

A prospective study was performed on 4,262 consecutive patients who had had skull examinations for recent head trauma. Clinical signs and symptoms and patient history were correlated with skull fractures and intracranial sequelae as identified on CT studies, in order to evaluate the predictive value of each clinical finding and to identify high-yield referral criteria. Ninety-seven skull fractures (3%) and 32 intracranial sequelae (0.7%) were observed. All the intracranial complications were observed in patients with fractures and with altered consciousness of some degrees (Glasgow Coma Scale score less than 13). Most patients were asymptomatic (41%) or showed "low risk" symptoms (29%): among them, neither fractures nor complications were observed. High-risk clinical signs, mainly expressing basilar fractures (as rhinorrhea, otorrhea, focal neurologic signs, retroauricular hematoma) demonstrated high predictive value (100%) for intracranial sequelae. Other "moderate risk" findings for intracranial injury--i.e. loss of consciousness at any time, antegrade or retrograde amnesia, multiple trauma, and possible skull penetration--showed a high correlation with skull fractures and a slightly lower one with intracranial sequelae. The most predictive finding for brain injury was the depressed level of consciousness: brain injuries were never observed in fully conscious patients; in altered consciousness with GCS 15-13 we observed 4% of skull fractures with no sequelae; at GCS values 12-9, 61% of skull fractures and 20% of sequelae were present, whereas at GCS less than 8, 100% of complicated fracture were observed. The finding of skull fracture showed 33% of predictivity for brain damage, which was, however, always associated with "high or moderate risk" clinical signs. Therefore, the authors suggest some guidelines for the management of patients with recent head trauma, including referral criteria for X-rays or CT studies, based on signs and symptoms with high, intermediate and low risk of developing intracranial sequelae.

[Comparative results in the carotid region. Venous or arterial digital angiography?]. / Risultati comparativi nel distretto carotideo. Angiografia digitale venosa o arteriosa?

A comparative evaluation between Digital Venous (DV) and Arterial (DA) studies of carotid arteries has been carried out in our institution in the last two years. DV study, in our experience, only in fourty percent of the cases shows good details (i.e. of true diagnostic value); this rate decreases to fifteen-twenty of intracranial sector, while DA offers optimal results in eighty percent and more of the patients. DV studies, highly invasive on a pharmacological point of view, based on the contrast medium amount, must be reserved only to surgical follow-up studies and patients with femoral/brachial bilateral occlusion, that involves technical impossibility for arterial catheterization.