Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma

Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even within the same family. Some people have very mild skin changes, whereas others suffer severe medical complications. The condition usually appears in childhood and is diagnosed if two of the following are present: six or more café-au-lait patches larger than 1.5 cm in diameter, axillary or groin freckling, 2 or more Lisch nodules (small pigmented areas in the iris of the eye), 2 or more neurofibromas, optic pathway gliomas, bone dysplasia, and a first-degree family relative with Neurofibromatosis type 1. The pattern of inheritance is autosomal dominant, however, half of all NF1 cases are 'sporadic' and there is no family history. Neurofibromatosis type 1 is an extremely variable condition whose morbidity and mortality is largely dictated by the occurrence of the many complications that may involve any of the body systems. We describe a family affected by NF1 in whom genetic molecular analysis identified the same mutation in the son and father. Routine MRI showed pontine focal lesions in the eight-year-old son, though not in the father. We performed a four years follow-up study and at follow-up pontine hamartoma size remained unchanged in the son, and the father showed still no brain lesions, confirming thus an intra-familial phenotype variability

Leptomeningitis in a person with radiologically isolated syndrome and latent tuberculosis. A case report with implications for clinical research

A 39-year-old man, followed with serial MRI of CNS for a radiologically isolate syndrome (RIS, a recently described condition considered a subclinical form of MS), was hospitalized for the occurrence of a leptomeningitis. Routine blood tests and contrast enhanced total body CT scan were unremarkable. Cerebrospinal fluid (CSF) examination showed increase of cells (22 mononuclear cells/mm3), albumin (294 mg/L), immunoglobilins G (161 mg/L) and Link Index (1.9), with 17 oligoclonal bands. Microbiological examinations of CSF (including those for Koch’s Bacillus) were negative. The Mantoux reaction and the QuantiFERON test were positive, featuring a latent tuberculosis (TB). The patient started prophylaxis with rifampicin and isoniazid for four months, until a new MRI showed the disappearance of the leptomeningeal enhancement, and the stability of white matter brain and spinal cord lesions. Two other MRI scans showed a new brain Gd-enhancing lesion nine month after anti-tubercular therapy and, after additional six months, new cerebral and spinal cord areas. This case provides the following suggestions about the effects of TB infection and related therapies on the underlying autoimmune status: the infection, while actively present, did not exacerbate the RIS condition; the worsening nine months after the prophylaxis discontinuation might have been the ‘natural’ evolution of RIS condition. Alternative speculative hypotheses include a remote effect of the infection, of isoniazid (that was reported in some cases to trigger MS), or the result of the clearance of the infection itself. Irrespective of the existence of any interaction between RIS and TB infection, It seems important to collect cases with MS-related diseases and concomitant infections, that may provide clues about disease pathogenesis and treatment

Reply to Dr. Takeuchi: PRES after epidural anesthesia

[No abstract available

Dermoid cysts of the asterion. an unusual location for unusual dermoids, radiological findings and neurosurgical implications

Asterion is an uncommon site for lesions, especially dermoid cysts. We report a case series of three asterional intracranial dermoid cysts, which, to the best of our knowledge, have never been described before. Patients presented with non-specific symptoms and underwent surgical excision of the lesions. It is crucial to correctly diagnose intracranial masses and to identify their relationships with surrounding anatomical structures, especially if the location is unusual as the asterion, to plan surgery. The challenge of this tumor location is to preserve the venous drainage system during surgical procedures, because of the contiguity between the asterion and the transverse–sigmoid junction. Rupturing or damaging of the venous drainage system have been proven to be catastrophic because they lengthen surgical time and present dire consequences for patients. In conclusion, it is crucial to familiarize with atypical dermoid presentation to ensure proper diagnoses and to perform adequate imaging for optimal surgical plannin

Successful treatment of cerebral arterial gas embolism following uneventful TBNA

Fibrobronchoscopy is commonly considered a safe procedure with a low major complication rate not including cerebral arterial gas embolism (CAGE) a severe life threatening iatrogenic complication. Several cases of transbronchial needle aspiration (TBNA) has been related with CAGE when patient happens to have the high airway pressure that exceeds the pressure of the pulmonary veins allowing the air to enter the systemic circulation through the left heart. HBOT is the only effective treatment available for CAGE that provides 100% oxygen at high pressure, which accelerates nitrogen reabsorption and improves oxygenation of ischemic tissue. We reported a case of successful treatment with full recovery after early Hyperbaric Oxygen therapy of CAGE induced by an uneventful transbronchial biopsy during fibrobronchoscopy

Clinically integrated neuroanatomy modules using neurosurgery and intraoperative MRI/DTI tractography: their contribution to long-term retention of neuroanatomical knowledge

Neuroanatomy is often considered the part of the human anatomy syllabus students find hardest to study. To motivate them and boost their learning, clinical cases and neurosurgical images, mainly DTI tractographies produced using an intraoperative magnetic resonance imaging apparatus (MRI/DTI), were presented and discussed during integrated second-year neuroanatomy, neuroradiology and neurosurgery lectures over the five-year 2007-2012 period. Anonymous questionnaires, rated on the Likert scale, showed that the students appreciated this teaching procedure. The academic performance (exam marks for neuroanatomy) of those who attended all the integrated lectures, was slightly, though significantly higher than for students who attended the lectures only occasionally or not at all (p=0.04). Moreover, significantly better results were obtained at the 2012 national progress test (focusing on morphology) by students who attended the MRI/DTI-assisted lectures, compared to those who did so in part or not at all and compared to the national average. These results were obtained by students attending the second, third and, in particular, the fourth, fifth and sixth year (p≤0.0001) courses during the five above-mentioned academic years. The early study of real medical cases, including the relative surgical and post-operative phases, if illustrated by a good collaborative interdisciplinary team, can help direct the students positively towards their future professional reality, without any extra expense to the university. In conclusion, interactive learning tools, like our intraoperative MRI/DTI, motivate students and enhance their learning of neuroanatomy. Most probably it improves long-term retention, which appears to prove helpful during the clinical phase of their undergraduate careers

Molecular imaging in atherosclerosis

Atherosclerosis is the major cause of cardiovascular disease, which still has the leading position in morbidity and mortality in the Western world. Many risk factors and pathobiological processes are acting together in the development of atherosclerosis. This leads to different remodelling stages (positive and negative) which are both associated with plaque physiology and clinical presentation. The different remodelling stages of atherosclerosis are explained with their clinical relevance. Recent advances in basic science have established that atherosclerosis is not only a lipid storage disease, but that also inflammation has a fundamental role in all stages of the disease. The molecular events leading to atherosclerosis will be extensively reviewed and described. Further on in this review different modalities and their role in the different stages of atherosclerosis will be discussed. Non-nuclear invasive imaging techniques (intravascular ultrasound, intravascular MRI, intracoronary angioscopy and intravascular optical coherence tomography) and non-nuclear non-invasive imaging techniques (ultrasound with Doppler flow, electron-bean computed tomography, coronary computed tomography angiography, MRI and coronary artery MR angiography) will be reviewed. After that we focus on nuclear imaging techniques for detecting atherosclerotic plaques, divided into three groups: atherosclerotic lesion components, inflammation and thrombosis. This emerging area of nuclear imaging techniques can provide measures of biological activity of atherosclerotic plaques, thereby improving the prediction of clinical events. As we will see in the future perspectives, at present, there is no special tracer that can be called the diagnostic tool to diagnose prospective stroke or infarction in patients. Nevertheless, we expect such a tracer to be developed in the next few years and maybe, theoretically, it could even be used for targeted therapy (in the form of a beta-emitter) to combat cardiovascular disease

Asymmetric posterior reversible encephalopathy syndrome in patient with hyperplastic anterior choroidal artery

We describe a case of asymmetric PRES due to the presence of hyperplastic anterior choroidal artery (AChA) in a man affected by sever hypertension. Posterior reversible encephalopathy syndrome (PRES) has become synonymous with a unique pattern of brain vasogenic edema and predominates in the parietal and occipital regions, accompanied by clinical neurological alterations. Sever hypertension is a risk factor that exceeds the limits of brain autoregulation, leading to breakthrough brain edema. In our knowledge this is the first case reported in literature, in which a similar vascular abnormality is linked to a PRES syndrome

Radiological assessment of dementia: the Italian inter-society consensus for a practical and clinically oriented guide to image acquisition, evaluation, and reporting

Background: Radiological evaluation of dementia is expected to increase more and more in routine practice due to both the primary role of neuroimaging in the diagnostic pathway and the increasing incidence of the disease. Despite this, radiologists often do not follow a disease-oriented approach to image interpretation, for several reasons, leading to reports of limited value to clinicians. In our work, through an intersocietal consensus on the main mandatory knowledge about dementia, we proposed a disease-oriented protocol to optimize and standardize the acquisition/evaluation/interpretation and reporting of radiological images. Our main purpose is to provide a practical guideline for the radiologist to help increase the effectiveness of interdisciplinary dialogue and diagnostic accuracy in daily practice. Results: We defined key clinical and imaging features of the dementias (A), recommended MRI protocol (B), proposed a disease-oriented imaging evaluation and interpretation (C) and report (D) with a glimpse to future avenues (E). The proposed radiological practice is to systematically evaluate and score atrophy, white matter changes, microbleeds, small vessel disease, consider the use of quantitative measures using commercial software tools critically, and adopt a structured disease-oriented report. In the expanding field of cognitive disorders, the only effective assessment approach is the standardized disease-oriented one, which includes a multidisciplinary integration of the clinical picture, MRI, CSF and blood biomarkers and nuclear medicine

White matter hyperintensities and self-reported depression in a sample of patients with chronic headache

White matter hyperintensities (WMH) have been associated with mood disorders in psychiatric patients. In the present study, we aimed to assess whether WMHs are associated with depressive symptoms and different sensitivity of the behavioral inhibition (BIS), and activation (BAS) systems in patients with chronic headache. Participants were 85 adult outpatients (16 men and 69 women) with a diagnosis of chronic headache. All of the patients underwent brain magnetic resonance imaging (MRI) and were administered the BIS/BAS scales and the Center for Epidemiologic Studies Depression Scale. Above 40 % of patients had periventricular WMHs (PWMHs) and almost 98 % had deep WMHs (DWMHs). Patients with PWMHs reported fewer depressive symptoms than patients without PWMHs. Patients with more severe DWMHs (compared with patients with mild or without DWMH lesions) were older and reported lower scores on the drive dimension of the BIS/BAS scales. In multivariate analyses, patients with PWMHs were 1.06 times more likely to report fewer depressive symptoms than patients without PWMHs. WMH lesions in patients with chronic headache were associated with less depression severity