A. Carella

Metabolic Changes in Neuronal Migration Disorders: Evaluation by Combined MRI and Proton MR Spectroscopy

Summary: Purpose: To assess the role of 1H‐magnetic resonance spectroscopy (MRS) in detecting biochemical abnormalities in neuronal migration disorders (NMDs).

Topographic and dipolar analysis of laser-evoked potentials during migraine attack.

Objective.—The aim of this study was to perform further evaluation of laser‐evoked potentials (LEPs) during migraine attacks using multichannel recording and topographic analysis. Specifically, this study aimed to confirm the pattern previously observed in acute migraine, while also defining the components of LEPs that are mainly modified during headache, as well as the correlation between features of LEPs and clinical variables. In addition, we aimed to conduct a dipolar source analysis of the main LEP waves in migraine patients to check the variability in the source location of LEPs during acute migraine.

Wernicke's encephalopathy induced by total parenteral nutrition in patient with acute leukaemia: unusual involvement of caudate nuclei and cerebral cortex on MRI.

Abstract We report a 13-year-old girl with leukaemia and Wernickes encephalopathy induced by total parenteral nutrition. MRI showed unusual bilateral lesions of the caudate nuclei and cerebral cortex, as well as typical lesions surrounding the third ventricle and aqueduct. After intravenous thiamine, the patient improved, and the abnormalities on MRI disappeared.

Double fenestration of the extracranial vertebral artery.

SummaryThis is a case report of an angiographically demonstrated double fenestrtion of the extracranial vertebral artery found at the same level.

Paroxysmal dystonia with thalamic lesion in multiple sclerosis

Abstract Paroxysmal dystonia (PD) is a usually painful, unilateral dystonic posture, precipitated by voluntary movement, tactile stimulation, startling noise or hyperventilation. We describe two cases of paroxysmal dystonia in multiple sclerosis, both with a critically localized lesion in the thalamus, contralateral to the paroxysmal symptoms. Only one other case of paroxysmal dystonia with a demyelinated lesion of the thalamus has been reported previously.

Brain abscess: A need to screen for pulmonary arteriovenous malformations

Background: Pulmonary arteriovenous malformations (PAVMs) are direct connections between an artery and a vein in the pulmonary circulation associated with hereditary hemorrhagic telangiectasia in up to 88% of cases. Patients with PAVMs are at increased risk of brain abscess (BA). This study aimed to provide preliminary data on the prevalence of PAVMs among BA patients. Methods: Administrative hospital discharge forms were used to identify patients with BA; possible PAVM patients were screened. Results: 126 patients with BA were identified. Two patients had undiagnosed PAVMs at the time of admission for BA. The age-adjusted incidence of BA was 6.3 cases/1 million/year, with a male:female ratio of 2.0. Conclusion: Although PAVMs are rare conditions, they play a role in the development of BA. PAVMs are usually not recognized at the time of BA, thus exposing patients to life-threatening risks.

Diagnostic imaging in the study of visceral involvement of hereditary haemorrhagic telangiectasia

Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal-dominant vascular disease characterised by mucocutaneous or visceral angiodysplastic lesions. Its diagnosis is exclusively based on clinical criteria. The brain, lungs and liver, in growing order of prevalence, are the most frequently involved organs. Diagnostic imaging based on ultrasound (US), computed tomography (CT), magnetic resonance imaging (MRI) and digital subtraction angiography (DSA) has a fundamental role in detecting visceral involvement in HHT patients and is therefore crucial for the prognostic assessment and therapeutic approach. Arteriovenous shunts are the most common cerebrovascular malformations (CVMs). MRI and CT angiography are the methods of choice for diagnosing cerebral involvement, and it is debated whether MRI could be considered as a screening examination on account of its noninvasiveness. Pulmonary arteriovenous malformations, diffuse telangiectases or high-flow, low-pressure shunts between pulmonary arteries and veins can be studied with contrast-enhanced US, but multidetector CT seems to provide the most comprehensive evaluation of their angioarchitecture, whereas angiography has a predominant role in treatment. Liver involvement is frequent and characterised by the presence of intrahepatic shunts, disseminated intraparenchymal telangiectases and other vascular lesions. US is useful for detecting hepatic lesions but should be completed by more accurate imaging methods such as multidetector CT and MRI.RiassuntoLa telangiectasia emorragica ereditaria (HHT), o malattia di Rendu-Osler-Weber, è un disordine vascolare ereditario, caratterizzato dalla comparsa di lesioni angiodisplasiche mucocutanee e viscerali, la cui diagnosi si basa esclusivamente su criteri clinici. L’encefalo, i polmoni ed il fegato sono, in ordine crescente di prevalenza, le sedi viscerali più frequentemente coinvolte. La diagnostica per immagini, mediante gli ultrasuoni (US), la tomografia computerizzata (TC), la risonanza magnetica (RM) e la angiografia (DSA), ha un ruolo cruciale nella diagnosi del coinvolgimento viscerale nei pazienti affetti da HHT ed è, pertanto, fondamentale nella valutazione prognostica e nella impostazione terapeutica. Tra le malformazioni vascolari cerebrali gli shunt arterovenosi costituiscono l’alterazione più frequente. La RM e la angio-TC sono le metodiche di scelta nella diagnosi dell’interessamento cerebrale, ed è dibattuto se, per la scarsa invasività, la RM sia da proporre come metodica di screening. Le malformazioni arterovenose polmonari, telangiectasie diffuse o fistole tra arterie e vene polmonari, possono essere ricercate con US con MdC, ma la TC multidetettore appare l’indagine più completa per la valutazione della loro angioarchitettura mentre l’angiografia mantiene un ruolo prevalentemente terapeutico. L’interessamento epatico è frequente e caratterizzato dalla comparsa di fistole arterovenose, telangiectasie intraparenchimali ed altre alterazioni vascolari. Gli US sono utili nella ricerca delle lesioni epatiche, ma devono essere integrati da indagini più accurate quali la TC multidetettore e la RM.

Influence of MTHFR Genotype on Contingent Negative Variation And MRI Abnormalities in Migraine

Background.—The MTHFR C677T genotype has been associated with increased risk of migraine, particularly of migraine with aura (MA) in selected clinical samples and with elevated homocysteine. The hyper‐homocysteinemia may favor the vascular and neuronal mechanism underlying migraine, and the risk of stroke.

Ischaemic stroke in progressive systemic sclerosis

Abstract.Progressive systemic sclerosis (PSS) or scleroderma is a multisystem disease affecting the skin, lungs, myocardium, kidneys and gastrointestinal tract. Primary involvement of cerebral arteries in PSS has been reported but is very rare. A 61–year–old woman suffering from scleroderma for six years was hospitalised for two subsequent episodes of transient acute dysarthria and left hemiparesis. After five hours from the first onset of symptoms, she was submitted to brain magnetic resonance (MR) protocol that showed a right subinsular ischaemic lesion and whole right middle cerebral artery (MCA) territory hypoperfusion. Intracranial and epiaortic MR angiography reported a focal stenosis in the M2 portion of MCA. She was immediately treated with i.v. high dose steroids and oral acetylsalicylic acid. At one–month follow up, MR findings were confirmed. We have documented a cerebral infarct in a PSS patient. In our opinion, the ischaemic stroke was caused by a localised autoimmune angiopathy.

An unusual association of intracranial aneurysms and oesophageal duplication in a case of Klippel-Trenaunay syndrome.

Abstract The Klippel-Trenaunay syndrome (KTS) is a congenital disorder resulting from a mesodermal abnormality, characterised by cutaneous capillary haemangiomas, hypertrophy of bone and soft tissues and varicose veins. The presence of intracranial aneurysms has rarely been described, while oesophageal duplication has not been reported previously. We describe a patient with the KTS with both there additional abnormalities, which could be explained by a postulated mosaic gene abnormality.