We studied 19 women, heterozygous for adrenoleukodystrophy (ALD) in whom the carrier status was demonstrated by abnormally high plasma levels of very-long-chain fatty acids. Clinical examination revealed slight neurological signs in two patients. Clear-cut neurological deficits in three, and it was fully normal in the remaining 14. All subjects underwent motor evoked potential (MEP) and somatosensory evoked potential (SEP) studies. Seventeen out of 19 subjects underwent brain MRI which demonstrated various degrees of abnormality in one asymptomatic and five symptomatic subjects; SEPs and MEPs revealed CNS involvement in 12 and 8 out of the 19 subjects, respectively. Symptomatic patients showed severe neurophysiological abnormalities, whereas milder but unequivocal EP abnormalities were found in seven of the 14 patients with normal clinical examination. Our data thus suggest CNS involvement in the majority of the ALD carriers, evident also in preclinical stages and progressively severe. The possibility of assessing different degrees of neurological involvement could be relevant for therapeutical purposes. Moreover, neurophysiological studies could provide the only objective marker of functional nervous system involvement, e.g. in order to monitor the efficacy of treatment, and in clinically and radiologically silent cases.
A total of 78 pregnant patients who had previously been studied by ultrasound (US) underwent magnetic resonance (MRI) because of suspected fetal abnormality. The first 20 cases were performed using fetal curarization. Even in the 27 cases in which the MR examination concerned other body regions, a brain study was always performed to analyze the normal anatomy at different gestational ages. There is a brief discussion on normal MRI anatomy of the fetal brain. There were 45 studies that concerned central nervous system pathology, and the most frequent malformative and neoplastic disorders were revealed. A comparison between MRI and US is proposed for each. In conclusion, MRI can be regarded as a complementary method that can be helpful in the rare cases when the US diagnosis is doubtful.
Hereditary Haemorrhagic Teleangiectasia (HHT) is a vascular disorder of angiogenesis transmitted in an autosomal dominant pattern, characterised by heterogeneity in clinical manifestations. One of the most important organ involved is lung, including pulmonary arteriovenous malformations (PAVM). PAVM occur in 20 to 30% of the HHT population and recently are considered a marker of disease. PAVM are direct artery-to-vein connections with low pressure and without an interveining capillary bed. PAVM are classified as simple (supplied by one feeding artery) or complex (receiving blood supply from two or more feeding artery). According to the international reports, treatment it's recommendable for all PAVM with feeding vessels 3mm or larger, in order to reduce the risk of cerebral ischaemia and neurologic manifestations frequently attributed to paradoxical embolisation. Transcatheter embolotherapy of PAVM is a form of treatment based on occlusion of the feeding artery to a PAVM by using platinum coils or detachable balloons. The technique of coil embolisation involves the exact localisation of PAVM by pulmonary angiography followed by superselective percutaneous caheterisation of feeding artery obtained by using a dedicated 7F guiding catheter, which coaxially allocates a 5F hydrophilic catheter advanced in order to perform both superselective angiography of feeding artery and embolisation itself. Inside the 5F catheter the platinum coils are advanced using a .035'' guide-wire and released until an optimal occlusion of feeding artery is achieved. At the end of the procedure angiographic control is performed in order to verify the occlusion of feeding artery. The use of platinum coils is preferable over detachable balloons when feeding artery are greater than 7 mm in diameter and have irregular anatomical configuration. On the other hand, the principal advantage of using detachable balloons is that the balloon itself can be deflated and repositioned if necessary. Transcatheter embolotherapy is technically safe and clinically effective and may represent the primary choice of treatment in HHT patients. On the other hand the most common complications of this treatment (pleurisy and air embolism) can be prevented by using some tips during the embolisation procedure like "anchor technique," "scaffold technique" and "balloon assisted technique." Cerebral arteriovenous malformations (CAVM) are present in 10-20% of patients with HHT and multiple in 50% of cases. Cortical surface is the most frequent localisation. Angiography is needed to diagnose all CAVM and to clarify the angioarchitecture of the lesion. In HHT CAVM are usually either micro-AVM, with a nidus not bigger than 1 cm, or small AVM, with a nidus between 1 and 3 cm. Quite frequently there are lesions characterised by arteriovenous fistulas. In the three patterns of CAVM usually found in HHT, small AVM are the most risky for bleeding although the risk is lower than that associated with sporadic ones. It is estimated from 0.38 to 0.69% per year in spite of the general ...
Introduction Considerable connections between migraine with aura and cortical spreading depression (CSD), a depolarization wave originating in the visual cortex and traveling toward the frontal lobe, lead to the hypothesis that CSD is underlying migraine aura. The highly individual and complex characteristics of the brain cortex suggest that the geometry might impact the propagation of cortical spreading depression. Methods In a single‐case study, we simulated the CSD propagation for five migraine with aura patients, matching their symptoms during a migraine attack to the CSD wavefront propagation. This CSD wavefront was simulated on a patient‐specific triangulated cortical mesh obtained from individual MRI imaging and personalized diffusivity tensors derived locally from diffusion tensor imaging data. Results The CSD wave propagation was simulated on both hemispheres, despite in all but one patient the symptoms were attributable to one hemisphere. The CSD wave diffused with a large wavefront toward somatosensory and prefrontal regions, devoted to pain processing. Discussion This case‐control study suggests that the cortical geometry may contribute to the modality of CSD evolution and partly to clinical expression of aura symptoms. The simulated CSD is a large and diffuse phenomenon, possibly capable to activate trigeminal nociceptors and to involve cortical areas devoted to pain processing.
IntroduzioneI primi lavori sull'uso della risonanza magnetica in gravidanza per lo studio del feto compaiono in letteratura agli inizi degli anni '80 26.32,33,34,49,51. Il principio, sin dagli albori della sperimentazione sulla RM fetale, e sempre stato quello di una posizione subalterna agli ultrasuoni, il cui ruolo fondamentale e primario nella diagnostica per immagini prenatale non e mai stato messo in discussione 10 • Tuttavia i promotori piu attivi nell'avviare la metodica RM in gravidanza furono proprio i ginecologi ecografisti piu esperti, consci della necessita, in alcune circostanze diagnostiche piu complesse, di un approfondimento diagnostico alle comuni indagini ecografiche. In passato infatti nessuna altra metodica per immagini era stata proponibile per l'effetto lesivo sui prodotto del concepimento, subito smentito per la RM da studi in vivo e in vitro 27,48.52.53 . Il prima grande problema che si dovette affrontare concerneva ovviamente la degradazione delle immagini legate ai movimenti feta1i e la soluzione fu la curarizzazione fetale eco-guidata mediante iniezione endo-venosa transfunicolare o intra-muscolare di un farmaco curarico bloccante le placche neuro-muscolari, pratica gia ampiamente nota agli ecografisti per tutte le procedure interventistiche intra-uterine eco-guidate 3 1 • 42 • 43 • 44 • Ma questa e una procedura invasiva che per quanta sicura in mani esperte non e del tutto priva di rischi, pertanto l'entusiasmo inizale per la procedura progressivamente si raffreddo.Con il progredire della tecnologia RM tuttavia, soprattutto con l'introduzione di sequenze di impulso sempre piu veloci, la RM fetale comincio ad essere nuovamente eseguita, senza curarizzazione fetale e mettendo in opera alcuni semplici, ma efficaci stratagemmi per ridurre al minima l'attivita fetale.Fra questi il piu importante e il digiuno materna per le 24 ore precedenti l'esame RM dal momento che l'ipoglicemia fetale e dimostrato indurre una riduzione dell'attivita fetale. Anche il decubito laterate sinistro della paziente durante l'indagine riduce gli artefatti da movimenti fetali e da movimenti respiratori materni 11 ' 24 ' 35 • Il data che tuttavia sicuramente ha data maggiore impulso alla RM fetale proviene dalla nuova generazione di sequenze di impulso incentrate sulla differente filosofia di "riempimento" dello spazio K dalle sequenze turbo Spin Echo (tSE) alle turbo Gradient Echo (tORE) fino alle Echo Planar (EPI) 22.28,29,38,40,5o. Pertanto negli ultimi due anni si e andato riscrivendo non soltanto il protocollo di indagine della RM fetale con la possibilita di ottenere immagini nitide nell'ordine dei centesimi di secondo 23 ma anche l'anatomia dei diversi organi e soprattutto del sistema nervosa centrale con iniziali valutazioni per quanta si riferisce alia volumetria di alcuni organi e apparati con la possibilita di seguire e riprodurre sotto una nuova ottica i processi embriologici. Sotto questo profilo di eccellente valore sono infine i dati provenienti da quella che puo essere considerata la componente...
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