The present case report was aimed at identifying the molecular profile characteristic of a primitive neuroectodermal tumor (PNET) in a 3-year-old child affected by a lesion localized in the cerebellar region. The histological diagnosis was medulloblastoma. In vivo single voxel 1 H magnetic resonance spectroscopy (MRS) shows high specificity in detecting the main metabolic alterations in the primitive cerebellar lesion; a very high amount of the choline-containing compounds and very low level of creatine derivatives and Nacetylaspartate. Ex vivo high resolution magic angle spinning (HR-MAS) 1 H magnetic resonance spectroscopy, performed at 9.4 Tesla on the neoplastic specimen collected during surgery, allows for the unambiguous identification of several metabolites giving a more in-depth evaluation of the metabolic pattern of the lesion. The ex vivo HR-MAS MR spectra show that the spectral detail is much higher than that obtained in vivo and that, for example, myo-inositol, taurine and phosphorylethanolamine contribute to the in vivo signal at 3.2 ppm, usually attributed to choline-containing compounds. In addition, the spectroscopic data appear to correlate with some morphological features of the medulloblastoma. Consequently, the present study shows that ex vivo HR-MAS 1 H MRS is able to strongly improve the clinical possibility of in vivo MRS and can be used in conjunction with in vivo spectroscopy for clinical purposes.
AbstractThe spectrum of orbital inflammatory diseases ranges broadly from specific diseases as connective tissue disorders, thyroid ophthalmopathy to non-specific inflammations, which may involve one or multiple structures of the orbit and/ or the surrounding sinus. Idiopathic orbital myositis (IOM) may be a localized process or it can be secondary to systemic diseases. We report 4 patients affected by IOM; in all relapsing diplopia was the main complaint, associated with orbital pain in 3 and with abnormal visual evoked responses in 2. Computed tomography (CT), magnetic resonance imaging (MRI) supported the diagnosis revealing enlargement, altered signal intensity of affected muscles. Repeated MRI scans and extensive laboratory examinations comprising of the search for a remote malignacy, lymproliferative, connective tissue diseases, thyroid ophthalmopathy were necessary to confirm the diagnosis. Oral or/and intravenous steroids were main treatments; relapses often occurred when steroid was tapered down. Intravenous immuneglobulins and azathioprine was used in one refractory case
Sudden deafness is acute onset of impaired hearing which develops within hours to few days. The commonly accepted audiometric criterion is a decrease in hearing of ≥ 30 dB, affecting at least three consecutive frequencies. Hearing loss is thought to involve several causative factors, including internal ear circulatory disturbances. We report the case of a female with an internal carotid artery (ICA) pseudoaneurysm in the distal cervical tract and unilateral sudden sensorineural hearing loss (SSNHL). As putative risk vascular factor, the patient had history of migraine since youth. Extensive screenings for autoimmune, rheumatic diseases, virological, and microbiological infections were negative. The patient denied recent cervical trauma. Furosemide and oral prednisone were given with initial benefit and withdrawn in 3 weeks. The patient experienced short-lasting episodes of headache, tinnitus, vertigo. Five weeks after first onset, she underwent magnetic resonance imaging (MRI) angiogram which revealed fusiform dilatation of left ICA in the cervical tract. It can be proposed, but it remains to be proved, that the pseudoaneurysm of the cervical ICA plays a role in the patient SSNHL in relation to turbulent flow or thromboembolism of branches to the inner ear.
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