Evidence of white matter involvement in SCA 7.
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Biomedical subjects
Publications and source records attributed to Tommaso Tartaglione.
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OBJECTIVE: To investigate the role of magnetic resonance imaging (MRI) in the diagnosis of sudden sensorineural hearing loss (SSNHL). METHODS: Fifty-four consecutive patients affected by SSNHL were investigated using brain MRI. MRI was performed with an eight-channel phased-array head coil to study the entire audiovestibular pathway and the whole brain. The protocol study consisted of a high-resolution study of the temporal bone, internal auditory canal (IAC), cerebellopontine angle (CPA), and brainstem combining 2 mm thin-slice axial T(2)-weighted two-dimensional fast spin echo (FSE) and fluid-attenuated inversion recovery (FLAIR) sequences, pre- and postcontrast (gadolinium-diethylenetriamine pentaacetic acid) administration fat-suppressed axial T(1)-weighted two-dimensional FSE sequences, and a T(2)*-weighted three-dimensional Fourier transformation-constructive interference in steady state sequence (FT-CISS) , with 0.4 mm ultrathin partitions. The rest of the brain was studied with a 4 mm axial T(2)-weighted FLAIR sequence. RESULTS: Thirty-one of 54 (57%) cases of SSNHL presented with MRI abnormalities. In 6 of 54 cases, the detected abnormality was directly correlated to the clinical picture (2 labyrinthine hemorrhage, 1 cochlear inflammation, 1 acoustic neuroma, 1 arachnoid cyst of the CPA, and 1 case of white matter lesions in the pons, compatible with demyelinating plaques along the central audiovestibular nervous pathway, as the first expression of multiple sclerosis). CONCLUSIONS: An extensive MRI study of the audiovestibular nervous pathway and of the whole brain, pre- and postparamagnetic contrast administration, is recommended to rule out the wide spectrum of abnormalities that can cause SSNHL.
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PURPOSE: Mechanisms inducing continuous spike-wave during slow sleep (CSWS) in encephalopathy with electrical status epilepticus during sleep are still unclear. Recently, some sporadic cases with early thalamic injury associated with CSWS have been reported. The aim of the study was to investigate in a population of patients with an early thalamic injury the presence of an activation of paroxysmal activities during sleep, their characteristics, and possible relations to neuroimaging and neuropsychological features. METHODS: Thirty-two patients with prenatal or perinatal thalamic injuries, mostly due to a vascular mechanisms, were fully examined, including neuroimaging, EEG monitoring, and cognitive follow-up. RESULTS AND CONCLUSIONS: Twenty-nine of 32 patients showed major sleep EEG activation. Among these 29 patients, two different groups were distinguished: the first included the more or less typical CSWS (12 cases), generally with symmetry of spike and waves (SWs) and often with no spindle at all. The other cases had an usual asymmetry of SWs and presence or reduction of spindles, plus other atypical features concerning synchronism and morphology of SWs. Behavioral disorders were significantly more present in patients with a true CSWS; their improvement (and in one case of the three thoroughly followed the improvement of cognitive competence) paralleled the disappearance of CSWS. The generally predominant injury of the lateral aspect of the thalamus included reticular nucleus and ventral nuclei. An imbalance of gamma-aminobutyric acid (GABA)(B)--versus GABA(A)--mediated receptors may be evoked as a cofactor predisposing to CSWS.
Epilepsy is relatively common in infants with hydrocephalus. Its mechanism is controversial; in fact, studies on etiologically heterogeneous series are not able to clarify the mechanism generating epilepsy or to suggest effective prevention and treatment strategies. Our study is aimed at assessing the onset and evolution of epilepsy, as well as concurrent cognitive development of a homogeneous series of shunted posthemorrhagic hydrocephalus owing to pre- or perinatal intra- or periventricular hemorrhage. Forty patients were enrolled in the study. Twenty-six were patients with grade II-III intraventricular hemorrhage, 16 of whom had associated ischemic lesions. In the remaining 14 patients, a grade IV intra-ventricular hemorrhage was found. Epilepsy was observed in 27 patients. Aside from 10 cases with nonsyndromic forms of epilepsy, it was possible to define at least three different age-dependent epileptic syndromes: symptomatic neonatal location-related epilepsy with transient West's syndrome in infancy in 5 patients; West's syndrome in 8 patients; and continuous spike-waves during sleep in 4 patients. Epilepsy was significantly correlated with ischemic lesions only. Early thalamic injuries frequently evolved toward continuous spike-waves during sleep, indicating that patients with thalamic injury must be monitored to detect continuous spike-waves during sleep early. Cerebellar atrophy, in addition to epilepsy and other brain injuries, accounted for disorders of cognitive development.
Ornithine transcarbamylase deficiency (OTCD) is an X-linked inherited disease and the most common inborn error in urea synthesis in human patients. In adult heterozygous patients, OTCD can be responsible for life-threatening hyperammonemic coma. We report the case of a 32-year-old woman admitted to our hospital with seizures after a recent high protein load. Her parents related a history of recurrent episodes of vomiting, meat refusal, lethargy, and convulsions since childhood, and measurement of plasma ammonemia levels was the key to early diagnosis of OTCD. We report the pathophysiologic characteristics, clinical features, clinical course, and differential diagnosis of OTCD and discuss the therapeutic options, including continuous venovenous hemodiafiltration and pharmacologic therapy for reduction of plasma ammonemia levels. A diagnosis of OTCD should be considered in adult nonhepatic patients with hyperammonemic coma, particularly if they have a history of protein avoidance and neurologic symptoms. Early recognition and appropriate treatment are critical to avoid severe brain damage and death.
In a case of murder by a single .22 caliber bullet fragmented in the head, determination of the trajectory was a key issue in identifying which of 2 windows, 1 of which was associated with 2 suspects, was the site of fire. For this purpose, we processed the computed tomography of the victim's head by using a radiation therapy planning system called Plato, which is routinely used in radiation oncology. This tool provided a 3-dimensional reconstruction of the cranio-cerebral lesions and a spatial location of bullet and bone fragments. In this article is described the more intuitive relationship with forensic and ballistic data obtained from the 3-dimensional visualization and the physical and mathematical analysis used to calculate the angle of shot.
INTRODUCTION: Thalamic tumors are typical deep brain tumors; their incidence is not precisely known because of the different definition criteria. However, taking only lesions arising in the thalami into consideration (and excluding those secondarily involving the thalami from adjacent structures) approximately 40% of thalamic tumors affect patients under 18 years of age and thalamic neoplasms account for 2-5% of all intracranial tumors in children. MATERIALS AND METHODS: In the present paper we have focused attention on the neuroimaging features of thalamic tumors in a pediatric population; based upon personal experience, we suggest a rational neuroradiological approach to the diagnostic evaluation, describe CT and MRI findings of the most common tumors, and attempt to define basic patterns in order to provide the most reliable "pathological" diagnosis.
Diffusion (DWI) and perfusion weighted (PWI) MR imaging, have come to have an increasingly important clinical role, especially in neurovascular imaging. Diffusion MR imaging does not evaluate hemodynamic parameters, but can be considered a functional technique because it provides information about the tissue functional structure at a microscopic level. In this technique, image contrast to a large extent depends on the diffusion coefficient, a parameter indicative of the characteristics of the stochastic thermic translational motion of water molecules (Brownian motion). Clinical perfusion measurement has been performed in almost all organs with different techniques. Over the last ten years, with the use of contrast media, considerable experience has been gained in the measurement of hemodynamics with MRI. At present, perfusion-MR imaging is one of the clinically most relevant procedures of functional MRI, whose application is gaining ground, owing to the increasing availability of necessary hardware and software. Physical and hemodynamic principles of the two techniques, pulse sequences necessary for their implementation and main applications in the imaging of CNS disorders are illustrated. While DWI and PWI alone can address numerous questions, their information is for the most part complementary to that provided by conventional MRI and their combination seems extremely promising.
The case of a woman on day four post partum with sensorimotor deficit of the right side and CT evidence of a left temporofrontal hemorrhagic lesion, is presented. Attending physicians requested cerebral angiography. To better evaluate the clinical justification of requested imaging procedure the patient medical history and performed CT examination were carefully revised. According to this analysis and based on a clinicoradiological methodology, the request of a cerebral angiography was considered appropriate. The examination showed several radiological signs but a definitive diagnosis could not be established. Second choice imaging procedures were analyzed and MRI completed with MR-angiography was performed. It allowed to document transverse and sigmoid sinus thrombosis. Therefore, in the diagnosis of venous sinus thrombosis, MRI combined with MR-angiography was shown to be a method of first choice while angiography plays a major role in therapy for intravascular thrombolysis.
A case of a patient with neurologic symptoms is reported. Baseline MRI findings were inconclusive to establish a definitive diagnosis. The worsened neurologic and neuroradiologic pattern directed towards a diagnosis of tumor. A second MRI examination and MR-spectroscopy confirmed the hypothesis based on both the diagnosis of nature of the lesion and the histological characterization of the surgical specimen. The technique of MR-spectroscopy is briefly described.
The case of a patient with predominant short-term memory and CT pattern suggestive of of normal pressure hydrocephalus, is discussed. Clinical and CT findings did not allow to predict the clinical response to a possible ventriculoperitoneal shunt. On MRI more accurate morphological evaluation with cine-MR functional assessment was obtained. Calculated CSF flow indexes evidenced hyperdynamia usually associated with a good outcome after ventriculoperitoneal shunting.
The case of a patient with a previous history of cerebral infarction, shown to be positive for a brain neoformation on control CT, is presented. Subsequent MRI for an in-depth diagnostic study was completed with DWI and MR spectroscopy to define the nature of the lesion. The differential diagnosis of the lesion is discussed. In conclusion, the major diagnostic role of combined standard MRI with DWI sequences and MR-spectroscopy in the radiologic study of focal brain lesions, is stressed.
The case of a 34-year-old female patient come to the Emergency Department for neurological symptoms of recent onset is presented. No-contrast CT documented the presence of a neoformation approximately 3 cm in size in the 4th ventricle. For an in-depth diagnostic study of the lesion contrast enhanced MRI was performed. The examination detected a second minute (< 1cm) intraparenchymal nodule highly suspicious of metastasis from primary extra-cerebral neoplasm. The differential diagnosis of infratentorial lesions is discussed. It is concluded that the diagnostic combination of standard MRI with contrast sequences in the three conventional planes plays a major role in typing the nature of focal brain lesions.
The case of a 63-year-old female patient affected by arterial hypertension under home therapy, with disordered consciousness and confusion, is discussed. At the emergency department of another hospital she underwent cranial CT which showed mild swelling of right cerebral hemisphere. Based on the clinical suspicion of herpes simplex encephalitis compatible with a first MRI examination of the brain, the patient was admitted to the department of infectious disease of the polyclinic to confirm the diagnosis and plan the therapeutic approach. MRI was repeated and completed with EPI-DWI sequences and PRESS spectroscopy. It did not rule out categorically the infectious/inflammatory pattern but, based on a careful evaluation of the anatomic distribution of acute lesions, the most likely diagnostic hypothesis was the presence of multiple watershed cerebral infarcts on the right side.
The case of a 53-year-old female patient admitted to the Emergency department with symptoms from right third cranial nerve of acute onset, is presented. Cranial CT, performed in emergency, documented an intra-axial mass which required an in-depth diagnostic study with cranial MRI after contrast administration. Conventional MRI and DWI helped in correct lesion characterization and in the differential diagnosis with other brain disorders.
The case of a female patient admitted to the hospital for a syncopal episode characterized by mental confusion, retrograde amnesia, agnosia, lack of sphincter control and behavior disorders, is presented. Cranial CT showed a frontal bihemispheric lesion. MRI completed with DWI was then performed to better define the nature of the lesion and for an in-depth diagnostic study. The diagnostic role of conventional MRI combined with DWI and the importance of the latter in the differential diagnosis between primary central nervous system lymphoma (confirmed at histology) and glioblastoma multiforme is discussed.