Cardiac rhabdomyomas and cerebral lesions in 4 pediatric patients with tuberous sclerosis.

Rhabdomyoma is the most common primary cardiac tumor in pediatric patients. A strong association exists between cardiac rhabdomyomas and tuberous sclerosis (TS), an autosomal dominant disease, characterized by diffuse lesions in the nervous system, such as cortical-subcortical tubers and subependymal nodules. In TS, cardiac rhabdomyomas typically are diagnosed in childhood, but they could be detected in the neonatal period with echocardiography and magnetic resonance imaging and may precede cerebral lesions. Therefore, the precocious detection of cardiac rhabdomyomas in pediatric patients can suggest the diagnosis of TS and the early detection of cerebral lesions, improving the management of the related symptoms. We reported the cases of 4 pediatric patients, in which the detection of cardiac rhabdomyomas lead to the early discovery of cerebral lesions and the diagnosis of the TS.

Cardiac Masses and Pseudomasses: An Overview about Diagnostic Imaging and Clinical Background.

A cardiac lesion detected at ultrasonography might turn out to be a normal structure, a benign tumor or rarely a malignancy, and lesion characterization is very important to appropriately manage the lesion itself. The exact relationship of the mass with coronary arteries and the knowledge of possible concomitant coronary artery disease are necessary preoperative information. Moreover, the increasingly performed coronary CT angiography to evaluate non-invasively coronary artery disease leads to a rising number of incidental findings. Therefore, CT and MRI are frequently performed imaging modalities when echocardiography is deemed insufficient to evaluate a lesion. A brief comprehensive overview about diagnostic radiological imaging and the clinical background of cardiac masses and pseudomasses is reported.

Piezosurgery as a further technical adjunct in minimally invasive supraorbital keyhole approach and lateral orbitotomy.

OBJECTIVE: One of the problems in neurosurgery is how to perform rapid and effective craniotomies that minimize the risk of injury to underlying eloquent structures. The traditional high-powered pneumatic tools and saws are efficient in terms of speed and penetration, but they can provoke bone necrosis and sometimes damage neurovascular structures. As an alternative, we evaluated the piezoelectric bone scalpel (piezosurgery), a device that potentially allows thinner and more precise bone cutting without lesioning neighboring delicate structures, even in the case of accidental contact. MATERIAL AND METHODS: From January 2009 to December 2011, 20 patients (8 men and 12 women), 19 to 72 years of age (mean: 49.3 years) were treated using piezosurgery. Surgery was performed for the removal of anterior cranial fossa meningiomas, orbital tumors, and sinonasal lesions with intracranial extension. RESULTS: The time required to perform craniotomy using piezosurgery is a few minutes longer than with traditional drills. No damage was observed using the piezoelectric device. Follow-up clinical and neuroradiologic evaluation showed a faster and better ossification of the bone flap with good esthetic results. CONCLUSIONS: Piezosurgery is a new promising technique for selective bone cutting with soft tissue preservation. This instrument seems suitable to perform precise thin osteotomies while limiting damage to the bone itself and to the underlying delicate structures even in the case of unintentional contact. These advantages make the piezoelectric bone scalpel a particularly attractive instrument in neurosurgery.

Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses.

Mucopolysaccharidoses (MPSs) are a group of inherited disorders due to lysosomal enzyme deficiencies which lead to multi-organ accumulation of glycosaminoglycans. Some forms of MPS disorders are characterized by various degrees of mental retardation. Magnetic Resonance Imaging (MRI) is the primary imaging technique to detect CNS alterations. The aim of this study is to evaluate the correlation between white matter (WM) alterations and the presence of mental retardation. We analyzed 20 patients with different forms of MPSs, 11 with mental retardation and 9 with a normal cognitive function; all of them underwent brain MRI and received a score on the basis of the alterations (WM alterations; perivascular, subarachnoid, and ventricular space enlargement; abnormalities of the basal ganglia, of the corpus callosum and of the atlanto-axial joint). All patients with mental retardation presented severe WM alterations, while only five out of the nine subjects without mental retardation showed certainly WM abnormalities. As far as the other cerebral abnormalities are concerned, no difference between the two groups has been found. These data seem to show that there is a significant correlation between the presence of WM alterations and mental retardation.

White-matter alterations and callosal abnormalities in syndromic patients with mental retardation.

The aim of this study was to evaluate the frequency of callosal abnormalities and white matter alterations in syndromic patients. The authors report on the cerebral magnetic resonance imaging (MRI) morphologic analysis of the corpus callosum and white matter in 73 normal subjects and 61 syndromic patients. The study of the corpus callosum was carried out by MRI using different morphometric methods: measurement of the dimensions of length and thickness of genu, body, and splenium; measurement of angles obtained using the sagittal plane; and application of the proportional grid of Talairach. The evaluation of the white matter was carried out by applying a subjective grading scale. Abnormalities of the corpus callosum were found in about 50% of the syndromic subjects; in half of these cases, the abnormalities were associated with white matter alterations. In five syndromic patients (8.2%), the white matter alterations were not associated with corpus callosum abnormalities. This study shows that corpus callosum abnormalities are frequent in syndromology regardless of the syndrome type.

MRI assessment of post-traumatic spinal instability.

The imaging evaluation of patients with spinal trauma has evolved over the past decades, and there has been particular interest in the concept of instability, to predict which a series of criteria have been proposed. We retrospectively evaluated the magnetic resonance imaging (MRI) findings in 50 patients with post-traumatic spinal instability according to Denis's three-column method, Daffner et al.'s radiographic criteria, and Oner et al.'s categorization of MRI findings; additionally, we evaluated the cord, the prevertebral tissue, and the epidural space. We suggest that an integrated panel of MRI information might be standardized in order to provide a more complete evaluation of spinal injury in an individual case and help planning surgical treatment.