Biomedical subjects
Publications and source records attributed to F Rognone.
The embryology of the pituitary gland and its normal development is described, including the importance of Pit-1. Congenital abnormalities of the hypothalamo-pituitary region are discussed.
We report on a patient with a multiple congenital abnormalities/mental retardation (MCA/MR) syndrome including facial abnormalities, agenesis of the corpus callosum, heart defect, 1st ray anomalies of the upper limb, and ambiguous genitalia, whose phenotype overlaps a previous description of XK syndrome. The patient has a ring chromosome (13) with deletion 13q32-qter. Molecular analysis demonstrated loss of the region from D13S317 to D13S285 and a paternal origin of the anomaly.
The role of skull X-rays, CT scan with and without intravenous contrast enhancement, angiography, digital subtraction angiography and magnetic resonance imaging in the morphological and topographical evaluation of arteriovenous malformation are analyzed and discussed. The literature on this subject is critically reviewed. Venous angioma, cavernoma, dural fistula and arteriovenous malformation with no angiographical evidence, are examined with special attention.
The authors describe the clinical and laboratory results relative to 7 cases of Ophthalmoplegia Plus, with special reference to the histochemical, ultra-structural and CFS findings and to the data obtained by Computerized Tomography (CT) of the brain. The CSF was altered in all the examined patients: 3 out of 7 presented an abnormal albumin quotient, 1 patient had an increased IgG Index; the isoelectrofocusing of the CSF proteins, carried out in 6 out of 7 cases, showed an abnormal protein content referred to gamma trace in 3 cases, oligoclonal bands in the CSF in one case, a double Tau fraction in one case, a damaged blood-brain barrier in 5 cases. The CT-performed in 6 out of 7 cases-revealed in one patient a diffuse hypodensity of the periventricular white matter, without signs of atrophy; 2 cases showed a mild atrophy of the posterior fossa involving the cerebellar hemispheres and vermis in one case, the vermis and the brain stem in the other one; no patient revealed signs of cortical or ventricular atrophy. The boundaries of the Ophthalmoplegia Plus are here discussed on the ground of the results obtained by the employment of the various research methods.
The brain CT findings in 54 patients in coma 1-5 (Bozza-Marrubini scale) following craniocerebral trauma are analysed retrospectively. Attention is focused on those of the CT features that constitute indirect signs of brainstem involvement: obliteration of the suprasellar cisterns, distortion of the perimesencephalic and quadrigeminal cisterns, dilatation of the temporal horn and widening of the cerebellopontine angle cistern on the lesion side, considered anatomically and clinically responsible for coma. The patients fell into three groups: 7 with negative CT, 31 with intracranial lesions not affecting the brainstem and 16 with CT evidence of descending transtentorial herniation. The CT signs correlated significantly with coma level and survival. These CT signs can be used alongside the clinical and other instrumental data -- EEG, VEP and intracranial pressure -- as a further criterion of severity in head-injury coma.
Computed tomography of dermoids and epidermoids usually demonstrates areas of variable hypodensity, located most frequently in the sellar region and in the cerebellopontine angle. This report presents two cases of hyperdense dermoids of the craniocervical region which are compared with six other cases described in the literature.
Thirty-two (64%) of 50 patients with motor neuron disease showed various patterns of cerebral atrophy (cortical, ventricular or both) at CT examination. The incidence of cerebral atrophy, particularly cortical atrophy, in motor neuron disease was greater than in a matched control group.
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A retrospective study was performed on 120 patients with cerebrovascular accidents in order to correlate EEG, CT and clinical data. A high degree of correlation was found between EEG and CT findings and between these laboratory tests and clinical picture in those subjects with ischemia in the carotid territory. Furthermore the combined use of EEG and CT testing improves the diagnostic validity of both methods.
120 patients with an ischaemic stroke visualized by computerized tomography were investigated: the clinical examination of the patients (double-blind study) showed a wrong diagnosis in 15,8%, the topographic diagnosis was correct in a much higher percentage (81%). Possible relationships between clinical severity, CT localization and extension of the damage were investigated; a statistically significant relationship was ascertained only in the group of 38 cases who were examined within 21 days from the stroke. The site and extension of the lesion did not seem to influence the clinical evolution or to be a good prognostic indicator in this study.
50 cases of intracerebral hemorrhage were investigated by CT within 7 days from the stroke; the clinical findings (double-blind study) showed a wrong etiologic diagnosis in 18% and a wrong topographic diagnosis in 20% of cases. The clinical severity and evolution did not seem to be related to either the site, or the extension of the lesion (cm) as evaluated by CT.
50 subjects who had one or several ischaemic attacks without detectable attenuation area in the CT scan were examined. CT findings grouped as follows: normal, cortical generalized atrophy and cortical localized atrophy with or without ventricular or cysternal enlargement, diffuse cortical and ventricular atrophy. The relationships between CT scan, clinical evolution, number of ischaemic attacks and predisposing risk factors were also considered. The mainly morphological value of CT and the limited dynamic and functional aspects of this technique are emphasized in agreement with other authors.
CT examination in 100 patients affected by chronic cerebrovascular insufficiency showed a normal picture in 16 cases, while 84 subjects showed different degrees of atrophy, generalised and focal, controlateral or sometime omolateral to the infarct, with differing patterns. The mean age of subjects with normal CT was significantly lower in comparison with patients with definite atrophy. Besides the neurological picture and the time course, the patients' psychiatric status was also assessed: no definite relationship seems to exist between psychiatric disturbances and brain atrophy. Pseudobulbar syndrome was found in 46 cases and many of them showed cortical and mainly ventricular atrophy. This picture was very seldom found in patients with vertebro-basilar insufficiency. Localised cortical atrophy, on the contrary, was often associated with ischaemic stroke. The incidence of predisposing risk factors (hypertension, diabetes mellitus or high lipid levels) was greater in subjects with brain atrophy and older age than in patients with normal CT scan.
The authors propose the use of CT scan in the diagnosis of patients with suspected craniostenosis. The technique offers a valid preoperative screening, uncovering associated malformations, and in addition, is particularly useful in following assessment. It can therefore, reduce surgical indications and limit conventional neuro-radiologic investigations.
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