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Biomedical subjects

P Ambrosetto

Publications and source records attributed to P Ambrosetto.

At least 19 recordsLinked to original sources
PubMed2003

Gliomatosis cerebri: clinical, neurochemical and neuroradiological response to temozolomide administration.

Gliomatosis cerebri is a rare form of diffusely infiltrating glioma that is typically resistant to conventional chemotherapy and radiation therapy and carries a poor prognosis. Temozolomide has shown antineoplastic activity against malignant gliomas and more recently was beneficial in one patient with gliomatosis cerebri. To make an objective assessment of the effect of long-term temozolomide administration in a patient with gliomatosis cerebri we used brain proton magnetic resonance spectroscopy and structural MRI. A 46-year-old man with gliomatosis cerebri was treated with temozolomide (200 mg/m(2) per day for 5 days every 28 days). Twenty cycles of temozolomide resulted in a marked reduction in choline and scyllo-inositol content, as detected using brain proton MR spectroscopy, indicating reduced tumor cellularity and/or growth rate. Neurochemical improvements were associated with normalization of the signal intensity in most of the previously affected cerebral regions and regression of mass effect on MRI. A left pyramidal syndrome, present at the start of the treatment, disappeared. Our observation lends support to larger clinical trials evaluating the use of temozolomide to treat this brain tumor.

Antineoplastic Agents, Alkylating↗
PubMed2001

Wernicke's encephalopathy in a child: case report and MR findings.

We report a child affected by Wernicke's encephalopathy (WE), which was unsuspected clinically. MRI suggested the correct diagnosis and prompted appropriate thiamine replacement. WE is a difficult condition to recognise, especially in children, and MRI may be useful in the diagnosis of the disease.

Child↗
PubMed2000

Wernicke-korsakoff encephalopathy and polyneuropathy after gastroplasty for morbid obesity: report of a case.

BACKGROUND: Gastric partitioning is a surgical procedure for the treatment of morbid obesity that may engender neurological complications, such as Wernicke encephalopathy and polyneuropathy. SETTING: A specialist hospital. PATIENT: A 36-year-old woman developed Wernicke-Korsakoff encephalopathy and polyneuropathy 3 months after gastroplasty for morbid obesity. A magnetic resonance scan documented the diagnosis, and a clear improvement occurred after parenteral thiamine treatment. In our patient and in previously described cases of the literature, postsurgical vomiting is a constant finding that seems to be the precipitating factor of neurological complications of gastric partitioning. CONCLUSION: Persistent vomiting after gastroplasty for morbid obesity should be considered an alarming symptom to treat immediately with appropriate measures.

Adult↗
PubMed1999

Importance of dural ectasia in phenotypic assessment of Marfan's syndrome.

BACKGROUND: Early identification of Marfan's syndrome is fundamental in the prevention of aortic dilatation, but the wide phenotypic expression of the disorder makes the clinical diagnosis very difficult. Dural ectasia has been classified as a major diagnostic criterion; however, its prevalence is not known. We aimed to identify the true prevalence of dural ectasia in Marfan's syndrome, and to investigate its relation to aortic pathology. METHODS: A magnetic-resonance-imaging (MRI) study of the thoracic aorta and of the lumbosacral spine was done in an inclusive series of 83 patients with Marfan's syndrome to assess the presence and degree of dural ectasia and aortic involvement; 12 patients were younger than 18 years. 100 individuals who underwent MRI of the lumbar spine for routine clinical indications represented the control group; none of them had any potential causes for dural ectasia. FINDINGS: Dural ectasia was identified in 76 (92%) patients and none of the control group. The severity of dural ectasia was related to age; the mean (SD) age of patients with mild dural ectasia was 26 years (14) whereas that of those with severe disease (meningocele) was 36 years (9) (p=0.038). 11 of 12 patients younger than 18 years had dural ectasia. No association was found between aortic dilatation and dural ectasia. INTERPRETATION: Dural ectasia is a highly characteristic sign of Marfan's syndrome, even at an early age.

Adolescent↗
PubMed1999

Involvement of the skull base and vault in chronic idiopathic hyperphosphatasia.

Chronic idiopathic hyperphosphatasia (CIH) is a rare generalised skeletal dysplasia in childhood. The clinical, radiographic and cerebral MR findings in a 5-year-old girl with the severe infantile form of CIH are reported. In spite of cranial enlargement, the intracranial space and the skull base were markedly reduced, the whole brain was compressed and a Chiari I malformation was present. Normal flow in the dural venous sinuses was documented. The patient showed no detectable cranial nerve involvement or hydrocephalus. Cranial MR in this patient enabled us to confirm that CIH involves the skull base and vault.

Abnormalities, Multiple↗
PubMed1999

MR findings in Seckel's syndrome: report of a case.

The cranial MR findings in a patient with Seckel's syndrome are presented. The examination demonstrated osseous anomalies of the face, but, unlike previous reports, the brain and cerebellum were normal. The authors emphasise the importance of further reports on MR findings in patients affected by Seckel's syndrome.

Brain↗
PubMed1998

MR findings in pituitary haemosiderosis.

A girl with Diamond-Blackfan syndrome and hypopituitarism was suspected of having pituitary haemosiderosis because of the clinical picture and the long history of blood transfusions. On T1-weighted MR images the pituitary exhibited a markedly hypointense anterior lobe (mimicking the empty sella), suggesting iron deposition, while on T2W MRI the low signal of the pituitary was surrounded by the high signal of the CSF. MR may be considered the examination of choice for detecting iron overload in the pituitary.

Adolescent↗
PubMed1995

Primary empty sella: differences and similarities between children and adults.

To identify possible differences between empty sella in children and adults we studied 43 subjects (age 13.6 +/- 5.4 years, range 4.1-27 years) with hypothalamic-pituitary disorders and empty sella at magnetic resonance imaging. Pituitary function, presence of non-endocrine symptoms, perinatal history, sellar volume, pituitary height, midline or intrasellar anatomical abnormalities were evaluated. Twenty subjects had isolated growth hormone deficiency, 17 multiple pituitary hormone deficiency and 6 puberty disorders (3 precocious puberty, 2 idiopathic delayed puberty, 1 Kallmann syndrome). The group with multiple pituitary hormone deficiency had a higher percentage of subjects with complete empty sella, i.e. pituitary height < 2 mm (p = 0.016), or intrasellar anatomical abnormalities (p = 0.0002) than the other groups. The subjects with puberty disorders had a mean sellar volume higher than the other groups (p < 0.05). Apart from pituitary dysfunction, symptoms of the empty sella syndrome were infrequent (9.3% of cases) in our subjects. The age of our subjects, the frequent association between empty sella and pituitary dwarfism and the non-enlarged sellae suggest a different aetiology, perhaps congenital, for empty sella in our subjects. As in adults, empty sella may be associated with both pituitary hypo- and hyperfunction.

Adolescent↗
PubMed1995

Role of magnetic resonance imaging in hypothalamic-pituitary disorders.

Improvement of MRI diagnostic accuracy in the study of the hypothalamic-pituitary region provides precise anatomic details. In pituitary dwarfism, MRI reveals severe sella/pituitary gland and stalk hypoplasia with or without posterior pituitary ectopia, and empty sella, and this more frequently in patients with multiple pituitary hormone deficiency. Two main hypotheses have been proposed to explain these findings: traumatic stalk transection during breech delivery, and abnormal embryonic development of the pituitary gland. The association between neuroradiological findings and type/severity of endocrine alteration has not yet been clarified. In diabetes insipidus, MRI findings are normal picture, posterior lobe not visible, and thickened stalk (as expression of preclinical/initial histocytosis). Patients with central precocious puberty or hypogonadotropic hypogonadism rarely show morphologic abnormalities (hamartoma of the tuber cinereum, partially empty sella). So far, MRI permits one to identify morphologic pictures in diseases previously considered 'idiopathic'.

Humans↗
PubMed1994

Intraventricular fused fornices: a specific sign of fetal lobar holoprosencephaly.

Lobar holoprosencephaly can be recognized in utero with sonography. However, a specific diagnosis is difficult and thus far has relied upon a qualitative evaluation of the morphology of the cerebral ventricles. In infants with this condition, magnetic resonance imaging demonstrates at times an abnormal appearance of the fornices, which are rudimentary and fused in to a single fascicle running within the third ventricle. In a 30-weeks' fetus affected by lobar holoprosencephaly, this finding could be well demonstrated by sonography and was confirmed after birth by both transfontanellar ultrasound and magnetic resonance imaging. It is proposed that the antenatal demonstration of an echogenic linear structure running within the third ventricle is a specific sign of lobar holoprosencephaly, and can assist this difficult diagnosis.

Journal Article↗
PubMed1994

Empty sella in children and adolescents with possible hypothalamic-pituitary disorders.

Several computed tomographic scan studies have described empty sellae in children with hypothalamic-pituitary disorders. Magnetic resonance imaging, however, is a more precise technique for visualizing the intrasellar content, such as the stalk and pituitary lobes. Using magnetic resonance imaging, we studied 339 children and adolescents (mean age +/- SD, 12.7 +/- 4.5 yr) with possible hypothalamic-pituitary disorders to ascertain the frequency of primary empty sella and examine its relationships with other intrasellar abnormalities, pituitary function, and adverse perinatal events. One hundred and ninety-three patients had isolated GH deficiency, 43 had multiple pituitary hormone deficiency, 10 had diabetes insipidus, 17 had hypogonadotropic hypogonadism, 5 had idiopathic delayed puberty, 47 had precocious puberty, and 24 had other hypothalamic pituitary disorders of hyperfunction. One tenth (10.9%) of the patients (37 cases) had empty sella, with a marked variation of incidences among the disorders listed above. A statistically higher frequency of subjects with empty sellae was found only in patients with multiple pituitary hormone deficiency. Patients with and without empty sellae were not different in regard to age or sex. The incidence of empty sella in the various groups of patients was as follows: isolated GH deficiency, 8.8% (17 cases); multiple pituitary hormone deficiency, 34.9% (15 cases); hypogonadotropic hypogonadism, 5.9% (1 case); idiopathic delayed puberty, 40% (2 cases); and precocious puberty, 4.2% (2 cases). No patients with isolated diabetes insipidus or other hypothalamic-pituitary disorders had empty sellae. In the patients with empty sellae, abnormalities of the stalk or posterior lobe were found in 1 patient with isolated GH deficiency (5.9%), 13 patients with multiple pituitary hormone deficiency (86.7%), and no patients with puberty disorders. Likewise, adverse perinatal events were found only in 1 patient with isolated GH deficiency and 9 patients with multiple pituitary hormone deficiency. These findings suggest that empty sella is not rare in children and adolescents evaluated for hypothalamic-pituitary disorders, particularly if there is multiple pituitary hormone deficiency. Empty sella can be found regardless of abnormalities of the stalk and posterior lobe, and adverse perinatal events do not seem to be the primary etiological factor. Empty sella is usually associated with pituitary hypofunction, but it can be found in patients with hyperfunction of the hypothalamic-pituitary-gonadal axis.

Adolescent↗
PubMed1992

Celiac disease, posterior cerebral calcifications and epilepsy.

Ten patients (5 males) affected by epilepsy with cerebral calcifications of unknown etiology mainly located in the posterior regions were subjected to a battery of tests including an intestinal biopsy. Our aim was to establish whether or not the patients also suffered from celiac disease. Celiac diseases was found in 6 patients. This result and the individual cases reported in the literature suggest that this triad of diseases (celiac disease, posterior cerebral calcifications and epilepsy) are casually related. The same HLA phenotype was found in all 10 patients, i.e., including the cases without celiac disease, suggesting an underlying disorder of the immune system. Our results emphasize that particular attention should be paid to a search for celiac disease in all patients with epilepsy and posterior cerebral calcifications.

Adolescent↗
PubMed1992

[Destructive spondylopathy in the dialysis patient. The diagnostic role of magnetic resonance].

Magnetic resonance imaging (MRI) was employed to study 7 long-term hemodialysis patients affected with destructive amyloid spondyloarthropathy. In the appropriate clinical setting, MRI proved to be more useful than conventional radiography or CT and more definitive in excluding infections. Indeed, MRI can replace more invasive procedures in making the correct diagnosis. Different than what is reported in literature, a high incidence of odontoid lesions (C2) was observed in our series, with extraosseous and extradural deposits of soft tissue masses (amyloid pseudotumors), subluxation, odontoid invagination and medullary compression. Bone lesions, involved disks and amyloid pseudotumors typically exhibited low-intensity signal on both T1- and T2-weighted sequences and no enhancement following Gd-DTPA injection. The use of MRI is thus suggested, especially at cervical level, also in case of relatively mild symptoms.

Aged↗