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G Zuccoli

Publications and source records attributed to G Zuccoli.

At least 19 recordsLinked to original sources
PubMed2004

ENT Wegener's granulomatosis can hide severe central nervous system involvement.

The clinical manifestations of localised or early systemic forms of Wegener's granulomatosis (WG) do not require immediate treatment to save the patient's life and/or the function of a vital organ. The organs mainly involved are the ear, nose, throat (ENT) and lung, and the results of antineutrophil cytoplasmic antibody (ANCA) assays are frequently negative. We here describe three cases of the ANCA-negative early systemic form of WG with prevalent ENT involvement complicated by severe central nervous system (CNS) disease; in two cases, the only symptom was a mild headache. We conclude that, although apparently mild, the localised and early systemic forms of WG can hide CNS involvement and may require immediate treatment. This complication should be suspected and investigated in the case of patients with localised or early systemic disease especially in the presence of ENT involvement and negative ANCA assays.

Adult↗
PubMed2004

An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is commonly overlooked or misdiagnosed owing to its recent identification. It is characterized clinically by recurrent cerebral infarcts, usually appearing between the ages of 30 and 50 years, subcortical dementia, and pseudobulbar palsy. It begins with migraine with aura in approximately one-third of patients. The pathological hallmark of angiopathy is the presence of characteristic granular osmiophilic material (GOM) within the basal lamina of smooth muscle cells. The defective gene in CADASIL is Notch3, which encodes a large transmembrane receptor, and 70% of missense mutations are in exons 3 and 4. Each gene defect leads to either a gain or loss of a cysteine residue in the extracellular N-terminal domain of the molecule. We report the case of a 53-year-old woman admitted to the hospital for transient ischemic attack and stroke-like episodes recurrent since age 43 years. The patient had pseudobulbar palsy, pyramidal signs, and cognitive impairment but not frank dementia. Cerebral MRI showed periventricular diffuse and confluent ischemic lesions. Ultrastructural study revealed an abnormal deposition of granular osmiophilic material (GOM) within the basal lamina in skin capillaries. Direct sequence analysis of the Notch3 gene was performed. Since no mutation was detected in exons 3 and 4, the remaining exons were sequenced and a missense mutation, CGC-TGC in codon 1006 of exon 19 was found. The mutation led to a gain of a cysteine residue. This is the first missense mutation in codon 1006 of exon 19 of the Notch3 gene to be described in Italy and the second reported in the literature.

Brain↗
PubMed2001

Spontaneous carotid dissection presenting lower cranial nerve palsies.

Cranial nerve palsy in internal carotid artery (ICA) dissection occurs in 3--12% of all patients, but in 3% of these a syndrome of hemicranias and ipsilateral cranial nerve palsy is the sole manifestation of ICA dissection, and in 0.5% of cases there is only cranial nerve palsy without headache. We present two cases of lower cranial nerve palsy. The first patient, a 49-year-old woman, developed left eleventh and twelfth cranial nerve palsies and ipsilateral neck pain. The angio-RM showed an ICA dissection with stenosis of 50%, beginning about 2 cm before the carotid channel. The patient was treated with oral anticoagulant therapy and gradually improved, until complete clinical recovery. The second patient, a 38-year-old woman, presented right hemiparesis and neck pain. The left ICA dissection, beginning 2 cm distal to the bulb, was shown by ultrasound scanning of the carotid and confirmed by MR angiogram and angiography with lumen stenosis of 90%. Following hospitalisation, 20 days from the onset of symptoms, paresis of the left trapezius and sternocleidomastoideus muscles became evident. The patient was treated with oral anticoagulant therapy and only a slight right arm paresis was present at 10 months follow-up. Cranial nerve palsy is not rare in ICA dissection, and the lower cranial nerve palsies in various combinations constitute the main syndrome, but in most cases these are present with the motor or sensory deficit due to cerebral ischemia, along with headache or Horner's syndrome. In the diagnosis of the first case, there was further difficulty because the cranial nerve palsy was isolated without hemiparesis, and the second case presented a rare association of hemiparesis and palsy of the eleventh cranial nerve alone. Compression or stretching of the nerve by the expanded artery may explain the palsies, but an alternative cause is also possible, namely the interruption of the nutrient vessels supplying the nerve, which in our patients is more likely.

Adult↗
PubMed2001

[Optic pathway gliomas in patients with neurofibromatosis type 1: clinical-neuroradiological integrated approach].

PURPOSE: To evaluate a patient population affected by Neurofibromatosis type 1 (NF1) with special reference to optic pathway gliomas. MATERIAL AND METHODS: A total of 419 NF1 patients (222 men, 197 women) were retrospectively evaluated to show incidence, biological behaviour, neuroradiological and clinical presentation of optic pathway gliomas. Central Nervous System MR and ophthalmologic evaluations were reviewed. RESULTS: Thirty-two patients out of 419 (7.6%) showed the presence of optic pathway gliomas. Of these, 28 (87.2%) patients showed tumoral involvement of the optic chiasma. The right intracranial optic nerve was involved in 15 patients (46.8%), the left intracranial optic nerve in 18 (56.2%), the right extracranial optic nerve in 11 (34.3%), the left extracranial optic nerve in 10 (31.2%) and the right and left optic tracts in 6 (18.7%) patients. Geniculate body and optic radiation were not involved by tumour diffusion. Visual acuity testing was positive in 26/32 (81.2%), the fundus oculi in 11/32 (34.3%) patients and the visual field evaluation in 12/32 (37.5%) patients. CONCLUSIONS: In this study we showed an high correlation between optic pathway tumours and ophthalmologic abnormalities confirming the usefulness of an integrated clinical-neuroradiological approach in patients affected by NF1. We also described the biological behaviour of these tumours in our NF1 patient population.

Adolescent↗
PubMed2000

Magnetic resonance findings and ophthalmologic abnormalities are correlated in patients with neurofibromatosis type 1 (NF1).

In subjects with neurofibromatosis type 1 (NF1), we show that a reduction in the visual field is the most sensitive indicator of gliomas along the optic pathway. Therefore, we conclude that a visual field evaluation is the most sensitive clinical test among those evaluated to predict the presence of optic pathway pathology on an MRI examination. These data may contribute to the establishment of more precise guidelines for the evaluation and treatment of children with NF1.

Adolescent↗
PubMed2000

Early spontaneous regression of a hypothalamic/chiasmatic mass in neurofibromatosis type 1: MR findings.

A patient with neurofibromatosis type 1 was found to have an enhancing mass in the hypothalamus and in the anterior optic pathway. A 3-month MR study showed a reduction in the size and enhancement of the mass. At a 9-month MR follow-up the mass disappeared and ceased to enhance. This report shows the unusual behaviour of a hypothalamic/chiasmatic mass confirming that in such asymptomatic cases the conservative management can be considered the treatment of choice.

Child, Preschool↗
PubMed2000

[Calcified renal metastases: their etiology, pathogenesis, computed tomographic aspects and differential diagnosis].

PURPOSE: To describe CT findings of calcified renal metastases focusing on differential diagnosis problems. MATERIAL AND METHODS: We retrospectively reviewed abdominal CT scans of 8000 patients with tumor, performed from 1984 to 1998. Among the 58 renal metastases, 9 showed a calcific component. We evaluated the location, morphostructural pattern, histology of the primary lesion, the synchronous or metachronous character and the type of treatment. All the lesions were pathologically proved. RESULTS: The primary histotype of the 9 metastases was as follows: 4 mucin-producing adenocarcinomas of the large bowel, 1 gastric mucinous adenocarcinoma, 1 chondrosarcoma, 1 osteosarcoma, 1 melanoma, 1 papillary thyroid carcinoma. In all the cases the renal metastasis was unilateral and unifocal. Granular multiple calcifications were demonstrated within the metastases of mucin-producing adenocarcinoma of the large bowel (3), within the metastasis of chondrosarcoma (1) and of melanoma (1). Diffuse "star-like" calcifications were demonstrated in renal metastases of mucin-producing adenocarcinoma of the large bowel and of gastric mucinous adenocarcinoma (1). Peripheral "egg-shell" calcifications were demonstrated in renal metastasis from papillary thyroid carcinoma (1). Completely calcified monofocal calcification was demonstrated in renal metastasis from osteosarcoma (1). DISCUSSION AND CONCLUSIONS: Calcified renal metastases are rare lesions related to specific oncotypes. The differential diagnosis (carcinoma with calcifications, osteosarcoma, chondrosarcoma, nephrocalcinosis, granulomatosis, hydatidosis etc.) is particularly difficult because of the aspecificity of the morphostructural pattern. Diagnosis is based on a history of specific oncotypes (papillary and mucin-secreting carcinomas, osteosarcoma and chondrosarcoma), but in most cases it requires pathologic confirmation.

Aged↗
PubMed1999

[Mesenchymal tumors of the pancreas: computed tomography patterns].

PURPOSE: To report the CT patterns of pancreatic mesenchymal lesions and to investigate the capabilities and limitations of this technique in terms of characterization. MATERIAL AND METHODS: We selected the CT examinations of 23 patients from all CT examinations of the pancreas performed from 1986 to 1998. The patients were 10 to 85 years old and all lesions but two (1 lipoma and 1 lymphoma) had pathologic confirmation. Two lymphangiomas, 2 lipomas, 4 Schwannomas (SCH), 1 plexiform neurofibroma, 1 cystic teratoma, 1 pancreatoblastoma, 9 non-Hodgkin's lymphomas (NHL), 1 undifferentiated sarcoma and 2 leiomyosarcomas were diagnosed. RESULTS: Lipomas had typically homogeneous negative HU values, and NHL a homogeneous hypodense pattern with mild contrast enhancement, with no necrosis or calcifications in both diffuse and nodular forms; SCH had variable appearance, with water/slightly negative HU numbers or highly enhanced patterns with a central necrotic core depending on the main Antoni A or B histology. Lymphangiomas appeared as complex cysts, with thin and regular or calcified walls and intracystic septa, while the plexiform neurofibroma had near-water homogeneous density with mild contrast enhancement and an infiltrating growth pattern. Our teratoma had multiple calcifications, mucinous and lipid components. The pancreatoblastoma, sarcomas, and leiomyosarcomas exhibited no specific findings. CONCLUSIONS: In selected cases, CT can provide virtually diagnostic information (lipoma and teratoma), or at least highly suggestive findings (NHL, plexiform neurofibroma, lymphangioma). Moreover, knowledge of the variable morphostructural patterns of mesenchymal histotypes (SCH, sarcoma etc.) permits to include them in the differential diagnosis of pancreatic masses.

Adolescent↗
PubMed1999

[An assessment of abdominal fatty tissue distribution in obese children. A comparison between echography and computed tomography].

PURPOSE: Computed tomography (CT) and, more recently, ultrasound (US), have proved excellent tools for quantifying adipose tissue distribution. Body fat distribution is an important factor in the treatment of obesity and its complications. We investigated the correlation between CT and US measurements in pediatric obesity. MATERIAL AND METHODS: Forty obese children and adolescents aged 4.1-14.8 years were submitted to CT and US. Intra-abdominal, subcutaneous and total body fat were calculated (in cm2), with the CT image analysis software. The rectus muscle-spine and rectus muscle-aorta distances, as indicative of visceral fat thickness, were measured on US images with(out) compression. The distance between skin-fat and fat-rectus muscle interfaces was measured as subcutaneous fat thickness. We also compared US-CT findings with other morphometric variables--i.e., patient's (ideal) body weight and skin fold measures. RESULTS: At US, the rectus muscle-aorta and rectus muscle-spine distances ranged 2.4-7.5 cm (mean: 4.47 cm) and 3.6-8.9 cm (mean: 5.79 cm), respectively. The skin-rectus muscle distance ranged 1.2-7.5 cm (mean: 3.14 cm). A statistically significant correlation was found between the CT measurement of visceral fat and the aorta-rectus muscle and rectus muscle-spine distances (r = 0.80 and 0.74, respectively). The US measurements of subcutaneous fat were correlated with CT subcutaneous fat area (r = 0.82). No correlation was found between overweight, as calculated by body mass index, and CT or US fat. CONCLUSION: Our findings indicate that US is as useful as CT in evaluating body fat distribution in pediatric obesity.

Abdomen↗
PubMed1998

[Extracerebral neoplastic manifestations in neurofibromatosis 1: integrated diagnostic imaging].

PURPOSE: To analyze the extracerebral manifestations of type 1 neurofibromatosis (NF-1), with special reference to peripheral nerve tumors. MATERIAL AND METHODS: The findings of 376 NF-1 patients (194 men and 182 women; age range: 0.1-48 years, mean: 8.1) were retrospectively reviewed. The patients had been submitted to abdominopelvic and superficial US and, in case of abnormal US findings or in the presence of symptoms, to CT and/or MRI. In addition, we considered 5 more patients (2 men and 3 women; age range: 50-72 years, mean: 64.4) with incomplete forms of NF-1 diagnosed after the finding of nerve sheath tumors. Biopsy (12 cases), surgery (10 cases), or clinical-instrumental follow-up were the study criteria. RESULTS: In the first group of patients we identified 91 cutaneous, 222 subcutaneous, 11 pendulous and 25 internal neurofibromas. Plexiform neurofibromas were found in the neck (1 case), chest (6 cases), abdomen (16), pelvis (8). We also found 1 benign and 1 malignant Schwannomas, 2 nerve sheath fibrosarcomas, 1 dopamine-producing sympatoma and 1 spermacytoma. As for the second group of patients, we had 2 Schwannomas, 1 pulmonary neurofibroma, and 2 multiple plexiform neurofibromas. The neurofibromas exhibited homogeneous US hypoechogenicity or slight echogenicity, with little contrast enhancement at CT. MR showed peripheral hyperintensity and central hypointensity on T2-weighted sequences and marked contrast enhancement after gadolinium, sometimes with mostly central uptake. The plexiform neurofibromas, which are typical of NF-1, had poorly-defined or infiltrating margins, with similar findings to the previous ones but sometimes with less homogeneous patterns at both US and CT. The Schwannomas, which are a less common finding in NF-1, exhibited different features at MRI and CT, namely pseudo-liquid or solid-inhomogeneous patterns with irregular and inhomogeneous contrast enhancement relative to the Antoni A/B tumor component. In the malignant lesions we observed infiltrating patterns, with irregular and inhomogeneous contrast enhancement, arranged asymmetrically relative to the contralateral lesion. CONCLUSIONS: Extra-axial neoplasms are a frequent finding in NF-1. Despite the extremely variable appearances of some lesions (particularly Schwannomas), the typical plexiform neurofibroma exhibits characteristic patterns. The diagnosis of malignancy often requires bioptic confirmation.

Adolescent↗
PubMedDate not supplied

Peliosis hepatis with pseudotumoral and hemorrhagic evolution: CT and MR findings.

Peliosis hepatis is an uncommon benign disorder characterized by blood-filled cavities within the liver. We describe the sonographic, computed tomographic, and magnetic resonance appearance of a patient affected by peliosis hepatis with pseudotumoral and hemorrhagic evolution and direct demonstration of the ectatic vascular components.

Adult↗