1/5. ataxia telangiectasia with vascular abnormalities in the brain parenchyma: report of an autopsy case and literature review.A 25-year-old man was admitted to the Department of neurology, Gunma University Hospital, in June 1997. He had an intellectual disability and had suffered from repeated infection since childhood. cerebellar ataxia had developed at 19 years of age and he had been clinically diagnosed with ataxia telangiectasia (AT) comprising cerebellar ataxia and oculocutaneous telangiectasia at 24 years of age. He died from pneumonia and renal failure at 26 years of age. Neuropathological examination revealed Purkinje cell loss and atrophy of the dentate nuclei in the cerebellum, anterior horn-cell atrophy and demyelination of the gracile fasciculi in the spinal cord, and the existence of nucleocytomegalic cells in the anterior pituitary gland. These neuropathological findings correlated with previously reported cases of AT. In addition, spongy degeneration was found, predominantly around the blood vessels in the cerebral cortex. Diffuse spongy degeneration and multiple foci of coagulative necrosis with calcification were noted in the white matter. Abnormal vasculature was noted in both degenerative and necrotic areas in the cerebral cortex and in the white matter. The vessels at the center of the areas of spongy degeneration in the cerebral cortex had irregularly arranged and enlarged smooth-muscle-cell nuclei and a distorted, narrow lumen. The vessels present in the white matter were hyalinized. To our knowledge, these vascular abnormalities in the brain parenchyma have not been reported previously.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/5. Parotid and thyroid gland cancers in patients with ataxia-telangiectasia.This study describes the clinicopathologic features of parotid and thyroid gland cancers in patients with ataxia-telangiectasia (AT). The medical records of 412 AT patients were reviewed to identify those patients who developed parotid or thyroid gland cancers. Presenting features, diagnoses, types of therapy, risk factors, and other primary cancers were analyzed. Five patients with parotid or thyroid gland cancers were identified. Three had parotid (2 mucoepidermoid and 1 acinic cell) and 2 had thyroid gland (1 papillary and 1 follicular) cancers. Four patients presented with head and neck masses and 1 had an occult papillary thyroid carcinoma. Four patients had more than one primary cancer. The only mode of therapy was surgery. The 2 patients with mucoepidermoid carcinoma had complete parotidectomies. One is alive without any evidence of disease 12 months after diagnosis and 1 died of refractory lymphoma without any evidence of mucoepidermoid carcinoma at autopsy. The patient with acinic cell carcinoma had a parotid biopsy only. The 2 patients with thyroid cancer were diagnosed at autopsy. The results indicate that patients with AT are at risk for developing multiple primary cancers including those of the parotid and thyroid gland, and should be evaluated for such primaries.- - - - - - - - - - ranking = 9keywords = gland (Clic here for more details about this article) |
3/5. leiomyoma of the suprarenal gland in a child with ataxia-telangiectasia.We report the occurrence of a leiomyoma of the suprarenal gland in a 10-year-old girl with ataxia-telangiectasia (A-T). Muscle cell tumors are very uncommon in this gland as they are in A-T. Possible reasons for developing nonhematologic tumors in this syndrome are reviewed. A defect in dna repair mechanisms probably favors, in young children, the expression of tumors normally expected in the aged.- - - - - - - - - - ranking = 6keywords = gland (Clic here for more details about this article) |
4/5. ataxia telangiectasia and acinic cell carcinoma of the parotid gland.An increased incidence of malignancies occurs in ataxia telangiectasia. These are most frequently hematopoietic in children and epithelial in adults. Both cellular immunodeficiency and chromosome damage have been implicated in their etiology. There has been only one report of a salivary malignancy, a parotid mucoepidermoid carcinoma. We describe a second salivary malignancy, a metastasizing acinic cell carcinoma of the parotid gland, that developed in a 33-yr-old woman with ataxia telangiectasia. The marked chromosomal abnormalities that were present may have been involved in the pathogenesis of her tumor.- - - - - - - - - - ranking = 5keywords = gland (Clic here for more details about this article) |
5/5. ataxia telangiectasia and mucoepidermoid carcinoma of the parotid gland: a case report.ataxia telangiectasia (AT) is an immunodeficiency disorder with increased incidence of malignancy. Most of the tumors are lymphomas, and salivary gland neoplasms are very uncommon. A case with ataxia telangiectasia and mucoepidermoid carcinoma of the parotid gland, the second case in English literature, was presented. The treatment was discussed under the view of the literature.- - - - - - - - - - ranking = 6keywords = gland (Clic here for more details about this article) |