Gastric adenocarcinoma due to ataxia-telangiectasia (Louis-Bar syndrome).
نویسنده
چکیده
A 26-year-old male with ataxia-telangiectasia died with a gastric adenocarcinoma. Malignancy is a recognised complication of this condition, the majority of cases being reticuloendothelial. There have been three reports of gastric adenocarcinoma associated with ataxia-telangiectasia; this, however, is the first in British published reports.
منابع مشابه
Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature
BACKGROUND Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer. Clinical and radiographic evaluation for malignancy in ataxia-telangiectasia patients is usually atypical, leading to delays in diagnosis. CASE PRESENTATION We report the case of a...
متن کاملگزارش دو مورد آتاکسی تلانژکتازی در یک خانواده
The ataxia - telangiectasia or Louis - Bar syndrome is a rare hereditary disease. The inheritance pattern is autosomal recessive, locus gene has been mapped to the long arm of chromosome 11. The onset of the disease coincides more or less with the acquisition of walking, which is awkward and unsteady. The characteristic telangiectatic lesions, are mainly subpapillary vascular plexuses of the bu...
متن کاملAtaxia-telangiectasia presenting with craniostenosis.
Ataxia-telangiectasia is a familial syndrome which gradually unfolds during early childhood. It is characterized by progressive cerebellar ataxia, symmetrical telangiectasia, frequent respiratory infections, delayed physical but normal mental development and quite often a dry skin with cafe-au-lait spots. The first published case by Louis-Bar (1941) was followed by fuller and welldocumented rep...
متن کاملFamilial Ataxia-telangiectasia.
A familial syndrome of progressive cerebellar ataxia and choreoathetosis, associated with oculocutaneous telangiectasia and recurrent sinobronchitis in childhood, has recently been described in the American literature. The close similarity of the clinical features observed by Boder and Sedgwick (1957, 1958), Wells and Shy (1957), Biedmond (1957), Centerwall and Miller (1958) and Ford (1960) lea...
متن کاملRole of Mitochondria in Ataxia-Telangiectasia: Investigation of Mitochondrial Deletions and Haplogroups
Ataxia-Telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease that is characterized by a wide range of features including, progressive cerebellar ataxia with onset during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. Mitochondrial DNA (mtDN...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 16 2 شماره
صفحات -
تاریخ انتشار 1979