[Contribution to the Louis-Bar syndrome (ataxia telangiectasia) (author's transl)].
An autopsy case report of a Louis-Bar syndrome (Ataxia telangiectasia) is given on a 9 year-old boy who was ill for 7 years. The Louis-Bar syndrome mostly is a hereditary familial disease transmitted by an autosomal recessive gene. We are considering the syndrome as a special form of hereditary ataxias which is morphologically belonging to the systematic atrophies of the cerebellum and, above all, combined with oculo-cutaneous telangiectasia and an immunopathy. As a peculiarity the present case exhibited the existence of generalized angiectasia (cerebellum, meninges, dura mater, epiphysis, skin, eyes, lungs, spleen, kidney).
D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000473:pathology*; D001344:Autopsy; D002525:Cerebellar Cortex / Q000473:pathology; D004388:Dura Mater / Q000473:pathology; D006801:Humans; D008168:Lung / Q000473:pathology; D008297:Male; D008578:Meninges / Q000473:pathology; D010870:Pineal Gland / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013154:Spleen / Q000473:pathology
Beitrag zum Louis-Bar-Syndrom (Ataxia telangiectasia).