Abstract
The syndrome of ataxia-telangiectasia was first described in 1941 by Madame Louis-Bar 1 and subsequently elaborated upon by Boder and Sedgwick 2,3 and Wells and Shy 4 in 1957. Since that time approximately 50 cases have been reported in the literature. The most prominent findings of this syndrome are the onset, early in childhood, of progressive cerebellar ataxia, oculocutaneous telangiectasia, and severe recurrent sinopulmonary infections. Less striking elements of ataxia-telangiectasia include familial occurrence, choreoathetosis, hyporeflexia, drooling, dysarthric speech, retardation of statural growth, pseudo-ophthalmoplegia, and fixation nystagmus. 5 In the present study, three siblings with this disorder are described. Frequent and severe infections, which complicated a majority of the cases in the literature, were a problem in the patients presented in this study. Hypogammaglobulinemia was found to be present in all three cases reported and very likely played an etiological role in the infectious processes of two, if not all
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
