Journal article
Ataxia-Telangiectasia Associated with Hypogammaglobulinemia
Archives of neurology (Chicago), Vol.8(3), pp.318-327
03/01/1963
DOI: 10.1001/archneur.1963.00460030102010
PMID: 13951457
Abstract
The syndrome of ataxia-telangiectasia was first described in 1941 by Madame Louis-Bar1 and subsequently elaborated upon by Boder and Sedgwick2,3 and Wells and Shy4 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.5In 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
Details
- Title: Subtitle
- Ataxia-Telangiectasia Associated with Hypogammaglobulinemia
- Creators
- LUDWIG GutmannLUC Lemli
- Resource Type
- Journal article
- Publication Details
- Archives of neurology (Chicago), Vol.8(3), pp.318-327
- DOI
- 10.1001/archneur.1963.00460030102010
- PMID
- 13951457
- NLM abbreviation
- Arch Neurol
- ISSN
- 0003-9942
- eISSN
- 1538-3687
- Publisher
- American Medical Association
- Language
- English
- Date published
- 03/01/1963
- Academic Unit
- Neurology
- Record Identifier
- 9984303261602771
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