Ataxia-Telangiectasia

WILLIAMS, HOMER E.

doi:10.1001/archderm.1960.01580060091013

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1963

1973

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Cited by 21 publications

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“…Ataxia-telangiectasis is an autosomal recessive disorder characterized by gradually progressive cerebellar ataxia in childhood (Wells and Shy, 1957;Boder and Sedgwick, 1958) and telangiectasis secondary to venule dilatation (Louis-Bar, 1941;Williams et al, 1960). These children often manifest impaired immune competence.…”

mentioning

confidence: 99%

Impaired in vitro lymphocyte transformation in patients with ataxia-telangiectasis.

Oppenheim¹,

Barlow²,

Waldmann³

et al. 1966

BMJ

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mentioning

confidence: 99%

Impaired in vitro lymphocyte transformation in patients with ataxia-telangiectasis.

Oppenheim¹,

Barlow²,

Waldmann³

et al. 1966

BMJ

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Coats disease. A condition that may mimic the Sturge-Weber syndrome

Allen¹

1973

Archives of Dermatology

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Ataxia-Telangiectasia Associated with Hypogammaglobulinemia

Gutmann¹,

Lemli²

1963

Archives of Neurology

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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 occur-rence, 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 three patients. A review of the literature yielded three additional cases of ataxia-telangiectasia associated with hypogammaglobulinemia.6"8 Report of CasesCase 1.-This eight-year-old white girl (Fig. 1) had been admitted to University Hospitals at regular intervals for a total of eight occasions, since the age

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Ataxia-Telangiectasia

Cited by 21 publications

References 4 publications

Impaired in vitro lymphocyte transformation in patients with ataxia-telangiectasis.

Impaired in vitro lymphocyte transformation in patients with ataxia-telangiectasis.

Coats disease. A condition that may mimic the Sturge-Weber syndrome

Ataxia-Telangiectasia Associated with Hypogammaglobulinemia

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