RT Journal
A1 Gellis SS, Feingold M, Boder E, Sedgwick R
T1 PIcture of the month
JF American Journal of Diseases of Children
JO American Journal of Diseases of Children
YR 1969
FD March 1
VO 117
IS 3
SP 317
OP 318
DO 10.1001/archpedi.1969.02100030319011
UL http://dx.doi.org/10.1001/archpedi.1969.02100030319011
AB Denouement and Discussion 
    Ataxia-Telangiectasia 
    Manifestations 
    Major manifestations are cerebellar ataxia with onset in infancy; oculocutaneous telangiectasia; proneness to sino-pulmonary infections and to lymphoreticular malignancy; apraxia of eye movements, simulating ophthalmoplegia; growth failure; abnormal thymiclymphatic immune mechanism; and a relentlessly progressive course.The essential components of the syndrome are the ataxia and the telangiectasia, the diagnostic key being the characteristic telangiectases of the bulbar conjunctivae.The most prominent neurological manifestations are cerebellar and extrapyramidal. The ataxia, clearly of cerebellar type, is steadily progressive and accompanied by increasing fatiguability on   walking. Most of the patients require a wheelchair before adolescence, although mild and more slowly progressive cases have been observed.The telangiectasia has a later onset than the ataxia, appearing usually by the age of 3 years. It is first noted in the exposed portion of the bulbar conjunctivae, simulating conjunctivitis. Also steadily progressive, the telangiectasia typically involves the external ears,