Denouement and Discussion
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,
Gellis SS, Feingold M, Boder E, Sedgwick R. Picture of the Month. Am J Dis Child. 1969;117(3):317–318. doi:10.1001/archpedi.1969.02100030319011
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