Ataxia-telangiectasia (AT) is a genetically determined disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia and recurrent sinopulmonary infections. Seven cases are reported together with necropsy findings in two patients. Ocular signs are prominent and in addition to bulbar conjunctival telangiectasia include nystagmus, ocular motor apraxic movements, strabismus, frequent loss of optokinetic responses, and poor convergence ability. The principle pathological changes were in the central nervous system, respiratory system, thymus, lymphatics and gonads. Four cases showed an absence or deficient gamma 1A globulin (1A). There were 2 sets of siblings in this series. Since a deficiency in 1A increases the susceptibility to infection, bronchitis and pneumonia constitute a serious threat for these patients. Lymphoreticular malignancies are also a common cause of death.
Harley RD, Baird HW, Craven EM. Ataxia-TelangiectasiaReport of Seven Cases. Arch Ophthalmol. 1967;77(5):582-592. doi:10.1001/archopht.1967.00980020584004