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March 4, 1961

Ataxia-Telangiectasia (Louis-Bar Syndrome) with Prominent Sinopulmonary Disease

JAMA. 1961;175(9):779-782. doi:10.1001/jama.1961.03040090039007

A baby girl, normal at birth, manifested abnormalities of gait and persistent watery nasal discharge before the age of 2 years. At that age a chronic cough appeared, and pulmonary symptoms predominated until the age of 7. Thereafter, dysfunctions of the central nervous system predominated and progressed so that at the age of 9 she was unable to write, walk, or feed herself. The maxillary and ethmoid sinuses were opaque, and roentgenograms of the thorax showed bilateral pneumonitis and partial collapse of the right middle lobe. Telangiectases were present in the conjunctivae of both eyes. A review of 28 similar cases reported by other authors yielded no explanation of the relationship among these abnormalities of the eyes, cerebellum, lungs, and nasal accessory sinuses.