Louis-bar syndrome (cephalo-oculocutaneous telangiectasis; ataxia-telangiectasia syndrome)

General: Autosomal recessive; thymic abnormality leading to an immunologic deficiency has been suggested as the cause; chromosomal translocations are found i 747g63h n 5% to 10% of peripheral T cells from most patients.

Ocular: Rapid blinking in upward gaze; 'pseudo-ophthalmoplegia'; fixational nystagmus (see Roth-Bielschowsky Syndrome) halting intermittently, mainly on lateral and upward gaze; on head turning, eyes are involuntarily directed to opposite side with slow return to the primary position; ocular motor apraxic movement; loss of optokinetic responses; poor convergence ability; telangiectasias of anterior segment and sclera; fine, bright, symmetrical red streaks of the temporal and nasal conjunctiva (usually first seen at age 4 to 6 years); prominent veins in canthal regions of conjunctiva.

Clinical: Progressive cerebellar ataxia; slow and scanning speech; mental retardation; cutaneous telangiectasis and fine spots of pigmentation; recurrent sinopulmonary infections; hypotonia; diminished growth; cutaneous telangiectasis of ears, cheeks, and antecubital space; deficiency of IgA; lymphoreticular malignancy; high cancer risk in children with progressive cerebellar ataxia most commonly lymphoma (B-cell type) or leukemias.

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Harding AE. Cerebellar and spinocerebellar disorders: ataxia-telangiectasia. In: Bradley WG, et al., eds. Neurology in Clinical Practice. vol. II, 2nd ed. Boston: Butterworth-Heinemann, 1995:1778-l780.

Louis-Bar MME. Sur un Syndrome Progressif Comprenant des Telangiectasies Capillaires Cutanee et Conjonctivales Symetriques, a Disposition Naevoide et des Troubles Cerebelleux. Confinia Neurol 1941; 4:32.