ATAXIA - TELANGIECTASIA Six Cases

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Abstract
Progressive ataxy with cephalo-oculocutaneous telangi-ectasia, the so-called Louis-Bar syndrome, must be regarded as a special clinical entity, distinct from other forms of progressive ataxia. The important distinguishing features are: (1) early onset (usually prior to or in the second year of life, (2) presence of telangiectases, (3) recurrent catarrhs followed by chronic bronchitis and bronchiectasis, (4) mental deficiency progressing only slowly, if present at all, (5) oligomimia, (6) retarded growth in length; the main feature pathologically is the almost elective degeneration of the cerebellar cortex; finally, there is absence of posterior column deficit or pyramidal tract signs, no kyphoscoliosis or foot deformity. This clinical entity may be classified in the group of phakomatoses together with neurofibromatosis (von Recklinghausen''s disease), tuberous sclerosis, von Hippel-Lindau disease and Sturge-Weber-Krabbe''s disease.