Ataxia-telangiectasia: apropos of a case with pes cavus and distal neural amyotrophy

This article reports a case of ataxia - telangectasia showing uncommon skeletal abnormalities (dorsal scoliosis, pes cavus) and a progressive distal amyotrophy with a pattern of involvement quite similar to the one found in Charcot-Marie.Tooth disease. The association of skeletal anomalies usually found in Friedreich's ataxia, and of neurogenic muscular atrophy, with a typical picture of ataxia - telangectasia, supports the opinion of those authors who classify the syndrome among the hereditary, spinocerebellar degenerations rather than among the phakomatosis.