Louis-Bar's syndrome

A degenerative brain disease characterised by progressive cerebellar ataxia, athetoid movements, nystagmus, slow dysarthric speech, telangiectasis of the bulbar conjunctiva, recurrent respiratory infections, mental retardation (50%) and an increased incidence of lymphoreticular malignancies. It affects both sexes equally, with onset at the age of about four years. Death usually occurs in adolescence or early adulthood of a pulmonary infection or a lymphoreticular malignant tumour. It is transmitted as an autosomal recessive trait.

The first description of patients with ataxia-telangiectasia was published in French in 1926 by the internist Ladislav Syllaba (1868-1930) and the neurologist Kamil Henner (1895-1967). They reported 3 adolescent Czech siblings with progressive choreoathetosis and ocular telangiectasia. Denise Louis-Bar in 1941 reported a 9-year-old girl with progressive cerebellar ataxia, mental retardation and bilateral oculocutaneous telangiectasia.

In 1958, Elena Boder and Robert P. Sedgwick studied 8 cases from 5 unrelated families, including 6 familial cases. They emphasized the heredofamilial nature of the disease and the susceptibility of these patients to sinopulmonary infections. Boder and Sedgwick introduced the term ataxia-telangiectasia.

• L. Syllaba, K. Henner:
  Contribution à l'étude de l'indépendance de l'athétose double idiopathique et congénitale. Atteinte familiale, syndrome dystrophique, signe du résau vasculaire conjonctival, intégrité psychique.
  Revue neurologique, 1926, 1: 541-560.
• D. Louis-Bar:
  Sur un syndrome progressif cormprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoïde et des troubles cérébelleux.
  Confinia Neurologica, 1941, 4: 32-42.
• E. Boder, R. P. Sedgwick:
  Ataxia-telangiectasia: a familial syndrome of progressive cerebellar ataxia, oculcutaneous telangiectasia and frequent pulmonary infection.
  Pediatrics, April 1958, 21(4): 526-554.
• S. Pelc, H. Vis:
  Ataxie familiale avec télangiectasies oculaires (Syndrome de D Louis Bar).
  Acta neurologica et psychiatrica Belgica, Bruxelles, 1960, 60: 905-922.
• E. Boder, R. P. Sedgwick:
  Ataxia-telangiectasia: a review of 101 cases.
  Proc Third Int Study Group, Child Neurol, Cerebral Palsy, Oxford, 1962. Heinemann Medical Books, London.
• E. Boder, R. P. Sedgwick:
  Ataxia telangiectasia : A review of 101 cases. Little club clinics in developmental medicine, No 8. London. Heinemann Books 1963: 110-118.