ATAXIA-TELANGIECTASIA

Abstract

This paper based on eight cases and a necropsy report presents a familial symptom complex speaking strongly for a syndrome entity, for which the term ataxiatelangiectasia was proposed by the authors in a preliminary report. The main features are progressive cerebellar ataxia with onset in infancy; progressive telangiectasia of the bulbar conjunctivae, simulating conjunctivitis, and of the butterfly area of the face; frequent sinopulmonary infection, including bronchiectasis; and peculiarity of eye movements, simulating ophthalmoplegia. The essential components of this familial syndrome are the ataxia and the telangiectasia, the most striking identifying feature being the characteristic telangiectases of the bulbar conjunctivae. Retardation of statural growth with significant dwarfing is a frequent feature. Intelligence is essentially normal, although difficulty with tests dependent upon visualmotor co-ordination is consistently observed from early childhood; test results show wide scatter and I.Q. scores tend to drop below normal range as the ataxia progresses. The available pneumoencephalograms give evidence of cerebellar atrophy. The necropsy provides microscopic evidence of progressive, apparently primary, diffuse, cortical cerebellar degeneration and of enlarged venules in the cerebellar leptomeninges and white matter, without significant changes in the spinal cord. Recent tests of blood and urine of four children have failed to show evidence of an aberration in metabolism of iron or copper. Urinary concentrations of lead have also been within normal limits. Electrophoretic studies of serum in two patients have demonstrated that concentrations of gamma globulin are normal. Ataxia-telangiectasia resists precise classification among the known entities of heredocerebellar ataxia. It is believed, however, that it may be properly viewed as a fifth entity in the group of phakomatoses, which presently is comprised of Von Recklinghausen's neurofibromatosis, tuberous sclerosis, Von Hippel-Lindau's disease and Sturge-Weber syndrome. Awareness of the symptom complex of ataxia-telangiectasia will enable the clinician to recognize its varied and seemingly unrelated manifestations as those of a single clinical entity and will eliminate extensive and unrewarding diagnostic procedures. Diagnosis will permit early recognition of the unusual susceptibility to sinopulmonary infections, so that appropriate antibiotic therapy can be promptly instituted in the management of acute episodes, or prophylactically. With the possible exception of a clinical report of a single, nonfamilial case published in French in 1941, no reports of this syndrome were found in the literature. Since the publication of our preliminary paper, however, an as yet unpublished report based on four cases similar to those reported here and two necropsies was given by Biemond, at the First International Congress of the Neurological Sciences in July, 1957.