[Clinical aspects of ataxia teleangiectatica (Louis-Bar syndrome)].

BACKGROUND

Ataxia telangiectasia is an autosomal recessive inherited multisystem disease of childhood characterized by progressive cerebellar ataxia, oculo-cutaneous telangiectasia, immunological defects with increased susceptibility to infection and malignant neoplasms.

PATIENT

A 20-year-old patient with ataxia telangiectasia (Louis-Bar syndrome), demonstrating the typical features of this hereditary disease, is described. The ophthalmological findings showed telangiectasia of the horizontal conjunctival vessels in the exposed bulbar conjunctivae and oculomotor signs with pathological pursuit and command movements, dissociated nystagmus, failure of gaze holding and convergence.

RESULTS

The ataxia is the first symptom and becomes apparent when the child starts to walk. The pathognomonic telangiectasia at the light-exposed areas of the bulbar conjunctiva point the way to the diagnosis. There is no specific treatment for this disease.

CONCLUSIONS

The ophthalmologist is able to confirm the clinical diagnosis by demonstrating the telangiectasia. Due to the increased disposition to malignant neoplasms regular check-ups should be performed.