[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.


METHODS
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.
Spang
S
S
Augenklinik und Poliklinik, Universität des Saarlandes.
Lindemuth
R
R
Käsmann
B
B
Ruprecht
K W
KW
D000328:Adult; D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics*; D001284:Atrophy; D002196:Capillaries / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D003228:Conjunctiva / Q000098:blood supply*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D015835:Ocular Motility Disorders / Q000175:diagnosis / Q000235:genetics*
Zur Klinik der Ataxia teleangiectatica (Louis-Bar-Syndrom).