Ataxiatelangiectasia

Synonym(s)

Louis-Bar syndrome; Boder-Sedgwick syndrome

Definition

Autosomal, recessive, multisystem disorder characterized by progressive neurological impairment, cerebellar ataxia, variable immunodeficiency, impaired organ maturation, x-ray hypersensitivity, ocular and cutaneous telangiectasia, and a predisposition to malignancy

Pathogenesis

Unclear; possibly associated with dysregu-lation of the immunoglobulin gene super-family, which includes genes for T-cell receptors; abnormal sensitivity to x-rays and certain radiomimetic chemicals, possibly leading to chromosomal abnormalities, infections, and malignancies

Clinical manifestation

Ocular and cutaneous telangiectasia; neurological abnormalities, mainly ataxia, abnormal eye movements, and chore-oathetosis

Differential diagnosis

Telangiectatic diseases: hereditary hemor-rhagic telangiectasia; chronic liver disease; benign essential telangiectasia; sun damage; neurologic disorders; Friedreich disease; cerebral palsy; familial spinocerebel-lar atrophies; GM1 and GM2 gangliosi-doses; progressive rubella panencephalitis; subacute sclerosing panencephalitis; postinfectious encephalomyelitis; cerebel-lar tumor

Therapy

No effective therapy

References

Gatti RA (1995) Ataxia-telangiectasia. Dermato-logic Clinics 13(1):1-6

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