By Disease Name > Ataxia-telangiectasia

Ataxia-telangiectasia

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•AKA Louis Bar syndrome
•autosomal recessive
•usually present to the neurologist with ataxia at age 2 or 3 (when child begins to walk)

 

SKIN

•telangiectasia:
•develop by age 3 to 6 years old
•bulbar conjunctivae first, followed by ear, eyelid, cheek

 

CNS

•cerebellar ataxia, progressive nystagmus
•most confined to wheel-chair by age 10

 

IMMUNOLOGY

•IgA, IgG2, IgE decreased or absent

 

ddx:  Osler-Weber-Rendu, generalized essential telangiectasia, Bloom syndrome

prognosis:  premature death secondary to lymphoreticular malignancy or infection in the second decade of life