Ataxia Telangiectasia
Incidence
1:40.000 to 1:100.000 births.
Clinical Characteristics
Degenerative disease, affect many systems. Sx. start 2nd year of life. This condition is considered a neurocutaneous syndrome or phakomatosis. First sx. are mild ataxia & slurred speech. Apraxia of eye movem. Telangiectasia on eyes, ears & cheeks after age 6 yrs. 80% have inmunodeficiency producing respiratory infections. Defic. IgA & IgE inmunoglob. Normal IQ. Some may have mild Diabetes mellitus, premature aging, choking, drooling & slow growth.Choreoathetosis. Tendency to develop malignancy. Progressive. Incurable. Cerebellar degeneration.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
Elevated serum alphafetoprotein after 2 yrs, elevated plasma carcinoembrionic antigen, low serum IgA, IgG and/or IgE (80%), spontaneous chromosome breaks& rearrangements in lynphocytes in vitro & cultured fibroblasts.