MRI brain shows:
1. Moderate grade diffuse cerebellar atrophy. No associated Brainstem or cerebral cortical atrophy.
2. Multiple punctate low signal intensity foci on GRE in bilateral cerebral white matter.
Imaging diagnosis: Ataxia-telangiectasia.
Ataxia Telangiectasia
A rare multisystem condition with autosomal recessive inheritance, incidence at around 1:40,000-300,000 live births, sometimes classified as a phakomatosis.
Characterized by multiple telangiectasias, cerebellar ataxia, pulmonary infections and immunodeficiency.
Diagnostic clue on MRI brain is diffuse cerebellar atrophy, compensatory enlargement of the fourth ventricle, micro hemorrhages secondary to capillary telangiectasia.
Main clinical features include cerebellar ataxia progressive and present in all cases, associated oculomucocutaneous telangiectasias, susceptibility to pulmonary infection due to immunodeficiency.
Genetics, results from a defective gene located on chromosome 11q22–23.
Treatment is generally supportive.
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