16th February 2024

A 10-year-old female presented with ataxia and difficulty in mobilising since childhood

A 10-year-old female presented with ataxia and difficulty in mobilising since childhood. She had delayed motor skills at age 2 with poor balance and coordination. She also had recurrent infections with recurrent otitis media and pneumonia. Ocular telangiectasia is present on examination. Blood tests showed raised AFP levels, lymphopenia and reduced levels of IgG and IgA with normal IgM levels. MRI of her brain showed cerebellar atrophy.

Which of the following is the underlying diagnosis?

Select the SINGLE most appropriate option from the list below. Select ONE option only.