5th March 2024

A 12-year-old female presents to the genetics clinic after a review with the neurologist

A 12-year-old female presents to the genetics clinic after a review with the neurologist. She was noted to have difficulty walking since she was 3.5 years old and maintaining her standing balance. She has a narrow-based gait and poor fine motor skills. She has difficulty in the initiation and pronunciation of words. The patient has had recurrent sinus and chest infections throughout her childhood. She has also been recently diagnosed with non-Hodgkin’s lymphoma and is currently receiving treatment from a haematologist. Today’s examination revealed telangiectasia around her conjunctiva, ear and face. Blood tests revealed a raised AFP level.

Which of the following likely represents the underlying diagnosis?

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