18th August 2024

You see a 16 year old in your clinic. She has been referred following a recent admission

You see a 16 year old in your clinic. She has been referred following a recent admission where she had right-sided weakness and impaired vision. Her blood tests had been normal except for a lactate of 3.8. The symptoms improved spontaneously and she was discharged. She has had several previous episodes of vomiting and headache with visual disturbance. She had been well until she was 12 when she first presented with vomiting, loss of consciousness and reduced hearing. When you see her, you note that she is short at 148cm, she has some residual weakness in her limbs, profound deafness and bilateral visual disturbance. What is the likely diagnosis?

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