Case of April 2009

Clinical History:

A 12 years-old-girl presented with ataxia and poor co-ordination since the age of 3. She was born full-term by spontaneously normal delivery. Her early developmental milestones were normal up to around 3 years old. There was progressive neurological deterioration after several admissions for febrile convulsion. Physical examination showed intentional tremors, muscle wasting and increased tone over bilateral upper and lower limbs. Her cognitive function was preserved.

She has consanguineous patients. Her paternal and maternal grandparents are sisters.

MRI brain was performed.

MRI:
T2W Axial

FLAIR Axial