Presentation
Cerebellar symptoms. Consanguineous parents.
Patient Data
Moderate atrophy of the superior vermis. Suspected minimal cerebellar hemisphere atrophy.
Striated hypointense anteroposterior bands in the pons on T2 and FLAIR sequences.
Blake's pouch cyst noted. Cystic structure in temporal horn of right lateral ventricle, likely a choroid plexus cyst as it is more lateral than a hippocampal fissure cyst. Normal MR spectroscopy for age.
Minimal progression of superior vermian and cerebellar hemisphere atrophy.
Striated hypointense anteroposterior bands in the pons on T2 and FLAIR sequences are less apparent but still seen.
Case Discussion
A SACS gene mutation was confirmed. Parents had heterozygous mutations in the SACS gene. Siblings were not affected.
Confirmed case of Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Case courtesy of the pediatric neurology team at Hôpital Femme Mère Enfant in Lyon, France.
Unable to process the form. Check for errors and try again.