Neuro-metabolic investigations


Extensive neuro-metabolic investigations consisting of testing of the cerebrospinal fluid, serum, and urine. The cerebrospinal fluid was significant for increased levels of glial fibrillary acidic protein, αβ-crystallin and heat shock protein 27.


How would you like to proceed?

A. Schedule a family meeting to discuss the diagnosis, as no further workup is required 
B. Reevaluation and further workup of the patient in 1 year
C. MRI of the brain
D. Schedule brain biopsy with histological evaluation and electron microscopy 
E. Perform mutational analysis for exon 1, position 249 of glial fibrillary acidic protein cDNA 
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