The Zebra Files: Can You Save the Baby?

Each week we present to you a rare medical case that defies common diagnosis and procedure.

Welcome to The Zebra Files.

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A 2-year-old patient is referred to your neurology clinic for management of recent onset of seizures. Upon review of the patient’s records, you discover a documented history of failure to thrive, and psychomotor retardation.

 How would you like to proceed in the management of this patient?

A. MRI of the brain 

B. Neurological examination with follow-up in 6 months

C. Neuro-metabolic investigations

D. Schedule the patient for an urgent brain biopsy

E. Schedule a family meeting to discuss the diagnosis, as no further workup is required