Basma AlYamany 1, Chitra Prasad 2, Sharan Goobie 3 Craig Campbell 2,4, Shannon Venance 4, Robert Hammond 1,4

1 Department of Pathology and Laboratory Medicine, Western University
2 Department of Pediatrics (Division of Medical Genetics), Western University
3 Department of Pediatrics (Division of Medical Genetics), Dalhousie University
4 Department of Clinical Neurological Sciences, Western University


A 10-year-old female, presented with several months of progressive muscle aches and pains, worsening headaches, fatigue and abdominal pain. She was known to have spina bifida and hydrocephalus antenatally. Her past medical and surgical history include; surgical myelomeningocele repair, shunt placement for hydrocephalus, tethered cord, and decompression for Chiari type 2 malformation. She was able to walk but unable to keep up with her peers in physical activities. She is cognitively normal.

On examination, she had mild weakness (MRC grade 4 to 4+) in upper and lower extremities, normal tone, diffusely reduced reflexes with upgoing plantar reflexes bilaterally.

What is/are?

1 : What is the differential diagnosis for the biopsy?

Reveal Diagnosis

coming soon