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Last Update: 04/01/2024 02:30 AM

Current Deck: Neurology::Headache

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Electron Microscope shows onion bulb formation; two myelinated fibers surrounded by Schwann cell processes. What is the most likely diagnosis? {{c1::Charcot Marie Tooth (CMT1)}}
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Charcot Marie Tooth (CMT1)
  • 1A: caused by point mutations on PMP22 (peripheral myelin protien 22) in chromosome 17p  
  • 1B: point mutation in P0 gene for myelin protein 0 on chromsome 1

EMG/NCV:
  • SNAPs are absent. Motor conduction shows uniform slowing w/ temporal dispersion; NCV reduced
Electron Microscope:
  • onion bulb formation; two myelinated fibers surrounded by Schwann cell processes
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