Brachial PlexusClinical case and images provided by Avneesh Chhabra, M.D., Johns Hopkins University School of Medicine, Baltimore, USA

27-year-old women with irritable bowel syndrome.

• Multiple masses found in abdominal CT
• Interpreted as Neurofibromatosis
• Referred to Johns Hopkins Neurofirbomatosis clinic for further evaluation
• Clinically found to have hand weakness bilaterally
• EMG showed diffuse abnormality suggesting hereditary neuropathy or CIDP
• Referred for Brachial Plexus MR Neurography for further evaluation

• Diffusely enlarged and hyperintense bilateral brachial plexus segments
• Symmetrical involvement
• No abnormal enhancement
• DTI - Symmetrically low FA values (0.2) and high ADC values - 1.9 and 2.0. Tractography shows mildly disrupted tracts
• Diagnosis - Charcot Mary Tooth Disease (CMT)

• MR Neurography provided initial diagnosis for abnormality
• MR Neurography served as pre-intervention road map for biopsy 

• Final diagnosis - CMT type 1A
• The diagnosis was proven from subsequent genetic testing and surgical biopsy of a intercostal lesion