We have located links that may give you full text access.
CASE REPORTS
JOURNAL ARTICLE
Cranial nerve involvement in Charcot-Marie-Tooth Disease.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia 2017 March
BACKGROUND: Charcot-Marie-Tooth Disease (CMT) is a rare disorder with less than 200,000 cases reported in the US every year, making diagnosis challenging. MR and CT imaging has become more common in the evaluation of CMT to identify areas of disease involvement.
CASE REPORT: A 27-year-old female from Guatemala with a past history of polio initially presented to the emergency room for necrotizing pneumonia. MRI images demonstrated smoothly enlarged, mildly enhancing trigeminal nerves. CT showed bony widening of the skull base foramina. The patient was noted to have atrophy and weakness of her extremities with decreased sensation, distal more than proximal, and pes cavus. An electromyogram demonstrated absent response in the right median, ulnar, peroneal, and tibial motor studies and bilateral radial and right sural sensory studies. MRI of the spine demonstrated smooth, symmetric enlargement and mild enhancement of the distal spinal nerve roots and cauda equine.
DISCUSSION: CMT is a group of disorders with a wide range of clinical presentations and abnormalities. Cranial nerve involvement is infrequently described in CMT 1A. In our case and prior studies, there does not appear to be a correlation between cranial nerve involvement and symptoms. Trigeminal neuralgia has been described in patients in CMT, but is not common and was not seen in our patient despite abnormal trigeminal nerve findings on imaging. Our patient also demonstrated involvement of the facial nerve without facial muscle weakness. Clinical features are key in distinguishing CMT 1A from other forms of HMSN.
CASE REPORT: A 27-year-old female from Guatemala with a past history of polio initially presented to the emergency room for necrotizing pneumonia. MRI images demonstrated smoothly enlarged, mildly enhancing trigeminal nerves. CT showed bony widening of the skull base foramina. The patient was noted to have atrophy and weakness of her extremities with decreased sensation, distal more than proximal, and pes cavus. An electromyogram demonstrated absent response in the right median, ulnar, peroneal, and tibial motor studies and bilateral radial and right sural sensory studies. MRI of the spine demonstrated smooth, symmetric enlargement and mild enhancement of the distal spinal nerve roots and cauda equine.
DISCUSSION: CMT is a group of disorders with a wide range of clinical presentations and abnormalities. Cranial nerve involvement is infrequently described in CMT 1A. In our case and prior studies, there does not appear to be a correlation between cranial nerve involvement and symptoms. Trigeminal neuralgia has been described in patients in CMT, but is not common and was not seen in our patient despite abnormal trigeminal nerve findings on imaging. Our patient also demonstrated involvement of the facial nerve without facial muscle weakness. Clinical features are key in distinguishing CMT 1A from other forms of HMSN.
Full text links
Related Resources
Trending Papers
Heart failure with preserved ejection fraction: diagnosis, risk assessment, and treatment.Clinical Research in Cardiology : Official Journal of the German Cardiac Society 2024 April 12
Proximal versus distal diuretics in congestive heart failure.Nephrology, Dialysis, Transplantation 2024 Februrary 30
World Health Organization and International Consensus Classification of eosinophilic disorders: 2024 update on diagnosis, risk stratification, and management.American Journal of Hematology 2024 March 30
Efficacy and safety of pharmacotherapy in chronic insomnia: A review of clinical guidelines and case reports.Mental Health Clinician 2023 October
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app