Cortese, R. Brain and Behavior , 6 : 1—4. National Center for Biotechnology Information , U. Journal List Brain Behav v. Brain Behav. Published online Sep Author information Article notes Copyright and License information Disclaimer. Rosa Cortese, Email: moc. Corresponding author. Email: moc. Brain and Behavior published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Open in a separate window. Figure 1. References No. Conflict of Interest Dr. Notes Cortese, R. References Almsaddi, M. Neuromuscular Disorders , 8 , 87— American Journal of Neuroradiology , 24 , 68— Multiple sclerosis associated with duplicated CMT1A: a report of two cases. Journal of Neurology, Neurosurgery and Psychiatry , 63 , — Case Report. Revue De Medecine Interne , 20 , — Neurology , 65 , — Neurology , 81 , — Schwann cells form the myelin sheath in peripheral nerves by wrapping around them.
Axons send chemical messages that attract Schwann cells and encourage myelin formation, and Schwann cells appear to send messages that nourish and protect axons. The many types of CMT are distinguished by age of onset, inheritance pattern, severity, and whether they are linked to defects in axon or myelin. Within each category, a specific disease associated with a particular gene is assigned a letter e.
While these distinctions are useful, it is important to realize that because of the vast number of genetic defects that can lead to CMT, some people fall on the borders between different types, and many people have specific "subtypes" not detailed here.
Current clinical and experimental data appear to support an association between demyelinating diseases of the peripheral and central nervous systems based on the expression of common proteins that may function as target antigens and therefore direct the immune response against both neurological systems. Charcot-Marie-Tooth disease CMT is a hereditary motor and sensory polyneuropathy which can be either demyelinating Type 1 or axonal Type 2 , with an autosomal dominant, autosomal recessive or X-linked inheritance pattern [ 1 ].
Mutations in the 17p Both genotypes are associated with demyelination of the CNS [ 6 , 7 ]. In these cases, the clinical presentation may mimic multiple sclerosis MS or ischaemic cerebrovascular disease.
The combination of central and peripheral involvement in CMT is of great clinical relevance, since it is necessary to establish a differential diagnosis with a primary demyelinating CNS disease such as MS, mainly due to the different prognosis and the iatrogenicity resulting from inappropriate treatment choices.
We present the case of a patient with recurrent neurological clinical manifestations consistent with demyelinating CNS disease in the context of CMT1A. A male patient who was admitted to the hospital at the age of 47 years due to symptoms consistent with cauda equina syndrome lower limb weakness and numbness, perineal hypoesthesia and bladder dysfunction ; the examination performed on admission revealed abnormally high arches of the feet pes cavus and universal areflexia.
Spinal magnetic resonance imaging MRI revealed the presence of a slightly contrast enhancing spinal cord lesion. Treatment was initiated with dexamethasone, which led to resolution of the symptoms. The follow-up lumbosacral MRI scan was reported as normal. At 53 years of age, the patient was readmitted to our unit due to sudden-onset symptoms consisted ofdysarthria and right hemiparesis.
Tests to rule out ischaemic cerebrovascular disease were negative. Neurophysiological study of visual evoked potentials VEP identified a discrete and symmetrical prolongation of P latency ms.
It was decided to start treatment with bolus of 1 g of 6-methylprednisolone, which led to a clear improvement in neurological deficit. After a year absence, the patient was referred to our unit by his primary care physician for investigation of his polyneuropathy.
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