Neurológia pre prax 1/2010

A case of motor and sensory neuropathy and cerebrospinal multiple sclerosis in one patient

Patients with Charcot-Marie-Tooth (CMT) disease may have demyelinating involvement also within the central nervous system. An MRI scan of the brain then shows a finding similar to that in patients with cerebrospinal multiple sclerosis (MS). Similarly, MS patients may develop peripheral nerve injury analogous to that in CMT. However, immunohistochemical examination of the peripheral nerve can distinguish between these two types of injury. We recorded a case of a 38-year-old man presenting with upper limb amyotrophy, flexed posture of the fingers and wrist with a bilateral restriction in movement, hypotrophy of the lower limb periphery, flexed leg position, and muscle wasting. Electromyographic as well as histological tests indicated motor and sensory axonal-demyelinating polyneuropathy corresponding to a hereditary type of polyneuropathy. In addition, he had a history of recurrent retrobulbar neuritis and paraesthesia attacks at various sites with a good effect following a therapy with corticoids. The MRI finding of the brain and cervical spinal cord, VEP as well as CSF examination are clearly indicative of MS. A novel, or uncommon, gene mutation is considered in this patient, and what is more, in a rare coincidence with MS.

Keywords: Charcot-Marie-Tooth disease, cerebrospinal multiple sclerosis, polyneuropathy, electromyography.