Features of the Myelopathy in Patients with Electrical Burn

BACKGROUND: Electrical injury can cause serious damage to any part of the nervous system. However spinal cord injury by electricity itself rarely develops. If develops, it can be either electrical myelopathy (immediate or delayed), spinal atrophic paralysis and/or amyotrophic lateral sclerosis-like disease. We are going to report the clinical, electrophysiological and radiographic features of electrical myelopathy (immediate or delayed) of 18 patients. METHODS: We retrospectively reviewed the clinical, electrophysiological and radiographic data of patients who were diagnosed as electrical myelopathy. RESULTS: Among 1,306 patients with electrical injury, 18 patients (1.4%) had electrical myelopathy. Fifteen patients (83%) had motor symptoms and 16 patients (89%) had sensory symptoms or signs. It is interesting for seven patients to appear their neurological symptoms or signs with a day after electrical injury. Somatosensory evoked potentials (SEP) which were done in 17 patients showed abnormal central conduction defects in 12 patients (70.5%). Magnetic resonance images (MRI) of spinal cord, however, did not show any abnormalities in all the tested patients (15 patients). CONCLUSIONS: Clinically, electrical myelopathy can cause not only motor but also sensory symptoms or signs. Interestingly, there were several immediate as well as delayed forms of electrical myelopathy In most patients with electrical myelopathy, SEP was a useful method to detect objective abnormalities but MRI was not.

A Case of Krabbe Disease Confirmed by Identification of Mutations in the Galactocerbroside beta-galactosidase Gene (GALC)

Krabbe disease is an autosomal recessive disorder involving white matter caused by deficient activity of the lysosomal galactocerebrosidase (GALC). A typical infantile-onset patient shows developmental regression, spasticity, and seizure before 6 months of age, and dies within 2 years. Previously, one case was confirmed by an enzyme test in Korea. We herein report a 2 year-old girl who showed the characteristic clinical course and neuroimaging features of infantile-onset Krabbe disease. Genetic testing identified the compound heterozygote mutations in the GALC gene; NLWE212_215TP/302A.