Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL) A Case With Long-term Follow-up

Introduction: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is caused by a recessive mutation in the DARS2 gene and can be recognized by specific magnetic resonance imaging patterns. Case Report: A girl who developed leg tremors at age 4 years was diagnosed at age 17 years with LBSL -after evolution of ataxia and sensory loss. Examination at age 29 revealed mild spastic gait, ataxia, and sensory loss, and she did not require assistance to walk. Conclusion: This report illustrates the clinical and magnetic resonance imaging characteristics of a slowly progressive long-term course of childhood-onset LBSL

Why electrophysiological reassessment is needed? The experience of our laboratory - A cross-sectional study

Introduction: Requesting repetition of an electrodiagnostic examination (EDX) for follow-up and/or diagnostic verification is common in the daily practice of a reference center. Objective: This study aimed to evaluate demographical and electrophysiological characteristics of the patients who were referred to a reference electrophysiology laboratory for reassessment, to explore the underlying reasons, and motives for ordering a reassessment. Methods: Patients who had at least one EDX study within the last year in one of the two different time periods (winter and summer) were included in the study. Their demographical features, preliminary diagnosis, and electrophysiological findings were assessed and compared with their previous EDX interpretations. Results: Thirty-five (14 female, 21 male) patients (7,7%) out of 457 patients from the winter period (November 11, 2018-December 12, 2018) and 38 (20 female, 18 male) patients (7,8%) out of 487 patients from the summer period (July 01, 2019-August 08, 2019) were included in the study. Age, gender, preliminary diagnosis, and the number of previous electrophysiologic tests were statistically similar between the two groups. The most common reason for reassessment was to verify or to follow-up on a diagnosis of motor neuron disease or polyneuropathy. Compared to the summer group, the patients who had previous EDX in a different center were more common in the winter group, mean duration between EDX studies was also shorter. Conclusion: In this study, we have inspected the patients referred to our laboratory within two different time frames in a year for a repeat EDX study. It was observed that the number of patients who underwent a repeat EDX was relatively low, and there was no significant difference not only in the preliminary diagnosis but also in the electrophysiological findings