Table of Contents
Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Metachromatic Leukodystrophy | 2A0 Case 2 History
Case 2 History ---- The patient first presented as a four and a half year old boy with a two year history of increased muscle weakness, difficulty in walking secondary to poor coordination and weakness. Neuroconductive studies showed borderline decreased conduction velocity in ulnar, median and peroneal nerves. At the age of six he was admitted after a clinic appointment secondary to an inability to walk. The mother reports this symptom had an abrupt onset approximately two weeks prior, occurring overnight. Prior to his inability to walk, he had been ambulatory but had gait unsteadiness and frequent falls. His past medical history was significant primarily for his neurologic condition. He had a sural nerve biopsy which revealed a loss of myelinated axons and presence of stored material. His nerve conduction velocities were borderline slow. His CPKs, lactates, and CSF as well as acetylcholine receptor antibodies were all unremarkable. The patient also exhibited some mild developmental delay; however, he was never formally tested. The patient was in a learning disability class at the time of admission. At the time of a second nerve and muscle biopsy he was awake, alert and followed simple commands. Naming was intact. He was able to count slowly to 10. He did not know his ABCs. Speech was slurred. ---- The second biopsy is shown in the following images which was interpreted as compelling evidence of metachromatic leukodystrophy.
