Carnitine Responsive Lipid Storage Myopathy: A Case Report (P2.040)

Abstract

INTRODUCTION: Carnitine is a cofactor necessary for the transport of long chain fatty acids from the mitochondrial membrane. Muscle carnitine deficiency is characterized by muscle weakness and lipid storage myopathy. CASE REPORT: A 23-year-old male patient presented with arm and weakness in the legs, difficulty walking, speaking and swallowing disorders complaints since 3 months. He began vomiting and fatigued by effort, his complaints regressed after 1 or 2 days resting. His neurological examination revealed that; proximal of extremities muscle strength were 4/5 according to MRC scale (medical research council), neck flexors and extensors and facial muscles had paresis, deep tendon reflexes were hypoactive, plantar responses were flexor. Biochemistry was; creatine kinase (CK): 237 U/L (24-190), Lactate dehydrogenase (LDH): 769 U/L (0-248), Aspartate Aminotransferase (AST): 116 U/L (10-40), Alanine Aminotransferase (ALT)): 49 U/L (10-40). Needle EMG examination revealed that; myogenic MUPs (motor unite potentials) are accompanied by acute denervation potentials in the right rectus femoris, deltoid and trapezius muscles. Muscle biopsy was performed and morphological findings consistent with lipid storage myopathy. L - Carnitine 500 2x1 treatment had. One month later patient admitted to our outpatient clinic. His complaints were declined and neurological examination was normal. DISCUSSION: In this case report we discussed a lipid storage myopathy patient with neurologic examination, laboratory, electrophysiological findings and pathology result whom well responded the carnitine treatment.

Disclosure: Dr. Demirkaya has nothing to disclose. Dr. Cetiz has nothing to disclose. Dr. Akgun has nothing to disclose. Dr. Kurt has nothing to disclose. Dr. Oz has nothing to disclose. Dr. Ulas has nothing to disclose.