Caitlin Henry1, Neema Patel2, William Shaffer3, Lillian Murphy4, Joe Park4, Bradley Spieler4. 1. Louisiana State University Health Sciences Center, School of Medicine, New Orleans, LA. 2. Department of Radiology, Mayo Clinic Hospital, Jacksonville, FL. 3. Department of Radiology, Slidell Memorial Hospital, Slidell, LA. 4. Department of Radiology, Louisiana State University Health Sciences Center, New Orleans, LA.
Abstract
BACKGROUND: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder that results in waxing and waning nervous system and muscle dysfunction. MELAS syndrome may overlap with other neurologic disorders but shows distinctive imaging features. CASE REPORT: We present the case of a 28-year-old female with atypical stroke-like symptoms, a strong family history of stroke-like symptoms, and a relapsing-remitting course for several years. We discuss the imaging features distinctive to the case, the mechanism of the disease, typical presentation, imaging diagnosis, and disease management. CONCLUSION: This case is a classic example of the relapse-remitting MELAS syndrome progression with episodic clinical flares and fluctuating patterns of stroke-like lesions on imaging. MELAS is an important diagnostic consideration when neuroimaging reveals a pattern of disappearing and relapsing cortical brain lesions that may occur in different areas of the brain and are not necessarily limited to discrete vascular territories. Future studies should investigate disease mechanisms at the cellular level and the value of advanced magnetic resonance imaging techniques for a targeted approach to therapy.
BACKGROUND:Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder that results in waxing and waning nervous system and muscle dysfunction. MELAS syndrome may overlap with other neurologic disorders but shows distinctive imaging features. CASE REPORT: We present the case of a 28-year-old female with atypical stroke-like symptoms, a strong family history of stroke-like symptoms, and a relapsing-remitting course for several years. We discuss the imaging features distinctive to the case, the mechanism of the disease, typical presentation, imaging diagnosis, and disease management. CONCLUSION: This case is a classic example of the relapse-remitting MELAS syndrome progression with episodic clinical flares and fluctuating patterns of stroke-like lesions on imaging. MELAS is an important diagnostic consideration when neuroimaging reveals a pattern of disappearing and relapsing cortical brain lesions that may occur in different areas of the brain and are not necessarily limited to discrete vascular territories. Future studies should investigate disease mechanisms at the cellular level and the value of advanced magnetic resonance imaging techniques for a targeted approach to therapy.
Authors: Ayman W El-Hattab; Jean W Hsu; Lisa T Emrick; Lee-Jun C Wong; William J Craigen; Farook Jahoor; Fernando Scaglia Journal: Mol Genet Metab Date: 2012-01-24 Impact factor: 4.797
Authors: Victoria Nesbitt; Robert D S Pitceathly; Doug M Turnbull; Robert W Taylor; Mary G Sweeney; Ese E Mudanohwo; Shamima Rahman; Michael G Hanna; Robert McFarland Journal: J Neurol Neurosurg Psychiatry Date: 2013-01-25 Impact factor: 10.154