Sisters with clinically mild encephalopathy with a reversible splenial lesion (MERS)-like features; Familial MERS?

• Published in: Journal of the neurological sciences Vol. 290; no. 1; pp. 153 - 156
• Main Authors: Imamura, Takuji, Takanashi, Jun-ichi, Yasugi, Jun, Terada, Hitoshi, Nishimura, Akira
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier B.V 15-03-2010; Elsevier
• Subjects: Adenoviridae Infections - complications; Asian Continental Ancestry Group; Biological and medical sciences; Brain - pathology; Brain - physiopathology; Brain Diseases, Metabolic - genetics; Brain Diseases, Metabolic - pathology; Brain Diseases, Metabolic - virology; Brain Edema - metabolism; Brain Edema - physiopathology; Child; Child, Preschool; Clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS); Corpus Callosum - pathology; Corpus Callosum - physiopathology; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Diffusion; Diffusion Magnetic Resonance Imaging; Encephalitis - genetics; Encephalitis - pathology; Encephalitis - virology; Encephalopathy; Familial; Female; Genetic Predisposition to Disease - genetics; Humans; Inheritance Patterns - genetics; Japan; Medical sciences; Nerve Fibers, Myelinated - metabolism; Nerve Fibers, Myelinated - pathology; Neurology; Reversible; Siblings; Splenium; Syndrome; Water-Electrolyte Balance; Japan; Splenium; Reversible; Diffusion; Clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS); Familial; Encephalopathy; Encephalitis; Nervous system diseases; Central nervous system disease; Cerebral disorder
• ISSN: 0022-510X; 1878-5883
• DOI: 10.1016/j.jns.2009.12.004

Abstract We first report sisters presenting with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS)-like features, i.e., mild and reversible neurological manifestations, and MRI finding of a reversible lesion with transiently reduced diffusion in the corpus callosum associated with symmetrical white matter. The distributions of the white matter lesions (more extensive) and Na levels (normal) were different from those reported for sporadic MERS patients (subcortical white matter close to the central sulci, and hyponatremia), which suggested that the pathophysiology of the sisters with MERS-like features might be different from that of sporadic MERS. Some genetic factors might be involved in MERS, especially in some patients with extensive white matter lesions.