Reversible focal lesions on the splenium of the corpus callosum (SCC) have been reported in patients with mild encephalitis/encephalopathy caused by various infectious agents, such as influenza, mumps, adenovirus, Varicella zoster, Escherichia coli, Legionella pneumophila, and Staphylococcus aureus. We report a case of a reversible SCC lesion causing reversible encephalopathy in nonfulminant hepatitis A. A 30-year-old healthy male with dysarthria and fever was admitted to our hospital. After admission his mental status became confused, and so we performed electroencephalography (EEG) and magnetic resonance imaging (MRI) of the brain, which revealed an intensified signal on diffusion-weighted imaging (DWI) at the SCC. His mental status improved 5 days after admission, and the SCC lesion had completely disappeared 15 days after admission.
Adult ; Alanine Transaminase/blood ; Corpus Callosum/*radiography ; Creatinine/blood ; Electroencephalography ; Encephalitis/complications/*diagnosis ; Hepatitis A/complications/*diagnosis ; Humans ; Magnetic Resonance Imaging ; Male ; Renal Dialysis

Agenesis of Corpus Callosum ; diagnostic imaging ; genetics ; pathology ; Brain ; diagnostic imaging ; pathology ; Chromosomes, Human, Pair 15 ; Humans ; Infant, Newborn ; Magnetic Resonance Angiography ; Male ; Radiography ; Translocation, Genetic ; genetics

OBJECTIVETo investigate the characteristics of a new clinical-image syndrome-mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) of corpus callosum.

METHODThe clinical and imaging features of one pediatric patient with the diagnosis of MERS were analyzed and the clinical and radiologic data of 44 MERS cases which were reported all around the world were also analyzed.

RESULTThe underlying disease of the patient before the onset was respiratory mycoplasma infection. On the second day of the disease course, the patient presented symptoms of encephalopathy. Brain MRI indicated lesions in the splenium of corpus callosum, centrum semiovate and posterior periventricular white matter. And these lesions recovered completely within 3 weeks. Most of the 44 patients diagnosed with MERS were associated with infectious diseases and completely recovered within two weeks. Symptoms included consciousness disturbance, convulsions and dysarthria. In addition to the splenium, brain MRI also showed lesions in genu of corpus callosum, centrum semiovate and white matter of frontal lobe.

CONCLUSIONThe clinical presentations of MERS were sudden onset of symptoms of encephalopathy during acute inflammation. Brain MRI indicated a reversible lesion in the splenium of corpus callosum. Patients recover completely within a few days.

Bacterial Infections ; complications ; Brain ; diagnostic imaging ; pathology ; Child ; Child, Preschool ; Corpus Callosum ; diagnostic imaging ; pathology ; Diffusion Magnetic Resonance Imaging ; Electroencephalography ; Encephalitis ; diagnostic imaging ; pathology ; Female ; Humans ; Male ; Mucocutaneous Lymph Node Syndrome ; complications ; Radiography ; Virus Diseases ; complications

OBJECTIVETo analyze the phenotype and genotype of CMTX1 patients with episodic transient reversible white matter involvement, and delineate the features of brain MRI in the episode and the possible mechanisms.

METHODThree Chinese probands and their family members were sequenced in the coding regions of GJB1. With the other 16 reported CMTX1 patients with episodic transient reversible white matter involvement, the clinical feature of the episodic central nervous system symptoms and the genotypes were reviewed.

RESULTMissense mutations in GJB1 were identified in all 3 probands. In 19 patients with transient reversible white matter involvement, the episodes were manifested as weakness of the limbs, dysarthria, and dysphagia, without disturbance of consciousness or seizures. The episodes lasted for 13 hours (10 min-72 hours) with complete remission in all patients; There were multiple episodes in 9 patients. During the episode, brain MRI showed symmetrical high signals in T2 weighted, Flair and DWI images in periventricular white matter, with predominance in posterior region including splenium of corpus callosum. These changes in imaging were most prominent during or within 1 week after the clinical episode.Significant improvements occurred within 1 month, with complete remission within 4-6 months.No specific locations of mutant amino acids in GJB1 protein were found in these patients with episodic transient reversible white matter involvement.

CONCLUSIONEpisodic transient reversible white matter involvement may present in a small number of patients with CMTX1. Transient edema of oligodendrocytes due to the dysfunction of gap junction may be involved in the pathogenesis. There is no correlation between the location of the mutant amino acids in GJB1 and the occurrence of the episodes.

Adolescent ; Brain ; diagnostic imaging ; pathology ; Brain Diseases ; diagnostic imaging ; etiology ; pathology ; Central Nervous System ; pathology ; Charcot-Marie-Tooth Disease ; complications ; genetics ; pathology ; Child ; Connexins ; genetics ; Corpus Callosum ; pathology ; Genetic Linkage ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation, Missense ; Pedigree ; Phenotype ; Radiography

Aicardi syndrome is a rare neurodevelopmental disease characterised by congenital chorioretinal lacunae, corpus callosum dysgenesis, seizures, polymicrogyria, cerebral callosum, chorioretinopathy and electroencephalogram abnormality. We present a case of Aicardi syndrome with callosal hypogenesis in a 4.5-month-old baby who presented with infantile spasms. Ophthalmoscopy revealed chorioretinal lacunae. The clinical and magnetic resonance imaging features were diagnostic of Aicardi syndrome.
Agenesis of Corpus Callosum ; diagnosis ; Aicardi Syndrome ; diagnosis ; Brain ; diagnostic imaging ; pathology ; Choroid ; abnormalities ; Cornea ; physiopathology ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; methods ; Malformations of Cortical Development ; diagnosis ; Ophthalmoscopy ; methods ; Radiography ; Retina ; abnormalities ; Spasms, Infantile ; diagnosis