Case report: The altered rate of monocytic cell death in a patient of Muckle-Wells syndrome with atypical clinical course.

Muckle-Wells syndrome (MWS) is an autosomal dominant autoinflammatory disease recognized as the intermediate phenotype of cryopyrin-associated periodic syndrome (CAPS) caused by gene mutation. It often takes a long time before the diagnosis is made because the clinical presentation of MWS is variable. We report a pediatric case who had had persistently elevated serum C-reactive protein (CRP) level since infancy and was diagnosed with MWS by the development of sensorineural hearing loss in school age.

The changes of the epidemiology and clinical characteristics of rotavirus gastroenteritis-associated convulsion after the introduction of rotavirus vaccine.

Rotavirus (RV) vaccine contributed to the reduction of the hospitalization for gastroenteritis (GE)-associated convulsion whereas there were few studies investigating the vaccination rate and the reduction of the disease simultaneously. The aim of this study is to investigate the alterations of the epidemiology and clinical characteristics of RVGE-associated convulsion after the introduction of RV vaccines and evaluate the reduction of the disease in the context of the vaccination rate. This retrospective study included hospitalized patients with GE and GE-associated convulsion from 2009 to 2015.

Infliximab Therapy and the Central Nervous Demyelination in Patients with Kawasaki Disease.

We performed brain magnetic resonance imaging in 14 patients with Kawasaki disease who were treated with infliximab (IFX) at 56 months of age (32-62 months of age) and 23 months (5-35 months) after IFX therapy. Magnetic resonance imaging showed no finding of the central nervous demyelination. IFX therapy is not related to central nervous demyelination in patients with Kawasaki disease.

Disease and injury trends among evacuees in a shelter located at the epicenter of the 2016 Kumamoto earthquakes, Japan.

Two huge earthquakes struck Kumamoto, Japan, in April 2016, forcing residents to evacuate. Few studies have reported early-phase disease and injury trends among evacuees following major inland earthquakes. We evaluated the trends among evacuees who visited a medical clinic in a shelter located at the epicenter of the 2016 Kumamoto earthquakes.

[Tuberous sclerosis with infantile spasm and subependymal giant cell astrocytoma].

Tuberous sclerosis complex (TSC) is a genetic disease affecting many organ systems and showing different symptoms in each age group. We encountered a TSC patient with intractable epilepsy who had brain tumors suspected to be subependymal giant cell astrocytoma (SEGA). We used adrenocorticotropic hormone and ordinal antiepileptic drugs at first, but they showed limited effectiveness.

Serial MRI changes in a patient with infantile Alexander disease and prolonged survival.

Alexander disease is a major entity of leukodystrophy; magnetic resonance imaging (MRI) studies of the brain typically show extensive changes in the cerebral white matter with frontal predominance. Heterozygous missense mutations of GFAP are thought to be sufficient for the molecular diagnosis, which has widened the Alexander disease entity beyond the classical one. We report the patient, a 16-year-old Japanese boy, with infantile-onset Alexander disease, showing striking MRI findings; extreme white matter loss of cerebrum through cerebellum, severe atrophy of basal ganglia, cerebellum, brain stem, and cervical spinal cord.