Early features in neuroimaging of two siblings with molybdenum cofactor deficiency.

We report the features of neuroimaging within 24 hours after birth in 2 siblings with molybdenum cofactor deficiency. The first sibling was delivered by emergency cesarean section because of fetal distress and showed pedaling and crawling seizures soon after birth. Brain ultrasound revealed subcortical multicystic lesions in the frontal white matter, and brain MRI at 4 hours after birth showed restricted diffusion in the entire cortex, except for the area adjacent to the subcortical cysts. The second sibling was delivered by elective cesarean section. Cystic lesions were seen in the frontal white matter on ultrasound, and brain MRI showed low signal intensity on T1-weighted image and high signal intensity on T2-weighted image in bifrontal white matter within 24 hours after birth, at which time the infant sucked sluggishly. Clonic spasm appeared at 29 hours after birth. The corpus callosum could not be seen clearly on ultrasound or MRI in both infants. Cortical atrophy and white matter cystic lesions spread to the entire hemisphere and resulted in severe brain atrophy within ~1 month in both infants. Subcortical multicystic lesions on ultrasound and a cortex with nonuniform, widespread, restricted diffusion on diffusion-weighted images are early features of neuroimaging in patients with molybdenum cofactor deficiency type A.

Chemokine expression in human astrocytes in response to shiga toxin 2.

Infection with Shiga toxin- (Stx-) producing Escherichia coli can lead to hemolytic uremic syndrome (HUS). Approximately, 30% of patients with HUS suffer from complications in the central nervous system (CNS), which is an important determinant of mortality in such patients. Autopsy shows mostly edema and hypoxic-ischemic changes in the CNS, often with microhemorrhages. It has been suggested that Stx-induced damage to human brain endothelial cells, which are essential constituents of the blood-brain barrier, plays a crucial role in the development of the CNS complications. However, it is unclear whether Stx affects brain neuroglial cells. In the present study, we investigated the direct involvement of Stx in the inflammatory responses of human astrocytes (HASTs) treated with Stx. Immunohistochemistry and real-time PCR revealed that the expression of globotriaosylceramide (Gb3), the receptor for Stx2, and Gb3 synthase (GalT6) in HASTs was increased by interleukin-1ß (IL-1ß). Expression of both interleukin-8 (IL-8) and monocyte chemoattractant protein-1 (MCP-1) mRNA in HASTs was significantly upregulated by Stx2. These results suggest that Stx2 induces inflammatory responses, particularly through expression of chemokines, in HASTs expressing Gb3 and may, thus, affect brain glial cells, playing a key role in the pathogenesis of CNS manifestations associated with HUS.

Acute encephalopathy and rhabdomyolysis following rotavirus gastroenteritis.

Rotavirus is a common cause of severe gastroenteritis in children, and other unusual extraintestinal manifestations have also been attributed to the virus. We report a case of acute encephalopathy and rhabdomyolysis following rotavirus gastroenteritis in a 6-month-old infant.