Congenital high airway obstruction syndrome without tracheoesophageal fistula and with in utero decrease in relative lung size.

Congenital high airway obstruction syndrome (CHAOS) is diagnosed by characteristic features on US and MRI including fetal upper airway occlusion, lung hyperinflation with an inverted diaphragm, and sometimes massive ascites and hydrops. We describe a case of CHAOS in which improvement in the fetal condition was observed on three sequential fetal MRIs. Such an improvement was thought to represent decrease in intrathoracic pressure caused by a spontaneous perforation such as a tracheoesophageal fistula. However, a fistula was not observed in the present case. Therefore, we suggest that imaging improvements in patients with CHAOS do not always correspond to the presence of a fistula and other factors might contribute to decreasing fetal intrathoracic pressure.

Cerebellar loss and brain-stem atrophy associated with neonatal alloimmune thrombocytopenia in a discordant twin.

Neonatal alloimmune thrombocytopenia (NAIT) is due to an immune-mediated maternal-fetal platelet antigen incompatibility. Central nervous system abnormalities have been reported in infants with NAIT and include intracranial hemorrhage, ventriculomegaly, porencephalic cysts, neuronal migrational disorders, and, rarely, cerebellar lesions. We present the clinical and neuropathological findings from a case of a 3-day-old diamniotic/dichorionic female twin with known bilateral ventriculomegaly born prematurely at 33-1/7 weeks in gestational age. The pregnancy was further complicated by discordant intrauterine growth, intraventricular hemorrhage in the co-twin, and NAIT. At birth, the infant was noted to have diffuse body ecchymoses and petechiae and arthrogryposis. She subsequently developed multisystem organ failure and disseminated intravascular coagulopathy and died on the 3rd day of life. Neuropathological findings at autopsy included a posterior fossa cyst with no gross anatomic evidence of a cerebellum, atrophic pons and medulla with prominent pyramidal tracts and absent olivary nuclei, thinned corpus callosum, and symmetrical dilation of bilateral lateral ventricles. Microscopic examination confirmed the gross findings and revealed no histological evidence of cerebellar tissue, absence of superior and inferior cerebellar peduncles, and acute and chronic germinal matrix hemorrhages. Immunohistochemical studies revealed a focus of reactive gliosis at the base of the posterior fossa cyst with no evidence of cerebellar Purkinje or granule cells. To our knowledge, this is the 1st report with well-characterized neuropathological examination detailing complete cerebellar loss and brain-stem atrophy in a neonate with NAIT.

Microphthalmia and cerebral atrophy induced in mouse embryos by infection with murine cytomegalovirus in midgestation.

Microphthalmia and cerebral atrophies were induced in mouse embryos after injection of murine cytomegalovirus (MCMV) into the conceptus at midgestation. The concepti of ICR mice on day 8.5 of gestation were injected with MCMV through the uterine wall, then pregnancies were allowed to continue. On day 15.5 of gestation, microphthalmia was observed in 19.2% of the MCMV-injected embryos (1 x 10(4) plaque-forming units). As the survival rate decreased when pregnancies were allowed to continue further, incidence of microphthalmia decreased, whereas cerebral atrophies, determined by examining the histological sections, were observed in 17.6% of the surviving mouse fetuses on day 18.5 of gestation. Microphthalmia was confirmed by microscopically measuring the eyes on the serial coronal sections. There were two types of microphthalmia: one with marked hypoplastic eye with periglobular mesenchymal proliferation, the other with small eye and lens without the mesenchymal proliferation. Immunohistochemical analysis was performed using antibodies specific to the nuclear antigen of MCMV. Viral antigen-positive cells were widely distributed in the mesenchymes around the oral and nasal cavities and in the mesenchymes around the brain, especially in the endothelial cells of the vessels and the perivascular mesodermal cells. In the eyes, viral antigen-positive cells were observed in mononuclear blood cells in the cavities of the vitreous bodies. These results suggest that the primary target of congenital cytomegalovirus infection may be the mesenchymal cells; then the infection extends to the eyes and brain. In addition, the mesenchymal infection may also disrupt their organogenesis, resulting in microphthalmia and cerebral atrophy. This experimental system may provide a model similar to congenital cytomegalovirus infection in humans.