A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neuropathy and central dysmyelination has been recognized recently in association with SOX10 mutations. We report an infant boy with lethal congenital…
Congenital idiopathic talipes equinovarus is a relatively common disorder of uncertain etiology with a wide variance of clinical severity. Many theories have been postulated over the years without universal agreement in regard to the cause of this…
In previous studies, we have shown overexpression and ectopic subcellular distribution of gamma-tubulin and beta III-tubulin in human glioblastomas and glioblastoma cell lines (Katsetos et al., 2006,] Neuropathol Exp Neurol 65:455-467; Katsetos et…
A 3-year-old girl with rhizomelic chondrodysplasia punctata (RCDP) had severe micrencephaly but a normal gyral pattern, neuronal density, and cortical cytoarchitecture. The white matter was diffusely decreased in mass but normally myelinated. There…
The karyotypes of 47 pediatric brain tumors (14 cerebellar pilocytic astrocytomas, six cerebral pilocytic astrocytomas, seven anaplastic astrocytomas and glioblastomas, nine medulloblastomas [PNETs], one cerebral neuroblastoma, four ependymomas, and…
A 67-year-old woman had fever, myalgias, progressive weakness, and respiratory insufficiency. In 9 days, flaccid areflexic quadriparesis and bulbar palsy developed. She died 26 days after the onset of her illness. Serum and cerebrospinal fluid…
Three children, aged 4, 5, and 9 years, had an insidious onset of ataxia. Magnetic resonance imaging (MRI) showed hydrocephalus and countless foci of high T2 signal coating the cerebellum, basilar cisterns, brainstem, and fourth ventricle. Similar…
A 15-year-old boy with acute lymphoblastic leukemia (ALL) developed disseminated fusarium infection with meningoencephalitis following a contaminated skin wound. With antifungal therapy, the cutaneous lesions cleared but central nervous system (CNS)…
We describe our experience with prenatal diagnosis of tetralogy of Fallot with supracardiac totally anomalous pulmonary venous connection. We also suspected obstruction In the ascending vertical vein as it crossed the right bronchus and coursed…
A patient with neonatal glycine encephalopathy who had severe neurologic retardation, spasticity, and seizures died at 17 years of age. Glycine concentration was markedly elevated in brain tissue, especially in the cerebellum. Neuropathologic study…
