We detected a germ-line mutation of the p53 gene in a patient with a malignant ependymoma of the posterior fossa. This mutation, which was found at codon 242, resulted in an amino acid substitution in a highly conserved site of exon 7 of the p53 gene; the same mutation was found in both the germ-line and the tumor tissue. This is the most common region of previously described somatic p53 mutations in tumor specimens and of the germ-line p53 mutations in patients with the Li-Fraumeni cancer syndrome. Evaluation of the patient's family revealed several direct maternal and paternal relatives who had died at a young age from different types of cancer. The association of a germ-line p53 mutation with an intracranial malignancy and a strong family history of cancer suggests that p53 gene mutations predispose a person to malignancy and, like retinoblastoma mutations, may be inherited.

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A case of progressive brainstem syndrome secondary to vertebral artery (VA) dolichoectasia is reported. The patient presented with partial bilateral abduction paralysis, which progressed to quadriparesis, ataxia, and areflexia. The initial diagnosis was stroke, but because of the patient's deterioration, a diagnosis of Miller-Fisher syndrome was made. Neuroimages obtained at that time revealed an ectatic left VA with minimal cervicomedullary compression. The patient continued to deteriorate despite medical management. Follow-up imaging demonstrated worsened cervicomedullary compression. An emergency posterior fossa neurovascular decompression was performed using a Gore-Tex sling and resulted in mild neurological improvement. This case emphasizes that early recognition and surgical intervention to prevent progressive neurological sequelae are crucial in symptomatic VA dolichoectasia.

Background: The literature on brain imaging in premature infants, is mostly made up of studies that evaluate neonates, yet the most dynamic time of brain development happens from birth to one year of age. This study was designed to obtain quantitative brain measures from Magnetic Resonance Imaging (MRI) scans of infants born prematurely at 12 months of age. Methods: The subject group was designed to capture a wide range of gestational age (GA) from premature to full term infants. An age-specific atlas generated quantitative brain measures. A regression model was used to predict effects of gestational age, sex, on brain measures. Results: There was a primary effect of sex on: 1) intracranial volume (ICV), males > females; 2) proportional cerebral cortical gray matter (females > males) and 3) cerebral white matter (males> females). GA predicted cerebral volume and cerebral spinal fluid (CSF). GA also predicted cortical gray matter in a sex specific manner with GA having a significant effect on cortical volume in the males, but not in females. Conclusions and Relevance: Sex differences in brain structure are large early in life. GA had sex specific effects highlighting the importance evaluating sex effects in neurodevelopmental outcomes of premature infants.