We report three individuals with a cranioskeletal malformation syndrome that we define as acrofacial dysostosis, Cincinnati type. Each individual has a heterozygous mutation in POLR1A, which encodes a core component of RNA polymerase 1. All three individuals exhibit varying degrees of mandibulofacial dysostosis, and two additionally have limb anomalies. Consistent with this observation, we discovered that polr1a mutant zebrafish exhibited cranioskeletal anomalies mimicking the human phenotype. polr1a loss of function led to perturbed ribosome biogenesis and p53-dependent cell death, resulting in a deficiency of neural-crest-derived skeletal precursor cells and consequently craniofacial anomalies. Our findings expand the genotypic and phenotypic heterogeneity of congenital acrofacial disorders caused by disruption of ribosome biogenesis.

BACKGROUND AND PURPOSE:Pilomyxoid astrocytoma (PMA) is a recently described variant of pilocytic astrocytoma (PA) with unique clinical and histopathologic characteristics. Because the histopathology of PMA is distinct from that of PA, we hypothesized that PMAs would display distinctive imaging characteristics. We retrospectively reviewed the imaging findings in a large number of patients with PMA to identify these characteristics.

Neuroradiologists play a key role in brain tumor diagnosis and management. Staying current with the latest classification systems and diagnostic markers is important to provide optimal patient care. Publication of the 2016 World Health Organization Classification of Tumors of the Central Nervous System introduced a paradigm shift in the diagnosis of CNS neoplasms. For the first time, both histologic features and genetic alterations were incorporated into the diagnostic framework, classifying and grading brain tumors. The newly published 2021 World Health Organization Classification of Tumors of the Central Nervous System, May 2021, 5th edition, has added even more molecular features and updated pathologic diagnoses. We present, summarize, and illustrate the most salient aspects of the new 5th edition. We have selected the key "must know" topics for practicing neuroradiologists.ABBREVIATIONS: DGONC ¼ diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters; EPN ¼ ependymoma; ETMR ¼ embryonal tumor with multilayered rosettes; FISH ¼ fluorescence in situ hybridization; NEC ¼ not elsewhere classified; NOS = not otherwise specified; MB ¼ medulloblastoma; MGNT ¼ myxoid glioneuronal tumor; MVNT ¼ multinodular and vacuolating neuronal tumor; PF ¼ posterior fossa; SC ¼ spinal cord; ST ¼ supratentorial; WHO ¼ World Health Organization; IDH ¼ isocitrate dehydrogenase

Posterior reversible encephalopathy syndrome (PRES) is a clinical syndrome characterized by vision changes, altered mental status, and seizures, typically caused by an acute rise in blood pressure. PRES has been reported after hematopoietic stem cell transplantation (HSCT) in association with hypertension from calcineurin inhibitors and corticosteroids. The imaging evaluation of PRES after HSCT in children and young adults has not been well described. We performed a retrospective review of all HSCT recipients presenting to the intensive care unit with new neurologic symptoms. A neuroradiologist reviewed all radiologic images and compared computed tomography (CT) versus magnetic resonance imaging (MRI) findings indicative of diagnosis of PRES. Alternative imaging diagnoses explaining the patients’ symptoms were also recorded. Fifty-four transplant recipients were admitted to the intensive care unit with new neurologic symptoms. Thirty-nine percent (21 of 54) of subjects had imaging findings consistent with PRES, 24% (13 of 54) had imaging findings consistent with an alternative diagnosis, 9% (5 of 54) had a nonspecific finding, and 28% (15 of 54) had no acute imaging findings. PRES was diagnosed at a median of 49 days (interquartile range, 29 to 94) after HSCT. The presenting symptom for the majority of patients with PRES was seizures (86%), whereas 14% presented with acute encephalopathy. Ninety-five percent of subjects diagnosed with PRES (20 of 21) underwent a head CT as their initial imaging evaluation. CT scan was diagnostic of PRES in 40% (8 of 20). Subsequently, 16 patients underwent brain MRI with 12 additional patients being diagnosed with PRES on MRI. The median time elapsed between negative CT and a positive MRI examination was 20 hours (range, 3.6 hours to 9 days). CT serves as an excellent screening test for acute pathology, such as intracranial hemorrhage; however, it lacks sensitivity for the diagnosis of PRES. Patients with clinical symptoms suggestive of PRES who have a negative CT should be treated appropriately for PRES and should undergo MRI of the brain as soon as clinically stable to confirm the diagnosis.