Practical Genetics for the Neuroradiologist: Adding Value in Neurogenetic Disease.

Genetic discoveries have transformed our understanding of many neurologic diseases. Identification of specific causal pathogenic variants has improved understanding of pathophysiology and enabled replacement of many confusing eponyms and acronyms with more meaningful and clinically relevant genetics-based terminology. In this era of rapid scientific advancement, multidisciplinary collaboration among pediatricians, neurologists, geneticists, radiologists, and other members of the health care team is increasingly important in the care of patients with genetic neurologic diseases. Radiologists familiar with neurogenetic disease add value by (1) recognizing constellations of characteristic imaging findings that are associated with a genetic disease before one is clinically suspected; (2) predicting the most likely genotypes for a given imaging phenotype in clinically suspected genetic disease; and (3) providing detailed and accurate descriptions of the imaging phenotype in challenging cases with unknown or uncertain genotypes. This review aims to increase awareness and understanding of pathogenic variants relating to neurologic disease by (1) briefly reviewing foundational knowledge of chromosomes, inheritance patterns, and mutagenesis; (2) providing concrete examples of and detailed information about specific neurologic diseases resulting from pathogenic variants; and (3) highlighting clinical and imaging features that are of greatest relevance for the radiologist.

A Retrospective Evaluation of Airway Anatomy in Young Children and Implications for One-Lung Ventilation.

OBJECTIVE: One-lung ventilation (OLV) in children remains a niche practice with few studies to guide best practices. The objective of this study was to describe lower airway anatomy relevant to establishment of OLV in young children. DESIGN: Retrospective, observational study using pre-existing studies in the electronic health record. SETTING: Single institution, academic medical center, tertiary-care hospital. PARTICIPANTS: Pediatric patients <8 years old. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Chest computed tomographic scans of 111 children 4 days to 8 years of age were reviewed. Measurements were taken from the thyroid isthmus to the carina, carina to first lobar branch on the left and right, diameter of the trachea at the carina, and diameter of the left and right mainstem bronchi. Dimensions were correlated with the outer diameter of endotracheal tubes and bronchial blockers. The left mainstem bronchus is consistently smaller than the right. Lung isolation using a mainstem technique on the left should use an endotracheal tube a half size smaller than would be used for tracheal intubation. The length from the carina to the first lobar branch on the left is consistently 3 times longer than on the right. Further, age-delineated bronchial diameters suggest that the clinician should transition from a 5F to a 7F Arndt bronchial blocker at 3-to-4 years of age. CONCLUSION: A more detailed and accurate understanding of pediatric lower airway anatomy may assist the clinician in successfully performing OLV in young children.