Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.

The availability of genomic sequencing for inherited diseases provides a more complete molecular basis for how an individual's genetic landscape influences clinical outcome. We describe a family where exome sequencing of a 3-year-old boy with clinical features of Cockayne syndrome (CS) confirmed the diagnosis of CS. He also had a mutation consistent with a pre-symptomatic second disease, multiple endocrine neoplasia type 1 (MEN1), each potentially affecting multiple organ systems, in addition to a poorly defined variant in fumarate hydratase (FH). Genomic sequencing may reveal coexisting pathogenic mutations and variants which complicate clinical interpretation.

Fore! A 10-year Analysis of Golf-related Facial Fractures.

BACKGROUND: Over 30 million people in the United States play golf, which, while considered a low-impact sport, involves balls and clubs moving >100 miles/h (>160.93 km/h), creating potential for a significant facial trauma. The objective of this study was to characterize the epidemiology of golf-related facial fractures in the United States. METHODS: The National Electronic Injury Surveillance System, which records injuries from approximately 100 US emergency departments, was queried for golf-related facial fractures from 2009 to 2018. Entries were tabulated for mechanism of injury and fracture location. Age, gender, seasonality of injury, type of fracture, and injury mechanism were analyzed using SPSS. Because of the different nature and management of pediatric fractures, we looked at pediatric patients as a distinct subgroup. RESULTS: There were 114 reported cases of golf-related craniofacial fractures in patients 2-91 years of age with male predominance (73.7%). This rate extrapolates to an estimated 3,850 ED presentations. Although accounting for about 10% of total players, patients under 18, commonly referred to as "junior golfers," comprised 55.3% of the cohort. Nasal fractures (25.4%), skull fractures (23.7%), unspecified facial fractures (17.5%), and mandible fractures (10.5%) predominated, which most commonly result from clubs (63.2%), balls (23.7%), and falls (11.4%). CONCLUSIONS: Facial fractures resulting from golf clubs and balls may not be as common as in other traditionally identified "high-impact sports," but they affect pediatric patients disproportionately and with a greater morbidity. Parents and children engaging the sport should be aware of the risk of head trauma, especially with any form of off-course participation.

Influenza-Induced Acute Macular Neuroretinopathy With Cerebral Involvement in a Ten-Year-Old Boy.

A 10-year-old male presented with 1-week duration of painless bilateral central vision loss after having been diagnosed with influenza A. Optical coherence tomography revealed superficial retinal nerve fiber layer infarcts, hyperreflectivity of the inner nuclear layer consistent with paracentral acute middle maculopathy (PAMM), and outer nuclear layer hyperreflectivity and disruption of the ellipsoid zone suggesting acute macular neuroretinopathy (AMN). Brain MRI revealed enhancement of the right basal ganglia consistent with focal encephalitis. He was diagnosed with presumed influenza-induced leukocytoclastic vasculitis (LCV) and treated with intravenous steroids. Influenza-induced LCV is a rare phenomenon and can present with AMN, PAMM, and encephalitis. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:293-297.].