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A previously healthy 8-year-old girl presented with flulike symptoms, developed toxic shock-like syndrome, and died within 48 hours. At autopsy she was found to have purulent meningitis. The group A β-hemolytic streptococcus isolated from her CSF was a member of clone ET 2. This strain produced a variant form of streptococcal pyrogenic exotoxin A (SPEA2) that has recently been associated with widespread toxic shock-like syndrome. [ABSTRACT FROM PUBLISHER]

Variants in the mitochondrial alanyl-tRNA synthetase 2 gene AARS2 (OMIM 612035) are associated with infantile mitochondrial cardiomyopathy or later-onset leukoencephalopathy with premature ovarian insufficiency. Here, we report two newborn siblings who died soon after birth with primary pulmonary hypoplasia without evidence of cardiomyopathy. Whole-exome sequencing detected the same compound heterozygous AARS2 variants in both siblings (c.1774C>T, p.Arg592Trp and c.647dup, p.Cys218Leufs*6) that have previously been associated with infantile mitochondrial cardiomyopathy. Segregation analysis in the family confirmed carrier status of the parents and an unaffected sibling. To our knowledge, this is the first report of primary pulmonary hypoplasia in the absence of cardiomyopathy associated with recessive AARS2 variants and further defines the phenotypic spectrum associated with this gene., (© 2019 Kiraly-Borri et al.; Published by Cold Spring Harbor Laboratory Press.)

Inflammatory bowel disease (IBD) is an increasingly important cause of gastrointestinal pathology in children. Approximately 25% of IBDs present before the patient is 20 years of age. Accurate diagnosis and differentiation between Crohn's disease (CD) and ulcerative colitis (UC) is important in planning treatment strategies, particularly in children. Endoscopy, which allows direct visualization of gastrointestinal mucosa and biopsy of multiple sites, is an integral part of this diagnostic process. Although no endoscopic lesion is pathognomonic of IBD, certain features are highly suggestive of either CD or UC. In this article, we review and attempt to correlate endoscopic and histologic findings in IBD that have particular emphasis on the pediatric population.

Background: Studies of pediatric inflammatory bowel disease (IBD) have varied in the criteria used to classify patients as having Crohn disease (CD), ulcerative colitis (UC), or indeterminate colitis (IC). Patients undergoing an initial evaluation for IBD will often undergo a series of diagnostic tests, including barium upper gastrointestinal series with small bowel follow-through, abdominal CT, upper endoscopy, and colonoscopy with biopsies. Other tests performed less frequently include magnetic resonance imaging scans, serological testing, and capsule endoscopy. The large amount of clinical information obtained may make a physician uncertain as to whether to label a patient as having CD or UC. Nevertheless, to facilitate the conduct of epidemiological studies in children, to allow the entry of children into clinical trials, and to allow physicians to more clearly discuss diagnosis with their patients, it is important that clinicians be able to differentiate between CD and UC., Methods: A consensus conference regarding the diagnosis and classification of pediatric IBD was organized by the Crohn's and Colitis Foundation of America. The meeting included 10 pediatric gastroenterologists and 4 pediatric pathologists. The primary aim was to determine the utility of endoscopy and histology in establishing the diagnosis of CD and UC. Each member of the group was assigned a topic for review. Topics evaluated included differentiating inflammatory bowel disease from acute self-limited colitis, endoscopic and histological features that allow differentiation between CD and UC, upper endoscopic features seen in both CD and UC, ileal inflammation and "backwash ileitis" in UC, patchiness and rectal sparing in pediatric IBD, periappendiceal inflammation in CD and UC, and definitions of IC., Results: Patients with UC may have histological features such as microscopic inflammation of the ileum, histological gastritis, periappendiceal inflammation, patchiness, and relative rectal sparing at the time of diagnosis. These findings should not prompt the clinician to change the diagnosis from UC to CD. Other endoscopic findings, such as macroscopic cobblestoning, segmental colitis, ileal stenosis and ulceration, perianal disease, and multiple granulomas in the small bowel or colon more strongly suggest a diagnosis of CD. An algorithm is provided to enable the clinician to differentiate more reliably between these 2 entities., Conclusions: The recommendations and algorithm presented here aim to assist the clinician in differentiating childhood UC from CD. We hope the recommendations in this report will reduce variability among practitioners in how they use the terms "ulcerative colitis," "Crohn disease," and "indeterminate colitis." The authors hope that progress being made in genetic, serological, and imaging studies leads to more reliable phenotyping.

A case of sudden death is reported in a 13-year-old boy due to an acute myocardial infarction and arrhythmias following exertion. On autopsy, he was found to have an anomalous origin of the left coronary artery, an acute angle of takeoff of the left coronary artery, and diffuse hypoplasia of both the left and right coronary arteries. Both arteries had markedly small lumens throughout their course. This report provides the first description of this combination of congenital coronary artery abnormalities resulting in sudden death.