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Background: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving ANKRD11 cause KBG syndrome, but no genotype-phenotype correlation has been reported., Methods: 67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire. Manifestations present in >50% of the patients and a 'phenotypical score' were used to perform a genotype-phenotype correlation in 340 patients from our cohort and the literature., Results: Neurodevelopmental delay, macrodontia, triangular face, characteristic ears, nose and eyebrows were the most prevalentf (eatures. 82.8% of the patients had at least one of seven main comorbidities: hearing loss and/or otitis media, visual problems, cryptorchidism, cardiopathy, feeding difficulties and/or seizures. Associations found included a higher phenotypical score in patients with sequence variants compared with CNVs and a higher frequency of triangular face (71.1% vs 42.5% in CNVs). Short stature was more frequent in patients with exon 9 variants (62.5% inside vs 27.8% outside exon 9), and the prevalence of intellectual disability/attention deficit hyperactivity disorder/autism spectrum disorder was lower in patients with the c.1903_1907del variant (70.4% vs 89.4% other variants). Presence of macrodontia and comorbidities were associated with larger deletion sizes and hand anomalies with smaller deletions., Conclusion: We present a detailed phenotypical description of KBG syndrome in the largest series reported to date of 67 patients, provide evidence of a genotype-phenotype correlation between some KBG features and specific ANKRD11 variants in 340 patients, and propose updated clinical diagnostic criteria based on our findings., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: The study aimed to describe the cases of neurological disease related to the outbreak of enterovirus (EV) in three regions in Northern Spain during 2016., Materials and Methods: Multicenter retrospective observational study. Clinical, radiological, and microbiological data were analyzed from patients younger than 15 years with confirmed EV-associated neurological disease admitted to 10 hospitals of Asturias, Cantabria, and Castile and Leon between January 1 and December 31, 2016., Results: Fifty-five patients were included. Median age was 24 months (interquartile range = 18.5 months). Fifteen patients were classified as aseptic meningitis (27.3%). In total, 37 cases presented brainstem encephalitis (67.3%), 25 of them due to EV-A71 with excellent prognosis (84.6% asymptomatic 2 months following the onset). Three cases of acute flaccid myelitis (5.5%) by EV-D68 were reported and presented persistent paresis 2 months following the onset. Microbiological diagnosis by reverse transcriptase polymerase chain reaction was performed in all cases, finding EV in cerebrospinal fluid in meningitis, but not in brainstem encephalitis and acute flaccid myelitis, where EV was found in respiratory or rectal samples. Step therapy was administrated with intravenous immunoglobulin (IVIG; 32.7%), methylprednisolone (10%), and plasmapheresis (3.6%). Four patients received fluoxetine (7.3%). Twenty patients needed to be admitted to pediatric intensive care unit (36.4%)., Conclusion: Clinical, microbiological, and radiological diagnosis is essential in outbreaks of EV neurological disease, taking into account that it can be difficult to identify EV-A71 and EV-D68 in CSF, requiring throat or rectal samples. There is not specific treatment to these conditions and the efficacy and understanding of the mechanism of action of immune-modulatory treatment (IVIG, corticosteroids, and plasmapheresis) is limited., Competing Interests: None declared., (Thieme. All rights reserved.)

Introduction: Benign biliary diseases are traditionally treated using plastic stents. However, fully covered self-expanding metal stents are currently gaining acceptance for the treatment of these pathologies., Objective: To assess the effectiveness and complications associated with the placement of temporary endoscopic fully covered self-expanding metal stents for the treatment of benign biliary diseases., Materials and Methods: This was a retrospective and observational study using a prospective database from a tertiary care center from March 2012 to May 2016. Some patients that had a fully covered metal stent due to a benign biliary disease were also included. The indications, resolution, technical success rates and adverse events were documented., Results: 31 patients were included with a total of 34 stents inserted. The indications were as follows: 8 (25%) post cholecystectomy biliary stenoses, 11 (31%) large or multiple choledocholithiasis, 3 (8.3%) biliary fistulas, 2 (6%) post-liver transplant stenoses, 2 (8.3%) papillary stenoses, 2 (6%) perforations and 2 (6%) bleeds. The global resolution success rate of the stents for all pathologies was 88%, this included 87.5% (7/8) in post cholecystectomy stenoses, 73% (8/11) in large choledocholithiasis and 100% for the remaining indications. Thirty-three of 34 stents were removed after an average of 133 days (ranging from 10 to 180 days). No complications were registered., Conclusion: Fully covered self-expanding metal stents are an effective and reliable alternative for the resolution of benign biliary diseases.