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Objective3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.MethodsThis multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported.ResultsSixty‐seven individuals (39 previously unreported) from 59 families were included (age range = 5 days–33.4 years, median age = 9 years). A total of 41 different SERAC1 variants were identified, including 20 that have not been reported before. With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype and time course. Severe, reversible neonatal liver dysfunction and hypoglycemia were seen in >40% of all cases. Starting at a median age of 6 months, muscular hypotonia (91%) was seen, followed by progressive spasticity (82%, median onset = 15 months) and dystonia (82%, 18 months). The majority of affected individuals never learned to walk (68%). Seventy‐nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic “putaminal eye” was seen in 53%. The urinary marker 3‐methylglutaconic aciduria was present in virtually all patients (98%). Supportive treatment focused on spasticity and drooling, and was effective in the individuals treated; hearing aids or cochlear implants did not improve communication skills.InterpretationMEGDHEL syndrome is a progressive deafness–dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004–1015

The action of fungi on books, documents, maps, and works of art on paper can result in inestimable cultural losses. Plus, some of the fungi present in paper documents, surfaces and air from archives, libraries and museums are also a threat to human health. This work aims to review the literature on the most important and frequent microfungal populations found in paper-based collections all over the world, and correlate these data with human health risks. A total of 71 studies, dating between 1997 and 2018 were reviewed and organized. From 27 different countries, 207 fungal genera and 580 species were reported. Chaetomium sp. and Fusarium sp. were found to be special contaminants in the air of archives and have been associated with paper biodeterioration. The most common fungi reported (e.g. Penicillium, Aspergillus, and Alternaria species) have an impact on paper conservation but can also cause adverse human health effects. The most frequent fungal species retrieved from discoloured paper materials are discussed in greater detail. Considerations on methods of identification and quantification of fungal contamination are also presented. Finally, the authors acknowledge an urgent need for standardizing research in this area and further studies are proposed.

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