作者: Roberto Giugliani , Anneliese Lopes Barth , Melissa Rossi Calvão Dumas , José Francisco da Silva Franco , Liane de Rosso Giuliani
DOI: 10.1186/S13023-021-01870-W
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摘要: Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history clinical spectrum. Methods We conducted a case series report which included retrospective from all MPS patients diagnosed through "MPS Brazil Network" who were to be alive in 2020 (N = 13). Clinical obtained review medical records descriptive statistics variables summarized using counts percentages total population. Results The majority Northeast region Brazil. Among signs symptoms that raised suspicion MPS, coarse face was most frequent; 58% had non-immune hydrops fetalis. All subjects presented short neck trunk. typical phenotypical disorders. They neurodevelopmental delay cognitive impairment. About half this cohort knees deformities. Dysostosis multiplex identified almost cardiomyopathy less frequent than observed other types MPSs. mean age at diagnosis 5 years, ranging 1 14 years. Almost (12/13) homozygous for c.526C>T (p.Leu176Phe) mutation. A novel variant GUSB gene found, c.875T>C (p.Leu292Pro), compound heterozygous variant. Conclusions This biggest collection Latin America. overall picture very similar disorders, including spectrum severity delayed diagnosis.