Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil

Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil

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We present the first case of an early infantile form of galactosialidosis among Brazilians.This very rare and severe lysosomal storage disease has only a dozen patients clearly diagnosed worldwide.Clinical, pathological hiboost 4k smart link and biochemical features were consistent with previously published findings.We detected the disorder in a 7-month-old female baby with prenatal diagnosis of ascites.Evolution of the storage disease was monitored through routine thin-layer chromatography (TLC) for urinary oligosaccharides as part of a screening program for guerlain ideal cologne inborn errors of metabolism (IEM) in high-risk children, carried out in Rio de Janeiro.