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

Blog Article

We present the first case of an early infantile form of galactosialidosis among Wood Lanterns Brazilians.This very rare and severe lysosomal storage disease has only a dozen patients clearly diagnosed worldwide.Clinical, pathological 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 Me Swimsuit thin-layer chromatography (TLC) for urinary oligosaccharides as part of a screening program for inborn errors of metabolism (IEM) in high-risk children, carried out in Rio de Janeiro.