Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.
American Journal of Medical Genetics
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Galactosialidosis (GS) is an autosomal recessive condition caused by combined deficiency of the lysosomal enzymes beta-galactosidase and alpha-neuraminidase. The combined deficiency has been found to result from a defect in protective protein/cathepsin A (PPCA), an intralysosomal protein which protects these enzymes from premature proteolytic processing. The most severe form of GS, the early-infantile form, results in early onset of edema, ascites, visceromegaly, and skeletal dysplasia. We report a case of early-infantile GS in a male infant who presented with nonimmune fetal hydrops (NIH), "coarse" facial appearance, massive fluid-filled inguinal hernias, multiple telangiectasia, and diffuse hypopigmentation; he subsequently developed visceromegaly. The diagnosis of GS was confirmed biochemically and the defect in PPCA characterized at the protein level. Examination of fetal peripheral blood smears sampled at 30 weeks gestation demonstrated vacuolation of lymphocytes, suggesting blood film examination may be a useful screening tool for cases of NIH where a metabolic disorder is suspected. Skeletal radiography at birth demonstrated punctate epiphyses of the femora, calcanei, and sacrum. We present a discussion of and differential diagnosis for this radiographic finding. To the best of our knowledge, this is the first case of early-infantile GS presenting with stippled epiphyses.
Blotting, Western, Bone and Bones/abnormalities, Bone and Bones/radiography, Eye Abnormalities/pathology, Fibroblasts/enzymology, Humans, Infant, Newborn, Lysosomal Storage Diseases/diagnosis, Lysosomal Storage Diseases/enzymology, Male, Neuraminidase/metabolism, Prenatal Diagnosis, beta-Galactosidase/metabolism
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