Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up

Galactosialidosis (GS) is an autosomal recessive condition caused by combin ed deficiency of the lysosomal enzymes beta-galactosidase and a-neuraminida se. The combined deficiency has been found to result from a defect in prote ctive protein/cathepsin A (PPCA), an intralysosomal protein which protects these enzymes from premature proteolytic processing. The most severe form o f GS, the early-infantile form, results in early onset of edema, ascites, v isceromegaly, and skeletal dysplasia, We report a case of early-infantile G S in a male infant who presented with nonimmune fetal hydrops (NIH), "coars e" facial appearance, massive fluid-filled inguinal hernias, multiple telan giectasia, and diffuse hypopigmentation; he subsequently developed viscerom egaly. The diagnosis of GS was confirmed biochemically and the defect in PP CA characterized at the protein level, Examination of fetal peripheral bloo d smears sampled at 30 weeks gestation demonstrated vacuolation of lymphocy tes, suggesting blood film examination may be a useful screening tool for c ases of NIH where a metabolic disorder is suspected, Skeletal radiography a t birth demonstrated punctate epiphyses of the femora, calcanei, and sacrum , We present a discussion of and differential diagnosis for this radiograph ic finding. To the best of our knowledge, this is the first case of early-i nfantile QS presenting with stippled epiphyses, Am, J, Med. Genet. 85:38-47 , 1999, (C) 1999 Wiley-Liss, Inc.