ArticleFrontiers in pediatrics2026
Case Report: From suspected congenital rubella to a lysosomal storage disorder-diagnostic challenges in a neonate with findings strongly suggestive of Gaucher disease.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Neonatal lysosomal storage disorders may overlap clinically with congenital infection. We report a term infant initially evaluated for congenital rubella because of petechiae, thrombocytopenia, hepatosplenomegaly, cholestasis, bilateral non-pass results on newborn hearing screening, cardiac abnormalities, and ocular findings. Case presentation: A term male neonate presented with petechiae, gastrointestinal bleeding, thrombocytopenia, hepatosplenomegaly, cholestasis, liver dysfunction, bilateral non-pass newborn hearing-screening results, cardiac abnormalities, and ocular findings after repeated maternal rubella immunoglobulin M and G positivity during pregnancy. Infant rubella immunoglobulin G was positive and immunoglobulin M was negative, but rubella-specific reverse-transcription polymerase chain reaction and adequate longitudinal serology were not performed. Dried-blood-spot (DBS) glucocerebrosidase activity was 0.96 μmol/L/h (reference interval, 1.19-22.23), only modestly reduced, whereas glucosylsphingosine (lyso-Gb1) was 963.66 ng/mL (reference value, <17.41), more than 55-fold the upper limit. Neither result was confirmed in an independently collected specimen, and no leukocyte or fibroblast enzyme assay was performed. Long-range polymerase chain reaction and sequencing reported Conclusion: This case illustrates diagnostic uncertainty in neonates with overlapping infectious, haematological, inflammatory, and lysosomal features. Markedly elevated lyso-Gb1 provided the strongest Gaucher-directed biochemical evidence, whereas the modestly reduced single dried-blood-spot enzyme result and unresolved GBA1 segregation precluded definitive confirmation. Relevant Gaucher-like and hepatosplenic lysosomal disorders were not systematically excluded. The findings were consistent with probable neonatal-onset Gaucher disease; congenital rubella remained unconfirmed and could not be fully excluded, and the disease subtype, allelic configuration, inheritance mechanism, and recurrence risk remained undetermined.
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