A Case Report of I-Cell Disease (Mucolipidosis Type II) With a Novel Placental-Focused Diagnostic Approach.
Nicolas LaScala, Laura Rose, Jennifer Sanchez et al.
✦ AI-curated · Sources linked
Case in brief
A neonate was admitted to the NICU with respiratory distress and initial concern for infection. Placental examination showed vacuolization of syncytiotrophoblasts, with intracytoplasmic lipid vacuoles highlighted by Oil Red-O staining. Ultra-rapid whole-genome sequencing of a buccal swab identified compound heterozygous GNPTAB variants consistent with I-cell disease (mucolipidosis type II); placental whole-exome sequencing found concordant pathogenic variants. The placental findings and genetic results established the diagnosis.
What made this case unusual
Oil Red-O highlighted lipid vacuoles in placental syncytiotrophoblasts, and sequencing placental tissue identified variants concordant with those found in the neonate.
Diagnostic / clinical pearl
In a neonate with unexplained respiratory distress, placental syncytiotrophoblast vacuolization and Oil Red-O-positive lipid vacuoles may prompt evaluation for I-cell disease; placental DNA sequencing can provide concordant genetic findings.