A Case Report of I-Cell Disease (Mucolipidosis Type II) With a Novel Placental-Focused Diagnostic Approach
variants consistent with I-cell disease. Whole exome sequencing of placental tissue showed concordant pathogenic variants. To our knowledge, this is the first report of Oil Red-O staining of intracytoplasmic lipids within syncytiotrophoblast and successfully identifying variants by sequencing placental DNA in the setting of I-cell disease.
Authors
- Betty Pham (ORCID: https://orcid.org/0009-0004-8444-9100)
- Omonigho Aisagbonhi (ORCID: https://orcid.org/0000-0001-7855-8619)
- Jennifer N. Chousal (ORCID: https://orcid.org/0000-0002-8725-6142)
- Nicolas LaScala
- Laura Rose (ORCID: https://orcid.org/0000-0002-2783-4983)
- Mana M. Parast (ORCID: https://orcid.org/0000-0001-5963-2246)
- Jennifer Sanchez
- Sarah Murray (ORCID: https://orcid.org/0000-0002-3213-2927)
Institutions
- University of California San Diego (US)
- Rady Children's Hospital-San Diego (US)
Publication Details
- Journal
- Pediatric and Developmental Pathology
- Published
- 2026-04-20
- DOI
- https://doi.org/10.1177/10935266261440594
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00