Details
35 weeks + 6 days gestation placenta. Family history of 3M disease (a rare primordial growth retardation syndrome).
Genetic storage diseases can manifest themselves in the fetus or even the placenta. This placenta shows prominent diffuse vacuolization within the syncytiotrophoblast cytoplasm. This finding can be seen in cases of storage disorders, including mucolipidoses. Specifically, this was a case of I-cell disease (mucolipidosis II). Differential diagnoses would include other fetal storage disorders such as mucopolysaccharidoses, sphingolipidoses, and other lipidoses.
3M syndrome can be associated with placental pathology, including increased numbers of chorionic villi with numermous syncytial knots and intervillous lacunar constriction. These features were notably absent in this case. Other findings from this placenta include meconium exposure effects.