Fetal/Perinatal Lethal Gaucher Disease: A Case Series.
Anastasia E Konstantinidou, Ioannis Ketsekioulafis, Lina Florentin
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Case in brief
The report describes four fetuses with lethal perinatal Gaucher disease: one diagnosis was genetically confirmed and three were based on histology. Prenatal hydrops was identified after 24 weeks’ gestation in each case, and all pregnancies were terminated. Autopsy confirmed hepatosplenomegaly in three fetuses and showed characteristic Gaucher cells in multiple organs. Brain involvement was reported in two cases. The authors also documented facial dysmorphism and, in the two male fetuses, micropenis; ichthyosiform skin changes typical of some neonatal or infant presentations were not generally seen in these fetuses.
What made this case unusual
The fetal cases included facial features and micropenis highlighted by the authors as newly described in this setting. In contrast, ichthyosiform skin changes reported in neonates and infants were not typically present; brain involvement varied.
Diagnostic / clinical pearl
In a fetus with hydrops, consider lethal Gaucher disease even without ichthyosiform skin changes; histology may reveal characteristic Gaucher cells across multiple organs.