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Prenatal revelation of Niemann–Pick disease type C in siblings
Author(s) -
Moreno Rubén,
Lardennois Caroline,
DrouinGarraud Valérie,
Verspyck Eric,
Marret Stéphane,
Laquerrière Annie
Publication year - 2008
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2008.00829.x
Subject(s) - medicine , prenatal diagnosis , niemann–pick disease , polyhydramnios , gestation , ascites , fetus , amniotic fluid , hepatosplenomegaly , niemann–pick disease, type c , pregnancy , pathology , disease , obstetrics , genetics , biology
Objectives: To report two cases of prenatal Niemann–Pick disease type C in siblings, with different prenatal semiology and postnatal outcome. Case reports: First fetus presented at 22 weeks'gestation with ascites, hepatosplenomegaly, then polyhydramnios. At birth, the infant developed severe cholestasis and died at day 5. His brother presented at 22 weeks'gestation an isolated hepatomegaly with cholestasis at birth showing favourable evolution. In first case, diagnosis of Niemann–Pick disease was confirmed by autopsy findings, biochemical tests on cultured skin fibroblasts and ascites fluid, then by molecular screening of NPC1 gene. Brother's molecular prenatal diagnosis was made at 14 weeks' gestation on cultured trophoblasts. Conclusion: Prenatal screening of this disease is particularly indicated in case of fetal ascites with hypoferritinaemia. Tests on amniotic or ascites fluid cells allow to characterize the biochemical phenotype, leading to search for molecular abnormalities. Despite the same mutation identified in siblings, disease evolution is variable, which underlines complexity of genetic counselling.