Prenatal revelation of Niemann-Pick disease type C in siblings

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 ch...

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Bibliographic Details
Published in:Acta Paediatrica 2008-08, Vol.97 (8), p.1136-1139
Main Authors: Moreno, Rubén, Lardennois, Caroline, Drouin-Garraud, Valérie, Verspyck, Eric, Marret, Stéphane, Laquerrière, Annie
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Carrier Proteins - genetics
Errors of metabolism
Female
Fetal form
General aspects
Hepatomegaly - diagnosis
Humans
Infant, Newborn
Intrafamilial phenotypic variability
Lipids (lysosomal enzyme disorders, storage diseases)
Medical sciences
Membrane Glycoproteins - genetics
Metabolic diseases
Niemann-Pick disease type C
Niemann-Pick Disease, Type C - diagnosis
Niemann-Pick Disease, Type C - genetics
NPC1 gene
Pregnancy
Prenatal Diagnosis
Siblings
Spleen - pathology
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Summary: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.
ISSN:0803-5253
1651-2227
DOI:10.1111/j.1651-2227.2008.00829.x