Fetal hydrops, hyperechogenic arteries and pathological doppler findings at 29 weeks: prenatal presentation of generalized arterial calcification of infancy - a novel mutation in ENPP1.
Prenatal diagnosis of generalized arterial calcification of infancy (GACI) (OMIM #208000) is difficult and rare. There are various known gene mutations in ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) locus 6q22-q23. We present a case of suspected intrauterine diagnosis at 29 weeks of gestation in a consanguineous couple. The sonographic findings were fetal hydrops (hydrothorax, skin edema, ascites, pericardial effusion and polyhydramnion), echogenic great arteries and pathological Doppler findings. An intrauterine therapy with bisphosphonates was considered, but delayed due to rapid deterioration in fetal Doppler flows with suspected fetal asphyxia. The couple was informed about the most unfavorable prognosis in fetal hydrops, however, they opted for elective delivery. A cesarean section was performed. Early neonatal death occurred due to primary intracranial hemorrhage. Postmortem and genetic testing confirmed a novel mutation in the ENPP1 gene.
Reitter
A
A
Department of Obstetrics and Gynecology, University Hospital Frankfurt, Frankfurt am Main, Germany. anke.reitter@kgu.de
Fischer
D
D
Buxmann
H
H
Nitschke
Y
Y
Rutsch
F
F
Mottok
A
A
Hansmann
M L
ML
Harms
E
E
Louwen
F
F
Schlosser
R
R
D000328:Adult; D001011:Aorta / Q000000981:diagnostic imaging / Q000473:pathology; D050197:Atherosclerosis / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D002114:Calcinosis / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D003241:Consanguinity; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging* / Q000235:genetics; D006876:Hydrothorax / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D011247:Pregnancy; D011755:Pyrophosphatases / Q000235:genetics*; D016216:Ultrasonography, Prenatal; D014469:Umbilical Arteries / Q000000981:diagnostic imaging / Q000473:pathology
D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases