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Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report.

Iole BrunodBarthélémy ToselloSophie HassidCatherine GireLaurent ThomachotMichel Panuel
Published in: BMC pediatrics (2018)
Three points of interest: the first one is to remind clinicians of this rare and atypical etiology in neonates with severe hypertension and in fetuses with cardiomyopathy and non-immune hydrops fetalis. The second point is the identification of a novel mutation in the ENPP1 gene associated with a clinical presentation of GACI. The third point is the fairly favourable outcome of our patient after bisphosphonates therapy, with calcifications regression but not hypertension.
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