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[GACI syndrome: a case report with a neonatal beginning]

C Freychet1, C Gay1, M-P Lavocat1

  • 1Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|April 29, 2014
PubMed

Insights

Generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE) are linked conditions causing arterial and tissue calcifications. This case highlights a patient with GACI who later developed PXE-like symptoms, illustrating their shared pathophysiology.

Area of Science:

  • Genetics
  • Pediatrics
  • Vascular Biology

Background:

  • Generalized arterial calcification of infancy (GACI) is a rare, severe autosomal recessive disorder.
  • GACI presents with arterial and periarticular calcifications, often leading to fatal cardiovascular complications in infancy.
  • Hypophosphatemic rickets (HR) can be a feature of GACI, indicating a potentially milder phenotype.

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