Abstract |
GACI (generalized arterial calcification of infancy) is a rare autosomal recessive disorder characterized by arterial and periarticular calcifications. Most children die in the first months of life of cardiovascular complications. Hypophosphatemic rickets (HR) resistant to medical treatment may complete the phenotype and is associated with a milder phenotype. This report discusses the case of a girl who presented neonatal ectopic periarticular calcifications with spontaneous regression, and then at the age of 3 years developed HR. There was no clinical improvement after treatment with calcitriol and phosphate, and correction of alkaline phosphatase induced the recurrence of periarticular and tissular calcifications : the treatment was reduced and the bone distortion treated by surgery. GACI diagnosis was confirmed by genetic analysis. At the age of 4.5 years, she developed a retinal abnormality and decreased radial pulse: these clinical signs are usually observed in pseudoxanthoma elasticum (PXE). It is now established that GACI and PXE belong to the same entity characterized by arterial and tissular calcifications of which this original case report is an illustration.
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Authors | C Freychet, C Gay, M-P Lavocat, G Teyssier, H Patural, J Bacchetta, J Cottalorda, B Bader Meunier, A Linglart, G Baujat, J-L Stephan |
Journal | Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
(Arch Pediatr)
Vol. 21
Issue 6
Pg. 632-6
(Jun 2014)
ISSN: 1769-664X [Electronic] France |
Vernacular Title | Le syndrome GACI : à propos d'une observation à début néonatal. |
PMID | 24768072
(Publication Type: Case Reports, English Abstract, Journal Article)
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Copyright | Copyright © 2014 Elsevier Masson SAS. All rights reserved. |
Chemical References |
- Phosphoric Diester Hydrolases
- ectonucleotide pyrophosphatase phosphodiesterase 1
- Pyrophosphatases
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Topics |
- Child
- Female
- Humans
- Infant, Newborn
- Mutation
- Phosphoric Diester Hydrolases
(genetics)
- Pseudoxanthoma Elasticum
(diagnosis)
- Pyrophosphatases
(genetics)
- Rickets, Hypophosphatemic
(diagnosis, genetics)
- Vascular Calcification
(congenital, diagnosis, genetics)
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