Tags

Type your tag names separated by a space and hit enter

[GACI syndrome: a case report with a neonatal beginning].
Arch Pediatr. 2014 Jun; 21(6):632-6.AP

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.

Authors+Show Affiliations

Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France. Electronic address: caroline.freychet@yahoo.fr.Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France.Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France.Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France.Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France.Service de néphrologie et rhumatologie pédiatrique, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron, France.Service de chirurgie pédiatrique, hôpital Lapeyronie, 191, avenue du Doyen Gaston-Giraud, 34295 Montpellier, France.Service d'immuno-hématologie et rhumatologie pédiatrique, hôpital Necker, AP-HP, 149, rue de Sèvres, 75015 Paris, France.Service d'endocrinologie et de diabétologie pédiatrique, CHU de Bicêtre, 78, rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, France.Service de génétique, hôpital Necker, AP-HP, 149, rue de Sèvres, 75015 Paris, France.Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France.

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

24768072

Citation

Freychet, C, et al. "[GACI Syndrome: a Case Report With a Neonatal Beginning]." Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, vol. 21, no. 6, 2014, pp. 632-6.
Freychet C, Gay C, Lavocat MP, et al. [GACI syndrome: a case report with a neonatal beginning]. Arch Pediatr. 2014;21(6):632-6.
Freychet, C., Gay, C., Lavocat, M. P., Teyssier, G., Patural, H., Bacchetta, J., Cottalorda, J., Meunier, B. B., Linglart, A., Baujat, G., & Stephan, J. L. (2014). [GACI syndrome: a case report with a neonatal beginning]. Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 21(6), 632-6. https://doi.org/10.1016/j.arcped.2014.03.004
Freychet C, et al. [GACI Syndrome: a Case Report With a Neonatal Beginning]. Arch Pediatr. 2014;21(6):632-6. PubMed PMID: 24768072.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [GACI syndrome: a case report with a neonatal beginning]. AU - Freychet,C, AU - Gay,C, AU - Lavocat,M-P, AU - Teyssier,G, AU - Patural,H, AU - Bacchetta,J, AU - Cottalorda,J, AU - Meunier,B Bader, AU - Linglart,A, AU - Baujat,G, AU - Stephan,J-L, Y1 - 2014/04/24/ PY - 2013/11/17/received PY - 2014/03/18/accepted PY - 2014/4/29/entrez PY - 2014/4/29/pubmed PY - 2015/1/7/medline SP - 632 EP - 6 JF - Archives de pediatrie : organe officiel de la Societe francaise de pediatrie JO - Arch Pediatr VL - 21 IS - 6 N2 - 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. SN - 1769-664X UR - https://www.unboundmedicine.com/medline/citation/24768072/[GACI_syndrome:_a_case_report_with_a_neonatal_beginning]_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0929-693X(14)00134-1 DB - PRIME DP - Unbound Medicine ER -