[GACI syndrome: a case report with a neonatal beginning].
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.
Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France. Electronic address: caroline.freychet@yahoo.fr.
C
C
Freychet
Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France.
C
C
Gay
Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France.
M-P
MP
Lavocat
Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France.
G
G
Teyssier
Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France.
H
H
Patural
Service de néphrologie et rhumatologie pédiatrique, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron, France.
J
J
Bacchetta
Service de chirurgie pédiatrique, hôpital Lapeyronie, 191, avenue du Doyen Gaston-Giraud, 34295 Montpellier, France.
J
J
Cottalorda
Service d'immuno-hématologie et rhumatologie pédiatrique, hôpital Necker, AP-HP, 149, rue de Sèvres, 75015 Paris, France.
B Bader
BB
Meunier
Service d'endocrinologie et de diabétologie pédiatrique, CHU de Bicêtre, 78, rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, France.
A
A
Linglart
Service de génétique, hôpital Necker, AP-HP, 149, rue de Sèvres, 75015 Paris, France.
G
G
Baujat
Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France.
J-L
JL
Stephan
D002648:Child; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010727:Phosphoric Diester Hydrolases / Q000235:genetics; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis; D011755:Pyrophosphatases / Q000235:genetics; D063730:Rickets, Hypophosphatemic / Q000175:diagnosis / Q000235:genetics; D061205:Vascular Calcification / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics
D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases