Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literature.
Generalized arterial calcification of infancy (GACI) is a rare genetic disorder consisting of diffuse arterial calcification and intimal proliferation. The disease typically results in progressive arterial stenosis and frequently leads to death from myocardial ischemia by 6 months of life. Affected infants are usually diagnosed before birth or in the neonatal period with symptoms of congestive heart failure. Therapy with bisphosphonate has been used to treat the condition, but with inconsistent results. The disease is associated with mutations in ENPP1 in the majority of the cases. Here we report a unique case of GACI associated with in utero meconium peritonitis and without coding region mutations of the ENPP1 gene. GACI should be considered in the differential diagnosis in infants presenting with arterial calcifications and congenital anomalies of the gastrointestinal tract.
Sawyer
Taylor
T
Department of Pediatrics, Tripler Army Medical Center, Honolulu, Hawaii, USA. taylor.l.sawyer@us.army.mil
Stacey
Michelle
M
Mulreany
Michael
M
Thompson
Mark
M
Nitschke
Yvonne
Y
Rutsch
Frank
F
Mahnke
C Becket
CB
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D001018:Aortic Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D002114:Calcinosis / Q000000981:diagnostic imaging* / Q000235:genetics; D003025:Clubfoot / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008470:Meconium / Q000000981:diagnostic imaging*; D010538:Peritonitis / Q000000981:diagnostic imaging* / Q000235:genetics; D010727:Phosphoric Diester Hydrolases; D011755:Pyrophosphatases; D012600:Scoliosis / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal
D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases