ARC syndrome in preterm baby.
A preterm female infant born of 32 weeks gestational age was presenting with musculoskeletal abnormalities, and cholestasis that later on resolved. Later on, she developed renal tubular acidosis (RTA), poor weight gain, unexplained intermittent fever and recurrent spontaneous bleeding episodes. ARC is an acronym that stands for arthrogryposis, renal dysfunction and cholestasis. ARC syndrome is a rare disorder that is difficult to diagnose and is associated with poor outcomes. We present a case of ARC syndrome in an infant with a history of failure to thrive, early cholestasis and RTA. There are many unique features about this case that should add to our understanding of this genetic condition. To our knowledge this is the first identified case of ARC syndrome in a preterm infant. Although the specific mutation found in our patient has not been reported previously, the type and location of this mutation is consistent with our genetic understanding of this disorder.
Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
A
A
Elmeery
K
K
Lanka
J
J
Cummings
D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics; D001792:Blood Platelets / Q000648:ultrastructure; D002779:Cholestasis / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000175:diagnosis* / Q000235:genetics; D051437:Renal Insufficiency / Q000175:diagnosis* / Q000235:genetics