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Idiopathic arterial calcification of infancy with unusual clinical presentations in sisters
R J Stanley1, W D Edwards, D A Rommel
1Department of Pathology, Mayo Clinic, Rochester, Minnesota.
Insights
Idiopathic arterial calcification of infancy (IAC) is a rare condition. This report details two sisters with IAC, highlighting the severe and often fatal outcomes of this infantile disorder.
Area of Science:
- Pediatric Pathology
- Cardiovascular Genetics
- Neonatal Medicine
Background:
- Idiopathic arterial calcification of infancy (IAC) is a rare, severe, and often fatal genetic disorder affecting newborns.
- Characterized by widespread calcification of the arterial walls, leading to stenosis and potential heart failure.
- Genetic mutations in the ENPP1 gene are the most common cause, though other genetic factors are being investigated.
Observation:
- This report details two sisters diagnosed with idiopathic arterial calcification of infancy.
- The first sister experienced a prolonged illness with nephrotic syndrome, hypertension, seizures, and microangiopathic hemolytic anemia, succumbing at 14 months.
- The second sister had a rapid, fatal course presenting in early infancy, initially misdiagnosed at autopsy.
Findings:
- The clinical presentation of IAC can be variable, ranging from rapid demise to a more protracted course.
- Autopsy findings in IAC typically reveal extensive calcification of the tunica media in medium and large arteries.
- Associated complications include renal failure, neurological deficits, and hematological abnormalities.
Implications:
- Early recognition and diagnosis of IAC are crucial for appropriate management and genetic counseling.
- Understanding the genetic basis of IAC can lead to improved diagnostic tools and potential therapeutic targets.
- Further research into the pathogenesis of IAC may uncover novel treatment strategies for this devastating condition.
Abstract:
Two cases of idiopathic arterial calcification of infancy that occurred in sisters are reported. One patient died at age 14 months after a protracted course characterized by the nephrotic syndrome, blood chemistry abnormalities, hypertension, seizures, and a microangiopathic hemolytic anemia. Her sister died at age 3 weeks after a precipitous illness that initially was misinterpreted at autopsy as Reye's syndrome.