Abstract
BACKGROUND: Generalized arterial calcification of infancy is a rare genetic disorder that was first reported in 1899. Since then, slightly more than 200 cases have been documented. This rare autosomal recessive disorder occurs when the homozygous ENPP1 gene mutation is associated with abnormal calcification in the medium and large arteries in the fetus. Overall mortality in individuals with generalized arterial calcification of infancy is high (55%) before the age of 6 months, with 24.4% dying in utero. Due to the high mortality rate, there is a critical need for additional reports and research regarding generalized arterial calcification of infancy. CASE: We submit a case report of a child with generalized arterial calcification of infancy-a unique instance in which the diagnosis was established prenatally and treatment was initiated in utero. Patient care was continued through a multidisciplinary approach coordinated between specialists across India, Australia, and the United States. There was an almost complete resolution of the calcification, with near-normal development and intellectual capacity of the child for age. CONCLUSION: Clear guidelines are needed regarding prenatal use of bisphosphonate therapy, timing, dosage, and duration of treatment for fetuses with ENPP1 gene mutations to minimize disease progression and improve neonatal health at birth. This case further illustrates how involving well-informed parents in decision making can help tailor the appropriate treatment. Our report also describes the possibility of new, ongoing clinical trials that may pave the way for a cure for this child and others.