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Longitudinal assessment of vascular calcification in generalized arterial calcification of infancy

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Abstract

Background

Generalized arterial calcification of infancy (GACI), also known as idiopathic infantile arterial calcification, is a very uncommon genetic disorder characterized by calcifications and stenoses of large- and medium-size arteries that can lead to end-organ damage.

Objective

To describe changes in imaging findings in 10 children with GACI at a single institution from 2010 to 2021.

Materials and methods

In this retrospective study we reviewed initial and follow-up body imaging in children with genetic confirmation of GACI at our hospital. All initial images were analyzed for the presence and distribution of arterial calcifications, stenoses and wall thickening/irregularity within the chest, abdomen and pelvis. We compared available follow-up studies to the initial imaging findings. We extracted clinical information including prenatal and postnatal treatment from the children’s medical records.

Results

We evaluated 10 children (five boys) with a diagnosis of GACI. Median age at first body imaging was 8 days (range: 1 day to 5 years). Six children were identified prenatally and four postnatally. Postnatal presentation included cardiac failure, seizures and hypertension. Images in newborns (n = 8) most commonly showed diffuse arterial calcifications (6/8; 75%), while stenoses were less common (2/8; 25%) during this period. Two children were diagnosed after the neonatal period — one in infancy and one during childhood. In total, half the children (5/10; 50%) had arterial stenoses — three cases visualized at first imaging and two identified on follow-up images during infancy. Stenoses had completely resolved in one child (1/5; 20%) at last follow-up. Eight children received prenatal or postnatal treatment or both. All children who received both prenatal and postnatal treatment (n = 4) had completely resolved calcifications at last follow-up.

Conclusion

Children with GACI might have characteristic vascular calcifications at birth that raise the suspicion of this disease. Arterial calcifications decrease or disappear spontaneously or after treatment, but arterial stenoses usually persist. Calcifications and arterial stenoses can be easily identified and followed with non-contrast CT and CT angiography.

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Authors and Affiliations

  1. Department of Radiology, Children’s Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA

    Karen I. Ramirez-Suarez, Christian A. Barrera & Hansel J. Otero

  2. Department of Radiology at Weill Cornell Medicine, New York, NY, USA

    Sara A. Cohen

  3. Division of Endocrinology and Diabetes, Center for Bone Health, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Michael A. Levine

  4. Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

    Michael A. Levine & Hansel J. Otero

  5. Division of Cardiology, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    David J. Goldberg

Authors
  1. Karen I. Ramirez-Suarez
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  2. Sara A. Cohen
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  3. Christian A. Barrera
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  4. Michael A. Levine
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  6. Hansel J. Otero
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Correspondence to Hansel J. Otero.

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Ramirez-Suarez, K.I., Cohen, S.A., Barrera, C.A. et al. Longitudinal assessment of vascular calcification in generalized arterial calcification of infancy. Pediatr Radiol 52, 2329–2341 (2022). https://doi.org/10.1007/s00247-022-05364-0

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  • DOI: https://doi.org/10.1007/s00247-022-05364-0

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