Pediatric Radiology

, Volume 46, Issue 3, pp 357–364 | Cite as

Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review

  • Sahan P. Semasinghe Bandaralage
  • Soheil Farnaghi
  • Joel M. Dulhunty
  • Alka KothariEmail author
Original Article



Holocarboxylase synthetase deficiency results in impaired activation of enzymes implicated in glucose, fatty acid and amino acid metabolism. Antenatal imaging and postnatal imaging are useful in making the diagnosis. Untreated holocarboxylase synthetase deficiency is fatal, while antenatal and postnatal biotin supplementation is associated with good clinical outcomes. Although biochemical assays are required for definitive diagnosis, certain radiologic features assist in the diagnosis of holocarboxylase synthetase deficiency.


To review evidence regarding radiologic diagnostic features of holocarboxylase synthetase deficiency in the antenatal and postnatal period.

Materials and methods

A systematic review of all published cases of holocarboxylase synthetase deficiency identified by a search of Pubmed, Scopus and Web of Science.


A total of 75 patients with holocarboxylase synthetase deficiency were identified from the systematic review, which screened 687 manuscripts. Most patients with imaging (19/22, 86%) had abnormal findings, the most common being subependymal cysts, ventriculomegaly and intraventricular hemorrhage.


Although the radiologic features of subependymal cysts, ventriculomegaly, intraventricular hemorrhage and intrauterine growth restriction may be found in the setting of other pathologies, these findings should prompt consideration of holocarboxylase synthetase deficiency in at-risk children.


Biotin Fetus Holocarboxylase synthetase deficiency Intraventricular hemorrhage Neonate Subependymal cysts Ventriculomegaly 



We thank Dr. Tanya Wood, radiologist, Redcliffe Hospital, for assistance with images and providing peer review of the manuscript. We also thank the parents of the child with holocarboxylase synthetase deficiency delivered at our institution for providing consent to include clinical information and relevant imaging pictures.

Compliance with ethical standards

Conflicts of interest


Supplementary material

247_2015_3492_MOESM1_ESM.doc (1.9 mb)
Supplement 1 (DOC 1973 kb)


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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Sahan P. Semasinghe Bandaralage
    • 1
    • 2
  • Soheil Farnaghi
    • 3
  • Joel M. Dulhunty
    • 4
    • 5
  • Alka Kothari
    • 4
    • 5
    Email author
  1. 1.Gold Coast Hospital and Health ServiceSouthportAustralia
  2. 2.School of MedicineGriffith UniversitySouthportAustralia
  3. 3.Caboolture HospitalCabooltureAustralia
  4. 4.Redcliffe Hospital, RedcliffeQueenslandAustralia
  5. 5.School of MedicineThe University of QueenslandHerstonAustralia

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