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Pediatric Radiology
Erschienen in: Pediatric Radiology 3/2016

01.03.2016 | Original Article

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

verfasst von: Sahan P. Semasinghe Bandaralage, Soheil Farnaghi, Joel M. Dulhunty, Alka Kothari

Erschienen in: Pediatric Radiology | Ausgabe 3/2016

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Abstract

Background

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.

Objective

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.

Results

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.

Conclusion

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.
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Metadaten
Titel
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review
verfasst von
Sahan P. Semasinghe Bandaralage
Soheil Farnaghi
Joel M. Dulhunty
Alka Kothari
Publikationsdatum
01.03.2016
Verlag
Springer Berlin Heidelberg
Erschienen in
Pediatric Radiology / Ausgabe 3/2016
Print ISSN: 0301-0449
Elektronische ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-015-3492-8

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