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

Bandaralage, Sahan P. Semasinghe, Farnaghi, Soheil, Dulhunty, Joel M. and Kothari, Alka (2016) Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review. Pediatric Radiology, 46 3: 357-364. doi:10.1007/s00247-015-3492-8


Author Bandaralage, Sahan P. Semasinghe
Farnaghi, Soheil
Dulhunty, Joel M.
Kothari, Alka
Title Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review
Journal name Pediatric Radiology   Check publisher's open access policy
ISSN 1432-1998
0301-0449
Publication date 2016-01-11
Year available 2016
Sub-type Article (original research)
DOI 10.1007/s00247-015-3492-8
Open Access Status Not Open Access
Volume 46
Issue 3
Start page 357
End page 364
Total pages 8
Place of publication Heidelberg, Germany
Publisher Springer
Collection year 2017
Language eng
Formatted 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.
Keyword Biotin
Fetus
Holocarboxylase synthetase deficiency
Intraventricular hemorrhage
Neonate
Subependymal cysts
Ventriculomegaly
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
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