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

source extracted confidence: high 2026-04-09
#central-nervous-system-cysts #cerebral-hemorrhage #diagnosis-differential #female #holocarboxylase-synthetase-deficiency

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

Bandaralage et al., 2016 | Pediatr Radiol | Meta Analysis

Citation

Bandaralage Sahan P Semasinghe, Farnaghi Soheil, ... Kothari Alka. Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review. Pediatr Radiol. 2016-Mar;46(3):357-64. doi:10.1007/s00247-015-3492-8

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.

Key Findings

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.

Outcomes Measured

  • Requires manual extraction

Population

Field Value
Population holocarboxylase synthetase deficiency were
Sample Size 75
Age Range See abstract
Condition deficiency

MeSH Terms

  • Central Nervous System Cysts
  • Cerebral Hemorrhage
  • Diagnosis, Differential
  • Female
  • Holocarboxylase Synthetase Deficiency
  • Humans
  • Hydrocephalus
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Prevalence
  • Reproducibility of Results
  • Risk Assessment
  • Sensitivity and Specificity
  • Ultrasonography, Prenatal
  • Whole Body Imaging

Evidence Classification

  • Level: Meta Analysis
  • Publication Types: Journal Article, Meta-Analysis, Systematic Review
  • Vertical: biotin

Provenance

Source extracted via PubMed E-utilities API on 2026-04-09