Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review
| Autor: | Soheil Farnaghi, Sahan P. Semasinghe Bandaralage, Alka Kothari, Joel M. Dulhunty |
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| Rok vydání: | 2016 |
| Předmět: |
Male
medicine.medical_specialty Pediatrics Holocarboxylase Synthetase Deficiency Intrauterine growth restriction Risk Assessment Sensitivity and Specificity Ultrasonography Prenatal Diagnosis Differential 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Biotin 030225 pediatrics Internal medicine Prevalence Subependymal cysts Humans Medicine Whole Body Imaging Radiology Nuclear Medicine and imaging Central Nervous System Cysts Cerebral Hemorrhage Neuroradiology Holocarboxylase synthetase deficiency Fetus business.industry Infant Newborn Reproducibility of Results medicine.disease Magnetic Resonance Imaging Intraventricular hemorrhage Endocrinology chemistry Pediatrics Perinatology and Child Health Female business 030217 neurology & neurosurgery Hydrocephalus Ventriculomegaly |
| Zdroj: | Pediatric Radiology. 46:357-364 |
| ISSN: | 1432-1998 0301-0449 |
| DOI: | 10.1007/s00247-015-3492-8 |
| Popis: | 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. 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. |
| Databáze: | OpenAIRE |
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