title: Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.
abstract: Patients with glutaric aciduria type 1 (GA1), a rare inherited metabolic disorder, have an increased risk for subdural hematomas (SDHs). GA1 is therefore generally included in the differential diagnosis of children presenting with SDHs. This retrospective cohort study reviews all 25 registered, in the Dutch Diagnosis Registration for Metabolic Disorders, GA1 patients in the Netherlands. This was done between May 2014 and November 2014 to determine the lifetime incidence of SDHs in this population. Seventeen patients were diagnosed either due to clinical symptoms or because of family members with GA1. One out of these 17 had a SDH. This patient showed widened Sylvian fissures on MRI, characteristic for GA1. Eight patients were diagnosed by newborn screening. Three of them had neuroimaging results, and none of them had SDHs. This study shows an overall lower incidence (4.0 %) of SDHs in patients with GA1 than reported in the literature (20-30 %).
  
  
  CONCLUSIONS
  This finding, in combination with the fact that SDHs in GA1 appear to occur only in the presence of characteristic brain abnormalities on imaging, we recommend that GA1 should not routinely be a part of the differential diagnosis of children with unexplained SDHs in the absence of imaging characteristics suggestive of GA1.
  
  
  BACKGROUND
  • Glutaric aciduria type 1 is a rare metabolic disorder predisposing children to subdural hematoma development due to brain abnormalities. • Because of these subdural hematomas, glutaric aciduria type 1 testing is part of abusive head trauma work-up. What is new: • The overall subdural hematoma incidence in glutaric aciduria type 1 patients is much lower than previously reported and only occurs in case of predisposing brain abnormalities.
authors.affiliation: Department of Radiology, Amsterdam Medical Center, Room G1-213, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.e.vester@amc.uva.nl.|Department of Forensic Medicine, Netherlands Forensic Institute, The Hague, The Netherlands. m.e.vester@amc.uva.nl.
authors.forename: Marloes E M
authors.initials: ME
authors.lastname: Vester
authors.affiliation: Department of Metabolic Diseases, Wilhelmina Children's Hospital-University Medical Center Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands.
authors.forename: Gepke
authors.initials: G
authors.lastname: Visser
authors.affiliation: Department of Pediatrics-Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
authors.forename: Frits A
authors.initials: FA
authors.lastname: Wijburg
authors.affiliation: Division of Metabolic Diseases, Beatrix Children's Hospital-University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713 GZ, Groningen, The Netherlands.
authors.forename: Francjan J
authors.initials: FJ
authors.lastname: van Spronsen
authors.affiliation: Sophia Children's Hospital-Erasmus Medical Center, 's-Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands.
authors.forename: Monique
authors.initials: M
authors.lastname: Williams
authors.affiliation: Department of Radiology, Amsterdam Medical Center, Room G1-213, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.|Department of Forensic Medicine, Netherlands Forensic Institute, The Hague, The Netherlands.
authors.forename: Rick R
authors.initials: RR
authors.lastname: van Rijn
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology*; D001928:Brain Diseases, Metabolic / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D006408:Hematoma, Subdural / Q000000981:diagnostic imaging / Q000209:etiology*; D006801:Humans; D015994:Incidence; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009426:Netherlands / Q000453:epidemiology; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D050770:Glutaryl-CoA Dehydrogenase
keywords: Abusive head trauma; Forensic radiology; Glutaric aciduria type 1; Metabolic disorder; Subdural hematoma