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Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall.

Abstract
The case of a 9-month-old girl with glutaric aciduria type 1 (GA 1) is reported. On initial presentation at 6 months of age, the patient demonstrated bilateral subdural hemorrhages and widening of the basal cisterns. After neurosurgical intervention the subdural effusions regressed; their etiology remained unclear. At the age of 9 months the patient presented again because of progressive loss of psychomotor abilities and a dystonic movement disorder. Cerebral MRI revealed regressive subdural hematoma, but marked frontotemporal atrophy as well. Because of a suspected metabolic disorder, urinary analysis of organic acids was performed. This repeatedly showed marked excretion of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid, indicating a diagnosis of GA 1. Considering our patient's history, we recommend the inclusion of GA 1 in the differential diagnosis of patients with unexplained subdural hematoma and neurological deficits.
AuthorsJ Woelfle, B Kreft, D Emons, F Haverkamp
JournalPediatric radiology (Pediatr Radiol) Vol. 26 Issue 11 Pg. 779-81 (Nov 1996) ISSN: 0301-0449 [Print] Germany
PMID8929376 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Glutarates
  • Tryptophan
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • Glutaryl-CoA Dehydrogenase
  • glutaric acid
  • Lysine
Topics
  • Amino Acid Metabolism, Inborn Errors (diagnosis, urine)
  • Atrophy
  • Cisterna Magna (diagnostic imaging, pathology)
  • Developmental Disabilities (diagnosis)
  • Diagnosis, Differential
  • Female
  • Frontal Lobe (diagnostic imaging, pathology)
  • Glutarates (urine)
  • Glutaryl-CoA Dehydrogenase
  • Hematoma, Subdural (diagnosis, diagnostic imaging)
  • Humans
  • Infant
  • Lysine (metabolism)
  • Magnetic Resonance Imaging
  • Movement Disorders (diagnosis)
  • Oxidoreductases (deficiency)
  • Oxidoreductases Acting on CH-CH Group Donors
  • Psychomotor Performance
  • Temporal Lobe (diagnostic imaging, pathology)
  • Tomography, X-Ray Computed
  • Tryptophan (metabolism)

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