Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall.
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.
Woelfle
J
J
Zentrum für Kinderheilkunde, Rhein. Friedrich-Wilhelms-Universität, Adenauerallee 119, D-53113 Bonn, Germany.
Kreft
B
B
Emons
D
D
Haverkamp
F
F
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000652:urine; D001284:Atrophy; D002946:Cisterna Magna / Q000000981:diagnostic imaging / Q000473:pathology; D002658:Developmental Disabilities / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D005625:Frontal Lobe / Q000000981:diagnostic imaging / Q000473:pathology; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006408:Hematoma, Subdural / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008239:Lysine / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009069:Movement Disorders / Q000175:diagnosis; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011597:Psychomotor Performance; D013702:Temporal Lobe / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014364:Tryptophan / Q000378:metabolism
D005977:Glutarates; D014364:Tryptophan; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid; D008239:Lysine