Pediatric radiology · 1996
Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Woelfle J, Kreft B, Emons D, Haverkamp F
Аннотация
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.
Предметные рубрики MeSH
Amino Acid Metabolism, Inborn ErrorsAtrophyCisterna MagnaDevelopmental DisabilitiesDiagnosis, DifferentialFemaleFrontal LobeGlutaratesGlutaryl-CoA DehydrogenaseHematoma, SubduralHumansInfantLysineMagnetic Resonance ImagingMovement DisordersOxidoreductasesOxidoreductases Acting on CH-CH Group DonorsPsychomotor PerformanceTemporal LobeTomography, X-Ray ComputedTryptophan