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.
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Authors | J Woelfle, B Kreft, D Emons, F Haverkamp |
Journal | Pediatric radiology
(Pediatr Radiol)
Vol. 26
Issue 11
Pg. 779-81
(Nov 1996)
ISSN: 0301-0449 [Print] Germany |
PMID | 8929376
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Glutarates
- Tryptophan
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors
- Glutaryl-CoA Dehydrogenase
- glutaric acid
- Lysine
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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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