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.

Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I

“…Pure metabolic stroke is routinely reported in glutaric, isovaleric, methylmalonic and propionic acidurias [5]. Additionally, the organic acidurias have been associated with spontaneous intracranial hemorrhage, suggesting a vascular component may contribute to brain injury in these disorders [6,7]. The subdural and retinal hemorrhages frequently found in glutaric aciduria type I (GA1) may be mistaken for non-accidental head trauma, with severe legal and emotional consequences for families [7,8].…”

Striatal necrosis in type 1 glutaric aciduria: Different stages in two siblings

“…Subdural hemorrhage with/without retinal hemorrhage due to stretched bridging veins may be an initial sign of glutaric aciduria type 1 and can be a diagnostic pit fall[34] since post-traumatic and nonaccidental causes have to be excluded.…”

Glutaric Aciduria Type 1 and Nonaccidental Head Injury

“…2 In other instances prominence of the subarachnoid spaces (especially of the sylvian fissures) is a factor, 3 with or without an additional contribution from chronic or acute subdural hematomas. 4 Subcortical white matter changes, lesions of the basal ganglia, and ventricular dilatation are also described. Very likely there is a comprehensible evolutionary relationship among these states related to age, treatment status, and the occurrence or avoidance of the acute encephalopathic crises that typify this condition.…”