Glutaric aciduria type 1 presenting as bilateral subdural hematomas mimicking nonaccidental trauma. Case report and review of the literature.
Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder with characteristic neuroimaging and clinicopathological features. The authors describe a case of GA1 in a 7-month-old girl presenting with macrocephaly and bilateral subdural hematomas (SDHs) who was initially evaluated for nonaccidental trauma (NAT). Bilateral subdural drains were placed because of significant mass effect from the chronic SDHs, with subsequent neurological and neuroimaging-documented improvement. Clinical and neuroimaging findings led to further laboratory investigation to confirm the diagnosis of GA1, after which a specialized low-protein diet was initiated. After a thorough investigation, NAT was ruled out. At the follow-up examination, the patient experienced improvement in her symptoms and resolution of the bilateral subdural collections. The presence of bilateral SDHs in an infant raises the suspicion of NAT and presents a difficult diagnostic challenge because of the legal and social implications. Glutaric aciduria type 1 should be considered in the differential diagnosis of bilateral SDHs, and an evaluation should be performed. The authors review the clinical manifestations, diagnosis, medical and surgical management, and specific considerations regarding GA1, including misdiagnosis of NAT.
Bishop
Frank S
FS
Department of Neurosurgery, Primary Children's Medical Center, University of Utah School of Medicine, Salt Lake City, Utah 84113, USA.
Liu
James K
JK
McCall
Todd D
TD
Brockmeyer
Douglas L
DL
D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D001930:Brain Injuries / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D005977:Glutarates / Q000378:metabolism*; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D046648:Hematoma, Subdural, Intracranial / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D006801:Humans; D007223:Infant
D005977:Glutarates; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid