Glutaric aciduria type 1 presenting as bilateral subdural hematomas mimicking nonaccidental trauma. Case report and review of the literature

Abstract

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.