INTRACRANIAL SUBDURAL EFFUSIONS AND RETINAL HEMORRHAGES, SIMULATING CHILD ABUSE, IN A PATIENT DIAGNOSED WITH GLUTARIC ACIDURIA TYPE II

Background: Subdural hematomas and retinal hemorrhages, in an infant presenting with central nervous system dysfunction, are findings that raise suspicion for child abuse. However, the same findings may accompany the initial presentation of some neurometabolic conditions. Although glutaric aciduria type I has been reported several times as a child abuse simulator, no similar report exists for glutaric aciduria (GA) type II, also known as multiple acyl-CoA dehydrogenation deficiency (MIM 231680). Here we describe for the first time a patient with GA type II who presented during infancy with subdural hematomas and retinal hemorrhages initially interpreted as signs of child abuse.

Case Report: We describe a five-month old patient with known macrocephaly presenting with protracted emesis and seizures. Because of neuroimaging evidence of subdural hematomas and fundoscopic evidence of retinal abnormalities consistent with hemorrhage, investigation of possible child abuse was initiated prior to neurometabolic testing. The absence of other signs of abuse, the presence of frontotemporal atrophy with wide operculum on MRI, and the evidence of retinal dysplasia on neuro-ophthalmologic evaluation prompted a detailed metabolic evaluation. Analysis of urinary organic acids and an abnormal acylcarnitine profile raised suspicion of a fatty acid oxidation defect, specifically GA type II. Subsequent in vitro analysis of cultured fibroblasts from the patient confirmed the diagnosis of GA type II due to electroflavoprotein-ubiquinone oxidoreductase deficiency. The patient was treated with riboflavin and a low fat diet with good response.

Conclusion: Neurometabolic conditions should be considered in the differential diagnosis of patients presenting with subdural hematomas and retinal hemorrhages, particularly in the absence of additional evidence of abuse. Distinct neuroimaging and neuro-ophthalmologic findings may be of crucial diagnostic importance. Glutaric aciduria type II can be a child abuse simulator and should be considered in the differential diagnosis.