Presentation
Macrocephaly, seizures, and delayed motor skills
Patient Data
bilateral dilated Sylvian fissures and subarachnoid space anterior to temporal lobes with small temporal opercula giving bat wing configuration
bilateral temporal pole cysts
dilated extra-axial CSF spaces
delayed myelination relative to patient's age
bilateral symmetrical high signal involving the basal ganglia (globus pallidi) and tegmental tracts as well as dentate nuclei
bilateral subdural collection of intermediate signal on T1 and bright signal on T2
Follow up MRI almost a year later showed:
progression of the abnormal bilateral symmetrical signal intensity of the basal ganglia and white matter tracts with evident diffusion restriction
resolution of the extra-axial collections
mild dilatation of the ventricular system
Case Discussion
Urine tests revealed elevated glutaric acid and 3-hydroxyglutaric acid which is in keeping with glutaric aciduria. The clinical presentation of macrocephaly and seizures favors type I since type II usually affects the kidneys and the heart. Type III glutaric aciduria is often asymptomatic. Unfortunately, DNA testing was not available for this case.
The case also shows classic imaging features of glutaric aciduria type 1 in the form of enlarged Sylvian fissures, bilateral basal ganglia and tegmental signal abnormalities as well as dilated subarachnoid spaces and temporal pole cysts.
The important point in this case is the presence of bilateral subdural hematomas. In patients with glutaric aciduria, the expansion of convexity subarachnoid spaces renders the coursing bridging veins susceptible to rupture with minor trauma, and these patients may present with subdural hemorrhages. These hemorrhages shouldn't be confused with non-accidental injuries.
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