PMC6251246_01
Clinical images of an 8-year old boy with glutaric aciduria type 1 showing (a) macrocrania, (b) hypotonia and inability of the child to sit without support.
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F1
On examination, there was macrocrania and severe muscular hypotonia [Figure 1] with superimposed dystonic movements in the child.
Prior contrast-enhanced computed tomography brain of the patient with glutaric aciduria type 1, performed at 15 months of age, showing mildly increased cerebrospinal fluid spaces anterior to the temporal lobes (red arrows), prominent sylvian fissures, bilateral subdural collections (blue arrows), and dilated ventricular system. No enhancing basal exudates are noted.
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F2
However, no CT evidence of enhancing basal exudates was found [Figure 2].
Prior noncontrast computed tomography (a-d) of the patient with glutaric aciduria type 1, obtained at 7 years of age, showing periventricular white matter hypodensities and cerebral atrophy with predominant involvement of temporal lobes, seen as increased cerebrospinal fluid space anterior to temporal lobes (red arrows) and lack of operculation bilaterally leading to bat wing configuration of sylvian fissures (yellow arrows).
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F3
Bilaterally symmetric periventricular hypodensities were also observed [Figure 3].
Present magnetic resonance imaging images of the patient with glutaric aciduria at 8 years. T2-weighted images (a) shows widened cerebrospinal fluid spaces anterior to the temporal lobes (red arrows) with temporal lobe hypoplasia and (b) shows lack of operculation with widened sylvian fissures - "Bat Wing appearance" (blue arrows). Axial T2 (c and d) and fluid-attenuated inversion recovery (e and f) images showing diffuse cerebral atrophy with dilated ventricles, widened sylvian fissures (yellow arrows), periventricular white matter hyperintensities along with hyperintense signal and atrophy of bilateral putamina (white arrows).
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F4
Additionally, there was bilateral symmetric putaminal atrophy with T2W/FLAIR hyperintensities within [Figure 4].