Teaching NeuroImages Neurology Resident and Fellow Section

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Teaching NeuroImages Neurology Resident and Fellow Section Acute neuropsychological disorders in a 32 year old pregnant woman Teaching NeuroImages Neurology Resident and Fellow Section © 2015 American Academy of Neurology

Vignette A 32 year old pregnant woman developed over 3 weeks, after change in dietary intake, progressive neuropsychological disorders (apathy and apraxia) associated with behavior disorders. The patient rapidly worsened, had impaired consciousness and a coma. Neurological examination revealed a calm coma without focal signs. Biological tests showed hyperammonemia. Bailly et al © 2015 American Academy of Neurology

Imaging Bailly et al Figure 1: T2 FLAIR axial MRI. Bilateral temporal, peri-insular and frontal cortex hypersignal and thickening, with thalami sparing. Subcortical U fibers were affected. Bailly et al © 2015 American Academy of Neurology

Imaging Bailly et al Figure 2: Magnetic resonance spectroscopy. Increase levels of glutamine-glutamate and slight decrease levels of myo-inositol. NAA: N-acetyl-aspartate; Glx: glutamine and glutamate complex; Cr: creatine; Cho: choline; mI: myo-inositol; Glx: glutamine and glutamate complex; Cr2: creatine. Arrow includes the peaks of glutamine and glutamate complex. Typical MRI and MRS findings in OTC deficiency are T1 and T2 hypersignals, located in cerebral cortex, preferentially in peri-insular Bailly et al © 2015 American Academy of Neurology

Ornithine Transcarbamylase (OTC) deficiency. Accumulation of ammonia and amino-acids located upstream in the urea cycle1. Wide phenotypical spectrum. MRI shows T1 and T2 hypersignal, located in cerebral cortex, preferentially in peri-insular regions and the basal ganglia. Magnetic resonance spectroscopy shows increase levels of glutamine-glutamate and decrease levels of myo-inositol2. Treatment: eliminate the toxic metabolites by diverting nitrogen from urea cycle and chelating it. limit the production of toxic metabolites by reducing the intake of protein and avoiding catabolic process1. 1. Bireley WR, Hove JLKV, Gallagher RC, Fenton LZ. Urea cycle disorders: brain MRI and neurological outcome. Pediatr. Radiol. 2012;42:455‑62. 2. Gropman A. Brain imaging in urea cycle disorders. Mol Genet Metab. 2010;100, Supplement:S20-30. Bailly et al © 2015 American Academy of Neurology

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