An Acute Encephalopathy Accelerated by a Large Amount of Milk Consumption

Following the report of two Canadian Aboriginal patients with severe hepatic failure by Mhanni et al. (2006), 1 suffering from hyperammonemia, hyperornithinemia, and hyperhomocitrullinuria (HHH) syndrome, to the best of our knowledge, we are presenting the third and the oldest Aboriginal patient with HHH syndrome.Our patient, a 34-year-old male of Métis descent, with chronic cognitive dysfunction, presented with acute inappropriate behavior and recurrent hostility.Previously, he was healthy with no seizure or vascular risk factor.He complained of an inability to "think right" and impaired concentration.On assessment, his vital signs were normal.He was alert, moderately cooperative, and his language was normal.Motor examination including muscle tone was normal.Deep tendon reflexes were brisk and left plantar response was extensor.Sensation, coordination, and gait were normal.There was no meningismus or asterixis.During the first week in the hospital, the patient had episodes of aggression and disorientation requiring physical restraint occurred.The episodes were refractory to quetiapine and occurred in the evenings.During the day, he was calm and oriented.On reassessment, his Montreal Cognitive Assessment score was 12/30, visuospatial skills were impaired (Figure 1A), deep tendon reflexes were brisk, plantar responses were extensor, coordination was impaired, and gait was unsteady.Subsequently, he became unconscious with intermittent colonic movements of the extremities that were treated with intravenous lorazepam and phenytoin load.Blood work was normal on admission, which included complete blood count, electrolytes, Ca 2 + , Mg 2 + , Po 4 2 + , glucose, creatine kinase, liver enzymes, and bilirubin.Further investigation showed negative vasculitis panel (antinuclear antibody, antineutrophil cytoplasmic antibody, extractable nuclear antigen, rheumatoid factor, and C-reactive protein) and thrombophilia workup, negative urine toxicology on several occasions, hypodensities in the right frontal lobe on cranial computed tomography scan, slow electroencephalogram background, negative cerebrospinal fluid, including polymerase chain reaction for herpes simplex virus.His brain magnetic resonance imaging (MRI) was suspicious for acute demyelinating encephalomyelitis or vasculitis (Figure 2A).The vasculitis workup, hepatitis panel, Venereal Disease Research Laboratory, and HIV tests were all negative.Repeated brain MRI revealed infarcts in the cingulate and insular cortices bilaterally (Figure 2B).Magnetic resonance angiogram and stroke workup including 24-hour Holter monitoring were negative.Left ventricular ejection fraction was decreased (45% to 50%) on echocardiogram.A repeated electroencephalogram taken while the patient was comatose showed diffuse slowing with no epileptiform discharges or triphasic waves.Arterial blood gas showed respiratory alkalosis (pH: 7.47 [7.38-7.46];bicarbonate: 24 mmol/L [21-28]; partial pressure of carbon dioxide: low at 33 mmHg [35-48], partial pressure of oxygen: 91 mmHg), and blood ammonia level was markedly elevated at 291 µmol/L.Homocysteine was high at 25.97 μM/L (3-15).The results

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