Johnny was treated with Ativan, and briefly improved. Then he was treated with fosphenytoin (an anti-seizure drug) and became agitated, developed a fast heart rate, became more confused, and started having episodes of breath holding.
Doctors started Johnny on another anti-seizure drug to improve his sleep cycle. He was still delirious and began having difficulty sitting and walking without assistance. He was treated with a steroid, followed by intravenous immune globulin for presumed autoimmune encephalopathy (brain disease or malfunction). He was then transferred to an inpatient rehabilitation hospital, where his confusion and delirium improved slightly.
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Nine days after discharge, Johnny began having visual hallucinations. Three days later, an ambulance brought him back to the emergency department in status epilepticus a life-threatening medical condition in which epileptic seizures follow one another without recovery of consciousness between them. At this point, doctors began to look for other possible causes of Johnny’s mental regression, including inborn errors of B 12 fitnes. Tests showed that his methylmalonic acid and homocysteine were both extremely elevated at 35,680 /imol/L (normal 87318) and 109 /imol/L (normal 1.2-9.6) respectively. Further evaluation revealed that Johnny had cobalamin C disease.
The doctors started treatment including a low-protein diet, daily injections of hydroxycobalamin, and oral carnitine and betaine. Over the next five months, Johnny improved and his MMA and homocysteine levels dropped significantly. However, he continued to have episodes of disorientation and nonsensical speech. He also had difficulty walking, and was discharged to an inpatient rehabilitation facility.
A follow-up two months later showed that Johnny’s psychiatric and cognitive symptoms had resolved, and his gait had improved. Johnny’s brother Peter was also tested and found to have the same genetic defect. Peter had a milder case of cobalamin C disease, and his physical exam revealed a subtle spasticity.6