Hyperphenylalaninemia in infants and children may be caused by a deficiency of dihydropteridine reductase (DHPR). Recommended therapy includes folinic acid as a source of tetrahydrofolate, a phenylalanine-restricted diet, and both dopamine and serotonin precursors. We report a child with progressive basal ganglia and other subcortical calcifications prior to the use of folinic acid. Six other reported cases of DHPR deficiency demonstrated similar calcifications prior to folinic acid therapy. Since this pattern of calcification also resembles that seen in CNS folate deficiency caused by both congenital folate deficiency and that which is methotrexate-induced, we propose that intracranial calcification in DHPR deficiency is caused by inadequate CNS tetrahydrofolate and may be prevented by the use of folinic acid. Our patient achieved excellent seizure control following the use of folinic acid, suggesting either a direct or indirect anticonvulsant effect of this compound in patients with DHPR deficiency.

Cyclotrimethylenetrinitramine (RDX) is a highly explosive compound frequently used for both military and civilian purposes. Previously reported cases of human RDX intoxication were limited to wartime settings and have described no human pharmacokinetic data. We report the first human intoxication to occur in a non-wartime setting. This intoxication presented with status epilepticus in a child and permitted the description of RDX human pharmacokinetics. It also suggested a strong association between central nervous system dysfunction and RDX intoxication.

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A 16-year-old left-handed male is presented with a history of seizures associated with a fish-like odour and behavioural disturbances thought to be related to trimethylaminuria. His seizures were complex-partial (cursive) seizures and started at the age of 18 months. They occurred in the context of discrete episodes several times per year. The episodes would start with a fish-like odour, followed by seizures occurring in clusters and behavioural disturbance consisting of agitation, mixed affective symptoms, auditory hallucinations and delusions. A urinary assay of trimethylamine (TMA) was elevated, confirming the diagnosis of trimethylaminuria in this patient. He was treated with a choline-restricted diet with resolution of his symptoms. The occurrence of seizures and psychiatric disturbance in this patient was thought secondary to his trimethylaminuria due to the temporal relationship of his seizures and psychiatric disturbance with the odour and his response to treatment. The possible relationship of trimethylaminuria to seizures and to psychiatric disturbance are discussed and a review of the literature presented.