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Trimethylaminuria associated with seizures and behavioural disturbance: a case report
H W McConnell1, S C Mitchell, R L Smith
1Centre for Epilepsy, Maudsley Hospital, London, UK.
Abstract:
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.
Insights
Trimethylaminuria, a metabolic disorder causing a fish-like odor, was linked to complex-partial seizures and behavioral issues in a teen. A choline-restricted diet resolved these symptoms, suggesting a direct link between the condition and neurological/psychiatric disturbances.
Area of Science:
- Neurology
- Metabolic Disorders
- Psychiatry
Background:
- Trimethylaminuria (TMAU) is a rare metabolic disorder.
- Characterized by the inability to metabolize trimethylamine (TMA), leading to its accumulation.
- TMA is associated with a distinct fish-like body odor.
Observation:
- A 16-year-old male presented with complex-partial seizures and behavioral disturbances.
- Symptoms included agitation, affective symptoms, hallucinations, and delusions, occurring with a fish-like odor.
- Seizures began at 18 months of age and occurred in discrete episodes.
Findings:
- Urinary assay confirmed elevated trimethylamine (TMA), diagnosing trimethylaminuria.
- The patient's neurological and psychiatric symptoms were temporally related to the odor episodes.
- A choline-restricted diet led to the complete resolution of seizures and behavioral disturbances.
Implications:
- This case suggests a potential link between trimethylaminuria and the manifestation of seizures and psychiatric disorders.
- Highlights the importance of considering metabolic disorders in the differential diagnosis of unexplained neurological and psychiatric symptoms.
- Emphasizes the efficacy of dietary management in ameliorating complex symptoms associated with trimethylaminuria.