# Ataxia and Seizures despite Phenytoin: A Case Report Highlighting the Importance of TDM and Genetic Influences

**Authors:** Rachel Manoj, Arpita Meher, Jefry Winner G.

PMC · DOI: 10.1155/2024/2888895 · Case Reports in Neurological Medicine · 2024-03-20

## TL;DR

A patient experienced adverse effects from phenytoin, highlighting the importance of drug monitoring and genetic factors in treatment.

## Contribution

This case emphasizes the role of therapeutic drug monitoring and genetic influences in managing phenytoin therapy.

## Key findings

- The patient showed toxicity despite standard phenytoin dosage, with elevated drug levels detected via TDM.
- Genetic factors like CYP2C9 polymorphisms were identified as potentially significant but could not be tested.
- Switching to valproate led to the patient's recovery, suggesting alternative treatments may be necessary.

## Abstract

Adverse drug reactions to commonly prescribed medications such as phenytoin, used for seizures, often go undetected due to various factors. This case report highlights a 52-year-old male diagnosed with late-onset epilepsy who was prescribed phenytoin. Despite the standard dosage, the patient experienced toxicity symptoms and a seizure, prompting admission for assessment. Laboratory tests and imaging were inconclusive, leading to a therapeutic drug monitoring (TDM) consultation, which revealed elevated phenytoin levels. Genetic testing for CYP2C9 polymorphisms was not feasible but noted as significant, especially in populations with higher prevalence. Phenytoin was tapered, leading to the patient's gradual recovery upon discontinuation and transition to valproate. The Naranjo scale predicted potential adverse drug responses (ADRs). This case underscores the significance of TDM, genetic considerations in drug metabolism, and the need to be vigilant in treating epilepsy to prevent such adverse events.

## Linked entities

- **Chemicals:** phenytoin (PubChem CID 1775), valproate (PubChem CID 3549980)
- **Diseases:** epilepsy (MONDO:0005027)

## Full-text entities

- **Genes:** CYP2C9 (cytochrome P450 family 2 subfamily C member 9) [NCBI Gene 1559] {aka CPC9, CYP2C, CYP2C10, CYPIIC9, P450-2C9, P450IIC9}
- **Diseases:** Seizures (MESH:D012640), epilepsy (MESH:D004827), toxicity (MESH:D064420), Ataxia (MESH:D001259)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

8 references — full list in the complete paper: https://tomesphere.com/paper/PMC10977159/full.md

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Source: https://tomesphere.com/paper/PMC10977159