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Furujo M, Kinoshita M, Ichiba Y, et al. Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency. Epilepsy Behav Case Rep. 2014;2:37-9doi: 10.1016/j.ebcr.2014.01.007.
Furujo, M., Kinoshita, M., Ichiba, Y., Romstad, A., Shintaku, H., & Kubo, T. (2014). Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency. Epilepsy & behavior case reports, 237-9. https://doi.org/10.1016/j.ebcr.2014.01.007
Furujo, Mahoko, et al. "Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency." Epilepsy & behavior case reports vol. 2 (2014): 37-9. doi: https://doi.org/10.1016/j.ebcr.2014.01.007
Furujo M, Kinoshita M, Ichiba Y, Romstad A, Shintaku H, Kubo T. Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency. Epilepsy Behav Case Rep. 2014 Mar 13;2:37-9. doi: 10.1016/j.ebcr.2014.01.007. eCollection 2014. PMID: 25667865; PMCID: PMC4308063.
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Epilepsy Behav Case Rep. 2014 Mar 13;2:37-9. doi: 10.1016/j.ebcr.2014.01.007. eCollection 2014.

Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency.

Epilepsy & behavior case reports

Mahoko Furujo, Masako Kinoshita, Yozo Ichiba, Anne Romstad, Haruo Shintaku, Toshihide Kubo

Affiliations

  1. Department of Pediatrics, Okayama Medical Center, National Hospital Organization, Okayama, Japan.
  2. Department of Neurology, Utano National Hospital, National Hospital Organization, Kyoto, Japan.
  3. Department of Health, Okayama Institute of Health Foundation, Okayama, Japan.
  4. Department of Inherited Metabolic Diseases and Molecular Genetics, the John F. Kennedy Institute, Glostrup, Denmark.
  5. Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.

PMID: 25667865 PMCID: PMC4308063 DOI: 10.1016/j.ebcr.2014.01.007

Abstract

We assessed the clinical characteristics and efficacy of neurotransmitters and levetiracetam in a patient with hyperphenylalaninemia due to dihydropteridine reductase (DHPR) deficiency who developed epileptic seizures. A boy with DHPR deficiency, who had been successfully treated with tetrahydrobiopterin (BH4), levodopa, and 5-hydroxytryptophan (5-HTP) since he was 2 months old, started having monthly episodes of blurred vision, loss of consciousness, and falls at the age of 12 years. He was taking BH4 510 mg/day, levodopa 670 mg/day, 5-HTP 670 mg/day, and entacapone 300 mg/day. We evaluated the seizure semiology, EEG findings, and efficacy of levodopa, 5-HTP, and levetiracetam (LEV). His seizures were comprised of an abrupt loss of awareness and eye deviation to the right. Interictal EEG showed slightly slow posterior-dominant rhythm in 7-8 Hz; intermittent, irregular slowing in the bilateral parieto-occipital region; and multiregional independent spikes in bilateral hemispheres. Ictal EEG showed a seizure pattern starting at the left temporal region. Brain MRI showed diffuse signal increase of deep white matter on T2-weighted and FLAIR images. Dosage increase of levodopa to 1340 mg/day, of 5-HTP to 1500 mg/day, or of both did not suppress seizures. Levetiracetam 2000 mg/day markedly reduced seizures without any adverse events. Patients with DHPR deficiency can develop epileptic seizures of partial onset which can be successfully and safely treated with LEV.

Keywords: 5-Hydroxytryptophan; Dihydropteridine reductase deficiency; Epileptic seizures; Levetiracetam; Levodopa

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