J Pediatr Genet 2019; 08(04): 222-225
DOI: 10.1055/s-0039-1685501
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

Jessika Johannsen
1  Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Tatjana Bierhals
2  Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Philipp Deindl
1  Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Laura Hecher
1  Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Katharina Hermann
1  Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Maja Hempel
2  Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Katja Kloth
2  Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Jonas Denecke
1  Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
› Author Affiliations
Funding None.
Further Information

Publication History

25 December 2018

11 March 2019

Publication Date:
20 April 2019 (online)

Abstract

Recently, mutations in the PLPBP gene were described as a novel cause for vitamin B6-responsive epilepsy. We report the outcome in case of a male adolescent with a novel homozygous missense variant in PLPBP who was never treated with pyridoxine until the age of 16 years. He presented with only mild cognitive impairment and an early-onset, well-controlled epilepsy. In our patient, excessive seizure clusters and anxiety states occurred intermittently, suggesting that the combination might be a hallmark in untreated patients. Thus, mutations in PLPBP should be addressed even in adolescent patients with only mild learning disabilities and relatively good seizure control over the years.

Author's Contributions

J.J. collected the clinical data and drafted the article. P.D., L.H., and K.H. also collected clinical data. T.B., M.H., and K.K. performed genetic analyses. All authors interpreted the data in the clinical context. T.B., P.D., K.H., K.K., and J.D. revised the manuscript.