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Open Access Case report

Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes

Alessandro Di Rocco17*, Andrea Loggini2, Maja Di Rocco3, Pietro Di Rocco4, Roger P Rossi15, Giorgio Gimelli3 and Carl Bazil6

Author Affiliations

1 New York University School of Medicine, New York, NY, USA

2 University of Genoa School of Medicine, Genoa, Italy

3 Giannina Gaslini Institute, Genoa, Italy

4 Formerly Giannina Gaslini Institute, Genoa, Italy

5 Robert Wood Johnson School of Medicine and Johnson Rehabilitation Institute, Edison, NJ, USA

6 Columbia University College of Physicians and Surgeons, New York, NY, USA

7 Department of Neurology, NYU Langone Medical Center, New York University School of Medicine, 145 E 32nd Street, New York, NY 10016, USA

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BMC Neurology 2013, 13:43  doi:10.1186/1471-2377-13-43

Published: 10 May 2013

Abstract

Background

Isodicentric 15 syndrome (IDIC-15) is due to partial duplications of chromosome 15 that may includes the q11–13 region that includes genes encoding the α5 (GABRA5) and β3 - γ3 (GABRB3) receptor subunits. The disease causes intellectual and physical developmental delay, seizures, intellectual disability and behavioral disorders that may be related to abnormal GABA receptor function and morphology. Seizures are often severe and may be refractory to treatment. There are however no specific guidelines for the treatment of the seizures and it is unknown whether drugs that affect the GABAergic system have a different effect in IDIC-15 seizures.

Case presentation

We report the case of an adult individual with IDIC-15 whose complex-partial seizures worsened dramatically after the introduction of pregabalin, with increased seizure frequency, frequent generalization, and appearance of new seizure pattern. Her cognitive function and verbal skills also worsened during treatment with pregabalin. Her seizures and cognitive skills quickly improved after pregabalin was discontinued and treatment with lacosamide started.

Conclusion

As her genetic testing confirmed that her region of duplication included GABA receptor encoding genes, it is plausible that the worsening of seizures were due to induction of an abnormal GABAergic response to pregabalin.This case may help define proper therapeutic strategies for the treatment of IDIC-15 associated seizures.

Keywords:
IDIC-15; GABA receptors; Pregabalin; Seizures; Lacosamide