Neuropediatrics 2012; 43 - PS19_06
DOI: 10.1055/s-0032-1307153

FIRES (febrile infection-related epilepsy syndrome) partially responsive to magnesium and dextromethorphan treatment

M Häusler 1, M Schoberer 1, A van Baalen 2, J Weis 3, T Orlikowsky 1, B Schmitt 4, G Kluger 5, T Opladen 6, B Czermin 7, S Rudnik-Schöneborn 8, K Nolte 3
  • 1Kinder- und Jugendmedizin, UK/RWTH Aachen, Aachen, Germany
  • 2Neuropädiatrie, Uniklinik Kiel, Kiel, Germany
  • 3Institut für Neuropathologie, UK Aachen, Aachen, Germany
  • 4Clin. Neurophysiology, University Children's Hospital, Zürich, Switzerland
  • 5Schön Klinik Vogtareuth, Vogtareuth, Germany
  • 6Zentr. für Kinder- und Jugendmedizin, Uniklinik Heidelberg, Heidelberg, Germany
  • 7MGZ München, München, Germany
  • 8Inst. für Humangenetik, UK/RWTH Aachen, Aachen, Germany

Aims: FIRES (Febrile infection-related epilepsy syndrome) is a severe epilepsy syndrome of unknown etiology, frequently nonresponsive to antiepileptic drugs. New treatment options are necessary.

Methods: We report on a girl with FIRES, including clinical details on treatment with magnesium (Mg) and dextromethorphan (DMP), two NMDA receptor antagonists.

Results: Following an upper respiratory tract infection, this previously healthy 3-year-old girl developed generalized tonic-clonic and multifocal myoclonic seizures, corresponding to multifocal spikes on EEG, that did not respond to antiepileptics (phenobarbital, midazolam, phenytoin, topiramate, levetiracetam, lacosamide, thiopental (burst suppression), ketogenic diet). 17 days after disease onset, intravenous Mg was initiated (serum concentrations: 3–4mmol/l). After 10 days of improvement, the seizures and EEG findings worsened again. Two months after disease onset, after starting oral DMP the seizures disappeared and the EEG improved. Decreasing DMP after 7 weeks resulted in a clinical relapse so that DMP was continued. Early after admission the girl became unconscious, later she developed tetraspasticity. Frequently an increase of body temperature was associated with increased seizure activity. Brain MRI revealed an occipital stroke, progressive brain atrophy, white matter lesions and a small lactate peak on MR spectroscopy. Metabolic studies on cerebrospinal fluid were in line with neuronal hyperexcitation. A search for infections and autoimmune disorders proved negative. After five months she died from peracute pulmonary failure. Brain histopathology was in line with a metabolic disease, showing extensive laminar cortical necrosis without infectious agents. Sequencing of the POLG1 and SCN1A genes proved negative.

Conclusion: FIRES remains a clinical challenge. Whereas a metabolic disturbance seems likely, its etiology remains unknown. Similar to single case reports on further severe epilepsies, application of the NMDA receptor antagonists Mg and DMP can be considered in catastrophic FIRES patients.

FIRES - dextromethorphan - magnesium - status epilepticus - epilepsia partialis continua