Neuropediatrics 2015; 46 - VS01-02
DOI: 10.1055/s-0035-1550747

Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

M. Bachmann 1, U. Albrecht 1, M. Baumann 1, S. Baumgartner Sigl 1, S. Scholl-Bürgi 1, D. Karall 1, K. Rostasy 2, E. Haberlandt 1
  • 1Department für Kinder und Jugendheilkunde, Innsbruck, Austria
  • 2Witten/Herdecke University, Children's Hospital Datteln, Datteln, Germany

Case Study: Polymerase gamma (POLG) mutation leads to a mitochondrial disease, resulting in epilepsy, movement disorders, cognitive impairment, and liver dysfunction. Usually, clinical symptoms commence in early childhood, later manifestation is also possible. Here, we present a patient with POLG mutation and rapid progression.

A previously healthy 16-year-old girl presented with migraine-type headache. Within the visit, a secondary generalized seizure is obvious. Cerebral MRI (cMRI) showed decreased diffusion on the right occipital lobe, EEG presented focal slowing. Later on, the patient experienced an intractable focal status epilepticus. Therefore, she was admitted to the intensive care unit. Therapy with levetiracetam, phenytoin, lorazepam, cortisone, valproate, and lacosamide could not interrupt focal status epilepticus.

Because of ascending tetraparesis and suspicion of Guillain–Barré syndrome intravenous immunoglobulins were administered without improvement. Finally, mitochondrial DNA analysis revealed POLG mutation.

cMRI showed alternating areas of decreased diffusion, EEG abnormalities were persistent with focal slowing and superimposed epileptic spikes as typical for POLG mutations. Only treatment with midazolam-ketamine narcosis could stop the focal status epilepticus.

A few days later she developed again focal status epilepticus, despite ongoing therapy with levetiracetam, topiramate, and phenytoin, as well as ketogenic diet. Under treatment with thiopental narcosis seizures improved only short-term. In the further course, she showed focal seizures under intensive antiepileptic therapy (levetiracetam, phenobarbital, midazolam, phenytoin, topiramat, and cortisone), magnesium infusion, ketogenic diet and riboflavin, coenzymeQ10, and thiamine. Her condition worsened as she developed generalized myoclonus, leading to death 3 months after presenting with initial symptoms.

This case shows the atypical clinical signs at the beginning and limited therapeutic options for POLG mutation.

Keywords: POLG mutation, focal status epilepticus.