Abstracts

Rationale: Early infantile epileptic encephalopathy with suppression bursts (EIEE) or Ohtahara syndrome is a rare cause of intractable cryptogenic epilepsy. Dystrophin deficiency is rare in cases of congenital myopathy and has not previously been associated with cryptogenic EIEE. Methods: We report a full term girl who presented with severe hypotonia at birth and seizures at day 2 of life. Seizures were characterized by tonic spasms lasting 5 to 10 seconds and frequently accompanies by transient respiratory failure. Spasms occurred in clusters and appeared induced by photic stimulation or other stimuli. Dyspphagia remained a problem even after seizures improved with polypharmacy. Dysplasia survey was negative. Neuroimaging studies were normal. Extensive metabolic studies were negative. Interictal EEG showed a typical suppression-burst pattern and ictal EEG was characterized by a lateralized alpha-like activity followed by irregular polysharp slow waves. A muscle biopsy was performed.Results: Histopathological changes within muscle biopsy specimen confirmed a congenital myopathy with diffuse dystrophin deficiency as demonstrated by immuno-chemical staining. Merosine immuno-chemical staining was not decreased. Conclusions: We postulate that a neonatal diminished expression of dystrophin can lead to enhanced seizure susceptibility and contribute to epileptogenesis. Dystrophin deficiency should be investigated in patients with Ohtahara syndrome without structural brain pathology.