Mesial Temporal Lobe Epilepsy in a Patient with Peutz-Jeghers Syndrome

Abstract

PeutzJeghers syndrome (PJS) is a rare disease characterized by intestinal polyposis and mucocutaneous pigmentation. Central nervous system manifestations of this disease are not yet fully known. A 14yearold girl with PJS visited clinic after experiencing the first unprovoked seizure. She experienced impairment of consciousness after an epigastric sensation followed by a generalized seizure for about 2 minutes. She had undergone small bowel segment resection because of the small bowel intussusception caused by small intestinal polyposis at the age of 5. She was diagnosed with PJS on the basis of presence of melanoic pigmented lip and multiple hamartomatous polyps in gastrointestinal tracts. The electroencephalography showed occasional sharp wave discharges on the right temporoparietal areas. After her second seizure, she was diagnosed with focal epilepsy and began to receive anticonvulsants. With anticonvulsants, her seizures had been controlled for 3 years. However, when the anticonvulsants were discontinued, her seizures recurred after 6 months and persisted. The brain magnetic resonance imaging showed asymmetrical atrophy of the right hippocampus. The final diagnosis was the mesial temporal lobe epilepsy with right hippocampal sclerosis. Currently, seizures are not controlled completely with anticonvulsants, and surgical treatment is being taken into consideration. Mesial temporal lobe epilepsy might be considered one of central nervous system manifestations in PJS.