[P1-77] Symptomatic epilepsy with chromosome aberration： report of two cases
Introduction: Symptomatic epilepsy is among the most important complications in patients with chromosome aberrations, because managing epilepsy with certain anti-epileptic drugs is difficult. Furthermore, such patients may have atypical, symptoms of epilepsy, making it difficult to distinguish between epileptic and non-epileptic disorders. We report two patients with chromosome aberrations and symptomatic epilepsy.
Methodology: We studied two patients with different chromosome aberrations in terms of background features, epilepsy symptoms, and treatments.
Results: Patient 1, a 7-year-old boy, had been born a low birth weight infant (LBWI) at term. He had multiple anomalies, with severe motor dysfunction and mental retardation. At age 3 years, he presented with frequent apnea. He was evaluated by EEG, and diagnosed with symptomatic epilepsy. He was administered anti-epileptic drugs.
Patient 2, a 2-year-old boy, was also born a LBWI with respiratory failure, characteristic face, and multiple other anomalies. At age 1 year, he showed frequent sudden severe desaturations. Initially, these desaturations were controlled by oxygen therapy, but did not resolve. The desaturations were subsequently assumed to be an epileptic symptom, and anti-epileptic drugs were started.
Conclusions: We experienced two patients with different chromosome aberrations and the complication of symptomatic epilepsy. Symptoms in those patients were unusual, and thus not easily identified as epileptic symptoms. It is therefore important to follow the daily conditions of these patients carefully.
Methodology: We studied two patients with different chromosome aberrations in terms of background features, epilepsy symptoms, and treatments.
Results: Patient 1, a 7-year-old boy, had been born a low birth weight infant (LBWI) at term. He had multiple anomalies, with severe motor dysfunction and mental retardation. At age 3 years, he presented with frequent apnea. He was evaluated by EEG, and diagnosed with symptomatic epilepsy. He was administered anti-epileptic drugs.
Patient 2, a 2-year-old boy, was also born a LBWI with respiratory failure, characteristic face, and multiple other anomalies. At age 1 year, he showed frequent sudden severe desaturations. Initially, these desaturations were controlled by oxygen therapy, but did not resolve. The desaturations were subsequently assumed to be an epileptic symptom, and anti-epileptic drugs were started.
Conclusions: We experienced two patients with different chromosome aberrations and the complication of symptomatic epilepsy. Symptoms in those patients were unusual, and thus not easily identified as epileptic symptoms. It is therefore important to follow the daily conditions of these patients carefully.