1p36 Deletion syndrome Presenting with Various Epileptic Semiologies

본 저자들은 생후 1개월부터 발생한 여러 유형의 발작, 삼킴장애, 발달지연, 소두증 및 형태학적 이상을 보인 남아에서 비교유전체 보합법(array comparative genomic hybridization)을 통하여 1p36 결실증후군을 진단한 예를 경험하였기에 보고하는 바이다.

1p36 deletion syndrome is the most common telomeric microdeletion syndrome. It is related to various clinical features including neurodevelopmental impairment, seizure, growth retardation, and heart defects. It is also known to have several morphologic features, including deep-set eyes, flat nasal bridge, straight eyebrows and pointed chin. Seizure is common in 1p36 deletion syndrome and its type and natural course is variable. Control of seizure with antiepileptic drugs is variable; however, seizure improves with time in majority of cases. We report a patient presenting with various types of seizure, developmental delay, and morphological abnormality. The patient developed complex partial seizure, infantile spasm, and myoclonic seizure, at the age of 1, 4, and 12 months, respectively. The patient was diagnosed as 1p36 deletion syndrome using array comparative genomic hybridization. At the age of 15 months, seizure disappeared and development began to progress.