안면기형 없는 경한 임상증상을 보인 14번 환상염색체 증후군 1례

Ring Chromosome 14 Manifesting as Mild Clinical Features without Facial Sysmorphsim

14번 환상염색체 증후군의 임상적 특징은 두개 안면 기형, 정신운동 지연 및 뇌전증으로 알려져 있다. 정신운동 지연은 대부분 의사소통이 불가능할 정도의 심한 언어지연을 동반하며, 경련발작은 약물 난치성인 경우가 흔하다. 저자는 소두증을 제외한 안면이형성증이 없고 적절한 약물치료와 조기 재활치료의 개입으로 양호한 예후를 보이는 14번 환상염색체 증후군 증례를 보고하고자 한다.

The characteristic features of ring chromosome 14 syndrome are microcephaly, facial dysmorphism, ocular abnormalities, psychomotor retardation, and drug-resistant epilepsy. Here, we report the case of a 2-year-old girl, diagnosed with ring 14 syndrome with mild clinical features. The child had microcephaly without facial dysmorphism, a slight language delay, and well-controlled seizures with a favorable progress. Her first seizure occurred at the age of 4 months and she has been seizure-free for 12 months since turning 3 years old. She exhibited only a mild language delay, which is still improving. It is important to note that ring chromosome 14 may manifest as early onset seizures with mild psychomotor delay, but without facial dysmorphism. These patients may follow a favorable clinical course.