Williams 증후군 환아의 연령에 따른 임상적 특징
Clinical Characteristics of Children with Williams Syndrome According to Age
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목 적:Williams 증후군은 염색체 7q11.23의 유전자 결실로 인한 상염색체 우성으로 유전되는 질환으로 특징적인 얼굴 생김새와 선천성 심장 질환 및 정신지체를 보이지만 연령에 따라 나타나는 증세가 달라 진단에 어려움이 있다. 저자들은 환아들의 연령변화에 따른 임상적, 정서적, 행동발달적 특징을 알아보고자 하였다. 방 법:03년 3월부터 09년 2월까지 국민건강보험공단 일산병원 발달지연 클리닉에 내원한 환자 중 Williams 증후군으로 확진 받은 9명의 환아들을 연령별로 3개 그룹(영아기, 학령전기, 학령기)으로 나누었다. 그룹별로 환아들의 얼굴생김새의 특징, 운동 및 언어 발달 정도, 인지발달 정도와 동반 증세를 후향적으로 비교 분석하였다. 결 과:영아기 환아들의 주 증상은 섭식장애, 근긴장도 저하, 변비 및 수면장애, 탈장 등 이었으며 얼굴 생김새는 특징적이지 않았다. 학령전기에는 모두 발달지연을 보였고 매우 사교적인 성격을 지니며 소리에 예민하였다. 특징적인 얼굴 생김새로 긴 인중, 두드러진 입술, 부정교합을 보였다. 학령기에는 모두 정신지체, 학습부진을 보였고 특징적인 얼굴 생김새와 저신장증을 보였다. 성격은 매우 사교적이나 학교 생활에는 적응하지 못하였다. 총 9명 중 8명에서 선천성 심장질환이 있었다. 결 론:영아에서 잘 빨지 못하고 근긴장도 저하를 보이면서 선천성 심장질환을 가지며 때로 고칼슘혈증이 동반되면 Williams 증후군을 의심할 수 있다. 학령전기 아동에서 발달이 느리지만 언어 능력은 잘 유지되며 소리에 예민한 모습을 보이면 Williams 증후군을 의심할 수 있다. 학령기 및 청소년기 아동에서 저신장증과 함께 학습에 어려움을 겪고, 성격은 사교적이나 학교생활에 적응하지 못하면서 특징적인 얼굴모습이 두드러지면 Williams 증후군을 의심할 수 있다.
Abstract
Purpose:Williams syndrome (WS) is an autosomal dominant genetic disorder, caused by deletion at chromosome 7q11.23. Although WS is characterized by congenital heart disease (CHD), mental retardation, and distinctive facial dysmorphism, clinical features may vary according to a patient's age, making the diagnosis more difficult. We reviewed clinical, psychosocial, and behavioral developmental manifestations of WS patients according to age. Methods:We retrospectively studied nine children with WS from March 2003 to February 2009 at NHIC Ilsan Hospital Developmental Disorder Clinic. Patients were divided into three groups by age: infancy, preschool age and school age. Patients' facial dysmorphism, motor, speech, and cognitive development and associated symptoms were analyzed. Results:Prominent clinical features of the infants group were feeding difficulty, hypotonia, constipation, sleep disturbance, hernia with facial features which were not characteristic. The preschool age group showed developmental delays, had very friendly personalities, and hyperacusis. Their typical facial features included long philtrum, prominent lips, and teeth malocclusion. The school age group showed mental retardation, learning disorders, and typical facial dysmorphism, as well as short stature. Although overly sociable, they were not able to adapt to school life. Eight patients out of nine showed CHD. Conclusion:WS can be suspected when an infant primarily presents with hypotonia, feeding difficulty, failure to thrive with CHD, and occasional hypercalcemia. When a patient in early childhood presents with delayed development with good verbal language ability and has hyperacusis, WS must be suspected. When an older or adolescent child has unique learning disabilities and has facial dysmorphism, short stature, and a loquacious personality, WS should also be suspected.
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