Allan-Herndon-Dudley Syndrome 환아에서 발견된 novel c.826G>A Mutation

• 영문명: A Novel c.826G>A Mutation in a Boy with AllanHerndon-Dudley Syndrome: Clinical Significance of Thyroid Function Tests in Developmental Delay of Unknown Origin
• 발행기관: 대한소아신경학회
• 저자명: 신은경(Eun-Kyung Shin) 박병한(Byung Han Park) 문진화(JinHwa Moon) 김자혜(Ja Hye Kim) 유한욱(Han-Wook Yoo) 김구환(Gu-Hwan Kim)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제25권 제3호, 195~199쪽, 전체 5쪽
• 주제분류: 의약학 > 소아과학
• 파일형태: PDF
• 발행일자: 2017.07.30

영문 초록

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability caused by monocarboxylate transporter 8 (MCT8) deficiency. AHDS manifests in global developmental delay, axial hypotonia, quadriplegia, movement disorders in male patients, and most of them show the delayed or hypomyelination on brain magnetic resonance images. Typically, Triiodothyronine (T3) levels are markedly elevated, thyroid stimulating hormone (TSH) levels are normal or elevated, and free thyroxine (T4) levels are normal or decreased. In AHDS patients, early neurological manifestations are easily mistaken as cerebral palsy with unknown origin. Here, we present a novel c.826G>A mutation in a boy with severe axial hypotonia, limb dystonia and developmental delay. Thyroid function test including TSH, T3, and free T4 levels was the important clue for the diagnosis of AHDS of the patient.

키워드

Allan-Herndon-Dudley Syndrome monocarboxylate transporter 8 (MCT8) neurodevelopmental delay movement disorders thyroid hormone transporters