167 132

A Novel c.826G˃A Mutation in a Boy with Allan-Herndon-Dudley Syndrome: Clinical Significance of Thyroid Function Tests in Developmental Delay of Unknown Origin

Title
A Novel c.826G˃A Mutation in a Boy with Allan-Herndon-Dudley Syndrome: Clinical Significance of Thyroid Function Tests in Developmental Delay of Unknown Origin
Other Titles
Allan-Herndon-Dudley Syndrome 환아에서 발견된 novel c.826G>A Mutation
Author
문진화
Keywords
Allan-Herndon-Dudley Syndrome; monocarboxylate transporter 8 (MCT8); neurodevelopmental delay; movement disorders; thyroid hormone; transporters
Issue Date
2017-09
Publisher
대한소아신경학회
Citation
대한소아신경학회지, v. 25, no. 3, page. 195-199
Abstract
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.Allan-Herndon-Dudley syndrome (AHDS)은 monocarboxylate transporter 8 (MCT8)의 결핍으로 인하여 발생하는 X-연관성 지적지연 질환이다. AHDS은 전반적 발달지연, 신체 중심축의저긴장증, 사지마비. 운동이상 등을 주 증상으로 나타내며 대부분의경우 뇌 자기공명영상검사에서 지연된 수초화 또는 저수초화를 보인다. 검사소견에서 전형적으로 Triiodothyronine (T3)의 현저한 증가, thyroid stimulating hormone (TSH)의 정상 또는 증가, free thyroxine (T4)의 정상 또는 감소 소견을 보인다. AHDS 환자들에서관찰되는 초기 신경학적 이상들은 흔히 원인불명의 뇌성마비나 저긴장도를 나타내는 뇌질환으로 오인되기 쉽다. 본 저자들은 심한 중심축성 저긴장증, 사지의 근긴장이상, 그리고 발달지연을 주소로 내원한남아에서 새로 발견된 c.826G>A 돌연변이로 인한 AHDS 1례를 보고하고자 한다. T3, TSH, freeT4를 포함하는 갑상선호르몬 검사는 이환자를 AHDS 로 진단하는 것에 중요한 단서가 되었다.
URI
https://www.annchildneurol.org/journal/view.php?doi=10.26815/jkcns.2017.25.3.195https://repository.hanyang.ac.kr/handle/20.500.11754/115424
ISSN
1226-6884; 2383-8973
DOI
10.26815/jkcns.2017.25.3.195
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
Files in This Item:
A Novel c.826G˃A Mutation in a Boy with Allan-Herndon-Dudley Syndrome Clinical Significance of Thyroid Function Tests in Developmental Delay of Unk...Download
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE