Table of Contents

HK J Paediatr (New Series)
Vol 23. No. 4, 2018

HK J Paediatr (New Series) 2018;23:302-304

Case Report

Neonate with Congenital Myotonic Dystrophy Conceived via In Vitro Fertilisation by an Asymptomatic Mother
先天性強直性肌營養不良新生兒1例(新生兒為試管嬰兒,母親無臨床症狀)

BN Kim, YT Lee, IG Lee, JY Han


Abstract

Congenital myotonic dystrophy 1 (CDM1) is characterised by severe hypotonia with difficulty in swallowing and respiration, facial diplegia, and increased risk of prematurity. We report a neonate with CDM1 born to an asymptomatic mother after in vitro fertilisation. Molecular analysis for the cytosine-thymine-guanine (CTG) triplet related DM1 was carried out and revealed over 1,000 CTG repeats, which was consistent with the clinical impression of CDM1. Gene analysis was carried out on the proband's family. In this family, the expanded CTG repeats were transmitted maternally, and earlier age of onset and increasing severity of the disease occurred in following generations.

先天性強直性肌營養不良1型(CDM1)的臨床特點包括:嚴重的肌張力低下,常伴有吞咽和呼吸困難,以及面癱、早產風險高;我們報導了一例患有CDM1的新生兒,其為IVF,且其母無臨床症狀。我們對其進行了與強直性肌營養不良相關的CTG分子生物學分析(三核酸重複序列擴增),結果發現超過1000個CTG重複序列,此發現與臨床常見的CDM1的特點吻合;我們對此患兒的家族進行了基因分析,發現此擴增的CTG重複序列在其母系間代際遺傳,而且發病時間及疾病嚴重程度一代比一代更早、更嚴重。

Keyword : Congenital myotonic dystrophy

關鍵詞:先天性強直性肌營養不良

 
 

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