PMID- 27882168
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 1792-0981 (Print)
IS  - 1792-1015 (Electronic)
IS  - 1792-0981 (Linking)
VI  - 12
IP  - 5
DP  - 2016 Nov
TI  - Monozygotic twins with infantile neuroaxonal dystrophy: A case report and 
      literature review.
PG  - 3387-3389
AB  - Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease with 
      early onset. PLA2G6 gene mutations have been identified in the majority 
      individuals with INAD. In future, molecular diagnosis of INAD will replace the 
      invasive biopsies used previously. In the present report, monozygotic male twins 
      with INAD were referred The Children's Hospital (Zhejiang University School of 
      Medicine, Zhejiang, China) at fifteen months old for delayed development. The 
      older brother was found to have developmental stagnation when he was 6 months 
      old. The patient could not stand securely without support, and had poor eye 
      tracking and listening ability. Magnetic resonance imaging (MRI) of the patient's 
      brain revealed cerebellar atrophy and electromyography identified signs of 
      peripheral neuropathy. The younger brother displayed similar clinical features 
      and findings. Two different phospholipase A2 group VI (PLA2G6; 22q13.1) gene 
      mutations were detected in the twins by DNA sequencing. The results of the 
      present study indicate that neurogenetic disease should be considered when child 
      patients present with idiopathic developmental stagnation, particularly when 
      similar cases have appeared in the same family. In addition, INAD should be 
      considered as a possible diagnosis when the patient has developmental delay of 
      the central and peripheral nerves. In the future, molecular genetic testing will 
      be the primary method of INAD diagnosis, enabling better prevention of this 
      genetic disease.
FAU - Li, Haifeng
AU  - Li H
AD  - Rehabilitation Department, The Children's Hospital, Zhejiang University School of 
      Medicine, Hangzhou, Zhejiang 310051, P.R. China.
FAU - Zou, Yan
AU  - Zou Y
AD  - Nutrition and Food Safety Department, Zhejiang Provincial Center for Disease 
      Control and Prevention, Hangzhou, Zhejiang 310051, P.R. China.
FAU - Bao, Xinhua
AU  - Bao X
AD  - Pediatric Department, Peking University First Hospital, Beijing 100034, P.R. 
      China.
FAU - Wang, Hui
AU  - Wang H
AD  - Rehabilitation Department, The Children's Hospital, Zhejiang University School of 
      Medicine, Hangzhou, Zhejiang 310051, P.R. China.
FAU - Wang, Jiangping
AU  - Wang J
AD  - Rehabilitation Department, The Children's Hospital, Zhejiang University School of 
      Medicine, Hangzhou, Zhejiang 310051, P.R. China.
FAU - Jin, Huiying
AU  - Jin H
AD  - Rehabilitation Department, The Children's Hospital, Zhejiang University School of 
      Medicine, Hangzhou, Zhejiang 310051, P.R. China.
FAU - Che, Yuping
AU  - Che Y
AD  - Rehabilitation Department, The Children's Hospital, Zhejiang University School of 
      Medicine, Hangzhou, Zhejiang 310051, P.R. China.
FAU - Tang, Xiaoyan
AU  - Tang X
AD  - Clinical Laboratory of Zhongke, Beijing 100034, P.R. China.
LA  - eng
PT  - Journal Article
DEP - 20160930
PL  - Greece
TA  - Exp Ther Med
JT  - Experimental and therapeutic medicine
JID - 101531947
PMC - PMC5103811
OTO - NOTNLM
OT  - infantile neuroaxonal dystrophy
OT  - magnetic resonance imaging
OT  - phospholipase A2 group VI
EDAT- 2016/11/25 06:00
MHDA- 2016/11/25 06:01
PMCR- 2016/09/30
CRDT- 2016/11/25 06:00
PHST- 2015/08/26 00:00 [received]
PHST- 2016/08/11 00:00 [accepted]
PHST- 2016/11/25 06:00 [entrez]
PHST- 2016/11/25 06:00 [pubmed]
PHST- 2016/11/25 06:01 [medline]
PHST- 2016/09/30 00:00 [pmc-release]
AID - ETM-0-0-3761 [pii]
AID - 10.3892/etm.2016.3761 [doi]
PST - ppublish
SO  - Exp Ther Med. 2016 Nov;12(5):3387-3389. doi: 10.3892/etm.2016.3761. Epub 2016 Sep 
      30.