title: Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review.
abstract: 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.
authors.affiliation: Rehabilitation Department, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310051, P.R. China.
authors.forename: Haifeng
authors.initials: H
authors.lastname: Li
authors.affiliation: Nutrition and Food Safety Department, Zhejiang Provincial Center for Disease Control and Prevention, Hangzhou, Zhejiang 310051, P.R. China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Zou
authors.affiliation: Pediatric Department, Peking University First Hospital, Beijing 100034, P.R. China.
authors.forename: Xinhua
authors.initials: X
authors.lastname: Bao
authors.affiliation: Rehabilitation Department, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310051, P.R. China.
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.affiliation: Rehabilitation Department, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310051, P.R. China.
authors.forename: Jiangping
authors.initials: J
authors.lastname: Wang
authors.affiliation: Rehabilitation Department, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310051, P.R. China.
authors.forename: Huiying
authors.initials: H
authors.lastname: Jin
authors.affiliation: Rehabilitation Department, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310051, P.R. China.
authors.forename: Yuping
authors.initials: Y
authors.lastname: Che
authors.affiliation: Clinical Laboratory of Zhongke, Beijing 100034, P.R. China.
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Tang
keywords: infantile neuroaxonal dystrophy; magnetic resonance imaging; phospholipase A2 group VI