Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review

Li,Haifeng; Zou,Yan; Bao,Xinhua; Wang,Hui; Wang,Jiangping; Jin,Huiying; Che,Yuping; Tang,Xiaoyan

doi:10.3892/etm.2016.3761

Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review

Authors:
- Haifeng Li
- Yan Zou
- Xinhua Bao
- Hui Wang
- Jiangping Wang
- Huiying Jin
- Yuping Che
- Xiaoyan Tang
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Affiliations: Rehabilitation Department, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310051, P.R. China, Nutrition and Food Safety Department, Zhejiang Provincial Center for Disease Control and Prevention, Hangzhou, Zhejiang 310051, P.R. China, Pediatric Department, Peking University First Hospital, Beijing 100034, P.R. China, Clinical Laboratory of Zhongke, Beijing 100034, P.R. China
Published online on: September 30, 2016 https://doi.org/10.3892/etm.2016.3761
Pages: 3387-3389

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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.

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