Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing

LU Yao, LIU Chun-Hua, WANG Yang

Chinese Journal of Contemporary Pediatrics ›› 2019, Vol. 21 ›› Issue (9) : 851-855.

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Chinese Journal of Contemporary Pediatrics ›› 2019, Vol. 21 ›› Issue (9) : 851-855. DOI: 10.7499/j.issn.1008-8830.2019.09.002
CLINICAL RESEARCH

Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing

  • LU Yao, LIU Chun-Hua, WANG Yang
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Abstract

Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease. Two boys aged 3 years and 4 years and 2 months respectively, were admitted to the hospital due to delayed mental and motor development. There were no abnormalities at birth, and both children had low muscle strength and tension on admission. One child was not able to stand alone and had impaired vision. Electromyography showed neurogenic damage, and head MRI revealed cerebellar atrophy. High-throughput sequencing revealed compound heterozygous mutations in the PLA2G6 gene in the two children. The mutations (IVS11-1G > T and c.1984C > G) in one child were new mutations, and immunohistochemistry showed a reduction in the protein expression of PLAG6 in the muscular tissue of this child. INAD has the main clinical manifestations of psychomotor developmental regression and cerebellar atrophy. High-throughput sequencing can help with clinical diagnosis.

Key words

Infantile neuroaxonal dystrophy / Clinical feature / PLA2G6 gene / Mutation / Child

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LU Yao, LIU Chun-Hua, WANG Yang. Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing[J]. Chinese Journal of Contemporary Pediatrics. 2019, 21(9): 851-855 https://doi.org/10.7499/j.issn.1008-8830.2019.09.002

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