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KMID : 1035620190070030158
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Allergy Asthma & Respiratory Disease
2019 Volume.7 No. 3 p.158 ~ p.164
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A case of FLNA gene mutation with respiratory insufficiency and periventricular heterotopia
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Park Hwan-Hee
Park Min-Seung
Ki Chang-Seok
Cho Joong-Bum
Lee Jee-Hun
Kim Ji-Hyun
Ahn Kang-Mo
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Abstract
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Filamin A is an actin-binding protein and, in humans, is encoded by FLNA gene in the long arm of X chromosome. Filamin A plays a role in the formation of cytoskeleton by crosslinking actin filaments in cytoplasm. FLNA mutations affect cytoskeletal regulatory processes and cellular migrating abnormalities that result in periventricular heterotopia. A 5-month-old girl was hospitalized because of breathing difficulty and was diagnosed as having periventricular heterotopia with laryngomalacia, cricopharyngeal incoordination, pulmonary hypertension, and chronic lung disease. A genetic test was performed to find the cause of periventricular heterotopia, and FLNA gene mutation (c.5998+1G>A) was confirmed for the first time in Korea. After discharge, she developed respiratory failure due to a viral infection at 8 months of her age. In spite of management with mechanical ventilation, she died of pneumothorax and pulmonary hemorrhage. Herein, we report a case of FLNA gene mutation who presented with periventricular nodular heterotopia with respiratory insufficiency.
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KEYWORD
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Filamin A, Respiratory insufficiency, Periventricular heterotopia, Korea
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