A case of FLNA gene mutation with respiratory insufficiency and periventricular heterotopia
10.4168/aard.2019.7.3.158
- Author:
Hwanhee PARK
1
;
Min Seung PARK
;
Chang Seok KI
;
Joongbum CHO
;
Jeehun LEE
;
Jihyun KIM
;
Kangmo AHN
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. kmaped@skku.edu
- Publication Type:Case Report
- Keywords:
Filamin A;
Respiratory insufficiency;
Periventricular heterotopia;
Korea
- MeSH:
Actin Cytoskeleton;
Arm;
Ataxia;
Cytoplasm;
Cytoskeleton;
Female;
Filamins;
Hemorrhage;
Humans;
Hypertension, Pulmonary;
Infant;
Korea;
Laryngomalacia;
Lung Diseases;
Periventricular Nodular Heterotopia;
Pneumothorax;
Respiration;
Respiration, Artificial;
Respiratory Insufficiency;
X Chromosome
- From:Allergy, Asthma & Respiratory Disease
2019;7(3):158-164
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
