Allergy Asthma Respir Dis.  2019 Jul;7(3):158-164. 10.4168/aard.2019.7.3.158.

A case of FLNA gene mutation with respiratory insufficiency and periventricular heterotopia

Affiliations
  • 1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. kmaped@skku.edu
  • 2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • 3Environmental Health Center for Atopic Diseases, Samsung Medical Center, Seoul, Korea.

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.

Keyword

Filamin A; Respiratory insufficiency; Periventricular heterotopia; Korea

MeSH Terms

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

Figure

  • Fig. 1. Chest X-ray of the patient. Anteroposterior view shows atelectasis of both upper lung fields.

  • Fig. 2. Chest computed tomography (CT) of the patient. Axial view of upper (A), middle (B), lower (C) zones, and coronal view (D) show hyperinflation in both upper lobes and right middle lobe. Multifocal subsegmental atelectasis is also present in both lower lobes. Narrowing of the both bronchi (arrow heads) suggests bronchomalacia.

  • Fig. 3. Brain magnetic resonance image scan of the patient. T1 (A) and T2 (B) axial planes show bilateral periventricular nodular heterotopia.

  • Fig. 4. Electropherogram of FLNA gene sequences of the patient and her parents. The patient and her mother are found to have heterozygous mutation of FLNA gene (c.5998+1G>A).


Reference

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