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Lung disease associated with filamin A gene mutation: a case report.

Eltahir S, Ahmad KS, Al-Balawi MM, Bukhamsien H, Al-Mobaireek K, Alotaibi W, Al-Shamrani A - J Med Case Rep (2016)

Bottom Line: Mutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy.Here, we describe a 1-year-old Saudi female child with respiratory distress at birth.The child then had recurrent lower respiratory tract infections, bilateral lung emphysema with basal atelectasis, bronchospasm, pulmonary artery hypertension, and oxygen and mechanical ventilation dependency.

View Article: PubMed Central - PubMed

Affiliation: King Fahad Medical City, P.O. Box 59046, Riyadh, 11525, Kingdom of Saudi Arabia.

ABSTRACT

Background: Mutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy. FLNA mutations were recently found to be associated with lung disease. In this study, we report a novel FLNA gene associated with significant lung disease and unique angiogenesis.

Case presentation: Here, we describe a 1-year-old Saudi female child with respiratory distress at birth. The child then had recurrent lower respiratory tract infections, bilateral lung emphysema with basal atelectasis, bronchospasm, pulmonary artery hypertension, and oxygen and mechanical ventilation dependency. Molecular testing showed a new pathogenic variant of one copy of c.3153dupC in exon 21 in the FLNA gene.

Conclusions: Our data support previous reports in the literature that associate FLNA gene mutation and lung disease.

No MeSH data available.


Related in: MedlinePlus

Normal alveolar septation
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Fig6: Normal alveolar septation

Mentions: The first admission was due to rhinovirus infection and clinically diagnosed recurrent aspiration secondary to aberrant right subclavian artery (dysphagia lusoria) with prolonged oxygen therapy. The second admission was for respiratory failure that required prolonged intubation including high-frequency oscillatory ventilation complicated by recurrent lung atelectasis and right lung pneumothorax. She failed multiple trials of extubation and unfortunately died of cardiac arrest due to sepsis while receiving maximal supportive therapy. An initial physical examination during the first admission revealed a baby girl in poor health with the following clinical values: moderate respiratory distress and a respiratory rate of 70/min, heart rate of 144/min, blood pressure of 101/47 with saturation of 95% on 1.5 L/min, body weight of 5.9 kg (below the third percentile), and height of 69 cm (at the tenth percentile).The child had diminished breath sounds bilaterally with a prolonged expiratory phase, wheezing, and scattered crackles posteriorly, mild hypotonia, and significant hyperlaxity. Investigations showed normal sweat chloride level, and immune function testing was normal. A chest X-ray (Fig. 1) showed multiple subsegmental atelectasis and areas of air trapping. Computed tomography and angiography of her chest (Fig. 2) revealed bilateral lower lobe airspace disease, hyperinflation of the right middle lobe and left upper lobe including the lingual, and an enlarged main pulmonary artery. The sagittal view (Fig. 3) showed a right aberrant subclavian artery causing posterior compression to the esophagus at the level of the T4 vertebra and minimal compression in the posterior trachea. An echocardiogram showed no residual PDA or significant evidence of pulmonary hypertension. Barium administration (Fig. 4) showed external compression along the posterior wall of the proximal third of the esophagus, which was causing significant narrowing of the esophageal lumen. The pH probe showed no significant GERD. Upper gastrointestinal endoscopy showed there was a narrowed and compressed area located 18 cm into the esophagus at T4, and was identified with marked pulsation. The flexible bronchoscopy showed complete ring and narrowing of the lower third of the trachea. A lung biopsy (Fig. 5) showed alveolated lung parenchyma with alveolar simplification, in which alveoli do not show age-appropriate normal architecture, compared with the normal alveolar architecture (Fig. 6). There was no magnetic resonance imaging (MRI) of the brain because our patient's condition did not allow it.Fig. 1


Lung disease associated with filamin A gene mutation: a case report.

Eltahir S, Ahmad KS, Al-Balawi MM, Bukhamsien H, Al-Mobaireek K, Alotaibi W, Al-Shamrani A - J Med Case Rep (2016)

Normal alveolar septation
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4836084&req=5

Fig6: Normal alveolar septation
Mentions: The first admission was due to rhinovirus infection and clinically diagnosed recurrent aspiration secondary to aberrant right subclavian artery (dysphagia lusoria) with prolonged oxygen therapy. The second admission was for respiratory failure that required prolonged intubation including high-frequency oscillatory ventilation complicated by recurrent lung atelectasis and right lung pneumothorax. She failed multiple trials of extubation and unfortunately died of cardiac arrest due to sepsis while receiving maximal supportive therapy. An initial physical examination during the first admission revealed a baby girl in poor health with the following clinical values: moderate respiratory distress and a respiratory rate of 70/min, heart rate of 144/min, blood pressure of 101/47 with saturation of 95% on 1.5 L/min, body weight of 5.9 kg (below the third percentile), and height of 69 cm (at the tenth percentile).The child had diminished breath sounds bilaterally with a prolonged expiratory phase, wheezing, and scattered crackles posteriorly, mild hypotonia, and significant hyperlaxity. Investigations showed normal sweat chloride level, and immune function testing was normal. A chest X-ray (Fig. 1) showed multiple subsegmental atelectasis and areas of air trapping. Computed tomography and angiography of her chest (Fig. 2) revealed bilateral lower lobe airspace disease, hyperinflation of the right middle lobe and left upper lobe including the lingual, and an enlarged main pulmonary artery. The sagittal view (Fig. 3) showed a right aberrant subclavian artery causing posterior compression to the esophagus at the level of the T4 vertebra and minimal compression in the posterior trachea. An echocardiogram showed no residual PDA or significant evidence of pulmonary hypertension. Barium administration (Fig. 4) showed external compression along the posterior wall of the proximal third of the esophagus, which was causing significant narrowing of the esophageal lumen. The pH probe showed no significant GERD. Upper gastrointestinal endoscopy showed there was a narrowed and compressed area located 18 cm into the esophagus at T4, and was identified with marked pulsation. The flexible bronchoscopy showed complete ring and narrowing of the lower third of the trachea. A lung biopsy (Fig. 5) showed alveolated lung parenchyma with alveolar simplification, in which alveoli do not show age-appropriate normal architecture, compared with the normal alveolar architecture (Fig. 6). There was no magnetic resonance imaging (MRI) of the brain because our patient's condition did not allow it.Fig. 1

Bottom Line: Mutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy.Here, we describe a 1-year-old Saudi female child with respiratory distress at birth.The child then had recurrent lower respiratory tract infections, bilateral lung emphysema with basal atelectasis, bronchospasm, pulmonary artery hypertension, and oxygen and mechanical ventilation dependency.

View Article: PubMed Central - PubMed

Affiliation: King Fahad Medical City, P.O. Box 59046, Riyadh, 11525, Kingdom of Saudi Arabia.

ABSTRACT

Background: Mutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy. FLNA mutations were recently found to be associated with lung disease. In this study, we report a novel FLNA gene associated with significant lung disease and unique angiogenesis.

Case presentation: Here, we describe a 1-year-old Saudi female child with respiratory distress at birth. The child then had recurrent lower respiratory tract infections, bilateral lung emphysema with basal atelectasis, bronchospasm, pulmonary artery hypertension, and oxygen and mechanical ventilation dependency. Molecular testing showed a new pathogenic variant of one copy of c.3153dupC in exon 21 in the FLNA gene.

Conclusions: Our data support previous reports in the literature that associate FLNA gene mutation and lung disease.

No MeSH data available.


Related in: MedlinePlus