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Review
. 2019 Mar 29;19(1):86.
doi: 10.1186/s12887-019-1460-4.

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

Gloria Pelizzo  1 , Mirella Collura  2 , Aurora Puglisi  3 , Maria Pia Pappalardo  4 , Emanuele Agolini  5 , Antonio Novelli  5 , Maria Piccione  6 , Caterina Cacace  7 , Rossana Bussani  8 , Giovanni Corsello  9 , Valeria Calcaterra  10
Affiliations
Review

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

Gloria Pelizzo et al. BMC Pediatr. .

Abstract

Background: Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases.

Case presentation: We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who developed progressive lung disease with emphysematous lesions and interstitial involvement. Following lobar resection, chronic respiratory failure ensued necessitating continuous mechanical ventilation and tracheostomy. Cerebral periventricular nodular heterotopia was also present.

Conclusions: We report a novel variant of the FLNA gene, associated with a severe lung disorder and PNVH. The lung disorder led to respiratory failure during infancy and these pulmonary complications may be the first sign of this disorder. Early recognition with thoracic imaging is important to guide genetic testing, neuroimaging and to define optimal timing of potential therapies, such as lung transplant in progressive lung disease.

Keywords: Children; Congenital enphysema; Filamin a; Lung disease; Periventricular nodular heterotopia.

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Conflict of interest statement

Ethical approval and consent to participate

The study was performed according to the Declaration of Helsinki. Written informed consent was obtained from the patient’s parents for publication of this case report and accompanying images.

Consent for publication

Written informed consent was obtained from the patient’s parents for publication of this case report and accompanying images.

Competing interests

The authors have no competing interests to declare.

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Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Chest X-ray at admission shows left pulmonary areas of hyperinflation (see arrows)
Fig. 2
Fig. 2
CT thorax at admission (Panels a, b) and two months later (Panels c, d). The arrows indicate the hyperinflation area. Panels a, c: axial position; Panel b, d: sagittal position
Fig. 3
Fig. 3
Histological features. In Panel a, areas in blue and the arrows indicate the perivascular and interstitial fibrosis and intra-alveolar hemorrhages (Azan-Mallory coloration, magnification 10x). In Panel b, areas in brown (Tenascin, magnification 10x) indicate where Tenascin was overexpressed, highlighting the extensive parenchymal fibrosis. TNC localization in the normal lung was un-detectable; TNC is specifically and transiently expressed upon tissue injury and down-regulated when tissue repair or scarring is concluded [38]
Fig. 4
Fig. 4
Brain MRI. Appearance of nodules (indicated by arrows) in periventricular grey matter heterotopia (images b, e, d), surrounding the left temporal horn and merging with the hippocampal cortex (image c). Supratentorial signal alterations with T2 and FLAIR hyperintense (images a, indicated by triangles) as in demyelinating lesions
See this image and copyright information in PMC

References

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