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Case report: Filamin A mutation lung disease recognized in an 11-year-old child
Tahira West1, Nikita Williamson1, Javeed Akhter1
1Advocate Children's Hospital, Oak Lawn, Illinois, USA.
Insights
Filamin A (FLNA) gene mutations can cause chronic lung disease, typically diagnosed in early childhood. This case highlights a rare late diagnosis at 11 years old, expanding understanding of FLNA-associated lung disease.
Area of Science:
- Genetics
- Pulmonology
- Pediatric Medicine
Background:
- Filamin A (FLNA) gene mutations can lead to loss of function (LOF), causing protein abnormalities and associated clinical syndromes.
- FLNA-associated lung disease often presents in infancy or toddlerhood, mimicking bronchopulmonary dysplasia and falling under childhood interstitial lung disease.
- Early diagnosis is frequently missed due to the disorder's rarity and atypical, mild presentation.
Observation:
- A patient presented at 11 years old with pneumonia, exhibiting unusual chest X-ray findings, asthenia, and early clubbing.
- Despite early symptoms, diagnosis was delayed due to rarity, mild presentation, and discontinuous medical care.
- An extensive workup, including imaging and lung biopsy, was initiated due to the atypical presentation.
Findings:
- The patient was diagnosed with FLNA-associated lung disease.
- Genetic testing confirmed a loss of function (LOF) mutation in the Filamin A (FLNA) gene.
- This case offers unique insights into the long-term progression of FLNA-related lung disease.
Implications:
- This case broadens the understanding of the clinical spectrum and presentation of FLNA-associated lung disease.
- It emphasizes the importance of considering rare genetic disorders even with atypical or delayed presentations.
- The findings underscore the need for comprehensive evaluation in complex pediatric lung cases.
Abstract:
The loss of function (LOF) due to mutations in the Filamin A (FLNA) gene may result in abnormality of the FLNA protein. Of the many clinical syndromes, this condition may produce chronic lung disease, which usually presents and is diagnosed in the infant/toddler age group. Its clinical pattern may mimic broncho-pulmonary dysplasia. It is part of the entities included in childhood interstitial lung disease group of disorders. We are herein reporting a patient that was diagnosed with FLNA-associated lung disease at 11 years of age. This case provides a unique insight into the long-term course of lung disease in this illness and broadens our understanding of the spectrum of its presentation. Although the patient had symptoms early in life, the diagnosis was not entertained because of the rarity of the disorder, its atypical and clinically mild presentation, and discontinuous care due to parents moving to different cities for employment reasons. Her presentation to our institution was for pneumonia. Due to highly unusual chest X-ray images, asthenia, and early clubbing, an extensive workup included further imaging and a lung biopsy. The final diagnosis was confirmed by the detection of FLNA LOF gene mutation.
