A boy presented with cough, breathlessness for 1 month, fever for 1 week with similar previous episodes without hospitalisation. He had generalised muscle wasting, acute chronic malnutrition and required immediate ventilation. Provisional diagnosis of recurrent pneumonia with failure to thrive was made. As serial chest X-rays showed recurrent lung collapse, congenital lung anomalies were ruled out. 2D-echocardiography showed pulmonary arterial hypertension. Workup for congenital immunodeficiency and cystic fibrosis was negative. There was no improvement in muscle mass despite total parenteral nutrition. He was noticed to have myopathic facies. History was reviewed when the mother reported reduced fetal movements in this pregnancy. The patient had low voice amplitude. Creatine kinase levels were normal. Muscle biopsy followed by whole exome sequencing identified frameshift duplication NM_020451.3(SELENON):c.249_250dupGG (p.Asp84Glyfs*17), thus, confirming diagnosis of SEPN1-related congenital myopathy (CM) with fibre-type disproportion. Respiratory system involvement was distracter, emphasising consideration of CM while evaluating persistent lung collapse with muscle wasting.
- Paediatrics (drugs and medicines)
- Neuromuscular disease
- Failure to thrive
- Pulmonary hypertension
- Pneumonia (infectious disease)
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Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: AV, DS, ST, MK. The following authors gave final approval of the manuscript: AV, DS, ST, MK.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.