AI Article Synopsis
- Chylothorax, a condition involving fluid accumulation in the chest, has been rarely associated with X-linked myotubular myopathy, a genetic muscle disease, but the exact connection is unclear.
- A neonate diagnosed prenatally with hydrops and chylothorax unfortunately died at 17 days old from respiratory failure linked to severe pulmonary hypertension.
- Genetic testing revealed a new mutation in the MTM1 gene, confirming the diagnosis of X-linked myotubular myopathy, while lung examination showed that primary pulmonary lymphangiectasia caused the chylothorax, marking this as a unique case with notable prenatal and postnatal complications.
Article Abstract
Chylothorax has been reported in rare cases of X-linked myotubular myopathy, but the pathophysiology of this association is not fully understood. We report a case of a neonate presenting prenatally with hydrops and chylothorax. The patient died at 17 days of life due to respiratory failure secondary to severe pulmonary hypertension. Comprehensive genetic testing identified a de novo hemizygous frameshift mutation in the MTM1 gene (c.142-143del, p.Glu48Serfs*12) with subsequent autopsy confirming the diagnosis of X-linked myotubular myopathy. Lung microscopy demonstrated primary pulmonary lymphangiectasia as the cause for the massive chylothorax. To the best of our knowledge, this is the first reported case of molecularly confirmed X-linked myotubular myopathy with pulmonary lymphangiectasia with prenatal findings of hydrops, chylothorax and postnatal severe pulmonary hypertension.
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| http://dx.doi.org/10.1016/j.nmd.2022.04.010 | DOI Listing |
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