Pulmonary lymphangiectasia in myotubular myopathy: a novel unrecognized association?
Neuromuscul Disord
; 32(6): 512-515, 2022 06.
Article
em En
| MEDLINE
| ID: mdl-35584999
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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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Quilotórax
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Miopatias Congênitas Estruturais
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Hipertensão Pulmonar
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Female
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Humans
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Newborn
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Pregnancy
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article