Publication: Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature
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Issued Date
2015
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eng
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Mahidol University
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BioMed Central
Bibliographic Citation
Diagnostic Pathology. Vol. 10, (2015), 27
Suggested Citation
Jariya Waisayarat, Chinnawut Suriyonplengsaeng, Chaiyos Khongkhatithum, Mana Rochanawutanon Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. Diagnostic Pathology. Vol. 10, (2015), 27. doi:10.1186/s13000-015-0270-8 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/2708
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Title
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature
Abstract
Introduction: Nemaline myopathy is a rare genetic muscle disorder defined by the presence of nemaline rods in
the muscle fibre sarcoplasm. Congenital nemaline myopathy is the most serious form of the disease’s spectrum.
Case presentation: The affected newborn has no spontaneous movement, fractures at birth and respiratory insufficiency.
The present case was a Thai male, floppy at birth with fractures of both humeri and femurs and ventilator-dependent
respiration. The patient developed bilateral chylothorax two weeks later and died at the age of 6 weeks. Whole-body
postmortem examination with informed consent and genetic analysis of ACTA1 mutation were performed. A skeletal
muscle biopsy examined by light and transmission electron microscopy showed the features of nemaline myopathy.
ACTA 1 heterozygous missense mutation (c.1127G > C) was identified. Histological examination of both lungs revealed
primary pulmonary lymphangiectasia.
Conclusion: To the best of our knowledge, congenital nemaline myopathy with primary pulmonary lymphangiectasia
causing bilateral chylothrax has never been previously reported. Considering chylothorax as a poor prognostic index and
an unusual clinical presentation of severe congenital NM are proposed.