Publication: Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: Unusual clinical presentation and review of the literature
Issued Date
2015-07-01
Resource Type
ISSN
17461596
Other identifier(s)
2-s2.0-84928010406
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Diagnostic Pathology. Vol.10, No.1 (2015)
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, No.1 (2015). doi:10.1186/s13000-015-0270-8 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/36385
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: Unusual clinical presentation and review of the literature
Other Contributor(s)
Abstract
© 2015 Waisayarat et al.; licensee BioMed Central. 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. Virtual Slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/9710506431489501.