Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature

Diagnostic Pathology

Mana Rochanawutanon³  Chaiyos Khongkhatithum²  Chinnawut Suriyonplengsaeng¹  Jariya Waisayarat³ 

[1] Department of Anatomy, Faculty of Science, Mahidol University, Bangkok 10400, Thailand;Department of Pedriatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand;Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand

关键词: Primary pulmonary lymphangiectasia;    Chylothorax;    ACTA1;    Congenital myopathy;    Severe congenital nemaline myopathy;   

Others  :  1217782
DOI  :  10.1186/s13000-015-0270-8

 received in 2014-11-07, accepted in 2015-04-07,  发布年份 2015

【 摘 要 】

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 webcite.

【 授权许可】

   
2015 Waisayarat et al.; licensee BioMed Central.

【 图 表 】

Figure 1.

Figure 2.

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