Jariya WaisayaratChinnawut SuriyonplengsaengChaiyos KhongkhatithumMana RochanawutanonMahidol University. Faculty of Medicine Ramathibodi Hospital. Department of Pathology2017-08-082017-08-082017-08-082015Diagnostic Pathology. Vol. 10, (2015), 27https://repository.li.mahidol.ac.th/handle/123456789/2708Introduction: 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.engMahidol UniversityOpen Access articleSevere congenital nemaline myopathyCongenital myopathyACTA1ChylothoraxPrimary pulmonary lymphangiectasiaResearch ArticleBioMed Central10.1186/s13000-015-0270-8