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Title: Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature
Authors: Jariya Waisayarat
Chinnawut Suriyonplengsaeng
Chaiyos Khongkhatithum
Mana Rochanawutanon
Mahidol University. Faculty of Medicine Ramathibodi Hospital. Department of Pathology
Keywords: Open Access article;Severe congenital nemaline myopathy;Congenital myopathy;ACTA1;Chylothorax;Primary pulmonary lymphangiectasia
Issue Date: 2015
Citation: Diagnostic Pathology. Vol. 10, (2015), 27
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.
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