title: Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
  The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/9710506431489501 .
authors.affiliation: Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand. jariya.wai@mahidol.ac.th.
authors.forename: Jariya
authors.initials: J
authors.lastname: Waisayarat
authors.affiliation: Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand. chinnawut.sur@mahidol.ac.th.|Department of Anatomy, Faculty of Science, Mahidol University, Bangkok, 10400, Thailand. chinnawut.sur@mahidol.ac.th.
authors.forename: Chinnawut
authors.initials: C
authors.lastname: Suriyonplengsaeng
authors.affiliation: Department of Pedriatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand. chaiyos.kho@mahidol.ac.th.
authors.forename: Chaiyos
authors.initials: C
authors.lastname: Khongkhatithum
authors.affiliation: Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand. manaroch@gmail.com.
authors.forename: Mana
authors.initials: M
authors.lastname: Rochanawutanon
mesh_terms: D000199:Actins / Q000235:genetics; D001344:Autopsy; D001706:Biopsy; D002916:Chylothorax / Q000209:etiology; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008171:Lung Diseases / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D008200:Lymphangiectasis / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D017696:Myopathies, Nemaline / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D020914:Myopathies, Structural, Congenital; D010641:Phenotype; D012720:Severity of Illness Index
chemical_list: D000199:Actins