Article
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.
Diagnostic pathology - 16 Apr 2015
Waisayarat Jariya, Suriyonplengsaeng Chinnawut, Khongkhatithum Chaiyos, Rochanawutanon Mana
Abstract excerpt
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...
Topics
- Actins
- Autopsy
- Biopsy
- Chylothorax
- DNA Mutational Analysis
- Fatal Outcome
- Genetic Predisposition to Disease
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Lung Diseases
- Lymphangiectasis
- Male
- Mutation, Missense