Abstract Ref Number = APCP1132
Poster Presentation
A Case of Congenital Muscular Dystrophy in A 2 Years Old Girl
CyntheaPrima Destariani,Johannes Harlan Saing,Yazid Dimyati,Fereza Amelia Department of Child Health University of Sumatera Utara
Background : The Congenital Muscular Dystrophy (CMD) are a diverse group of genetically based disorders characterized by early onset of progressive hypotonia and weakness. Signs and symptoms are typically evident in the neonatal period, but may present within the first year of life, before ambulation is achieved. Case Presentation Summary : A 2 years old girl came to Adam Malik Hospital on February 16th 2018 with the main complain of bilateral leg weakness was realized by her mother at 3 months old but it weaker in a week. History of fever was found 2 weeks before. She had a developmental delayed. From the familial pedigree showed that her brother had the same complain. From physical examination, there was no trauma found at spine, we found gross motor deficit, hypotonia and normal physiological reflexes. A laboratory test showed that creatine kinase level was elevated. From electromyelogram (EMG), we found miopathy lessions. From brain magneting resonance imaging (MRI) showed abnormal T2 hyperintensity giving an impression of leucodystrophy. Muscle biopsy not perfomed in this case because of the limitation. We treated the patient as suportive therapy. From cardiac and ophtalmology screening were normal. Learning Points/Discussion : We diagnosed this patient with CMD based on clinical, laboratory, EMG and MRI. Even management of these patients is supportive, we must to do muscle biopsy and genetic testing to diagnosed CMD.
Keywords: congenital muscular dystrophy children congenital
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